Diagnosis

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1 days ago

Jai Radhakrishnan, MD, Nephrologist and Professor at Columbia University Medical Center, discusses diagnosis and treatment of IgA nephropathy (IgAN).

IgAN is an autoimmune kidney disorder characterized by the settling of IgA protein in the kidneys. In most instances, the cause of this condition is unknown; however, certain disorders have been linked with IgAN, such as cirrhosis of the liver, celiac disease, and HIV infection. Familial IgAN is linked to genetic material on the long arm of chromosome 6.

In the early stages, IgAN has no symptoms making diagnosis difficult. The first sign of this condition may be blood in the urine and the condition can result in end-stage kidney disease. Up to 50% of patients with IgAN with persistent proteinuria progress to kidney failure within 10 to 20 years of diagnosis. Due to the severity of late-stage IgAN, early diagnosis is crucial in effectively treating and managing patients.

Within the last year, the U.S. Food and Drug Administration (FDA) has approved two treatments for this indication; Fabhalta (iptacopan) and Vanrafia (atrasentan). Iptacopan is an oral factor B inhibitor that selectively blocks the alternative pathway of the complement system while Atrasentan is a selective endothelin A receptor antagonist designed to reduce proteinuria.

The introduction of these novel treatments indicates a growing therapeutic landscape and the need for further education of the diagnosis and treatment of IgAN. The heterogeneity of the disease requires personalized treatment plans and effective communication between patients and physicians (i.e., understanding the need for frequent testing and strict following of diet, exercise, and treatment plan).

Dr. Radhakrishnan also emphasizes the importance of participation in clinical trials in the development and approval of new treatments. He notes that the more patients participate, the more knowledge can be learned and effective management options can be developed and implemented, changing the landscape of the disease.

Chapters:
Introduction 00:00
IgAN Overview 1:10
Signs and Symptoms 2:35
IgAN Management 3:20
Advice to Physicians 7:12
Importance of Clinical Trials 8:53

Diagnosis and Treatment of IgA Nephropathy

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1 weeks ago

This program, led by Christiaan Scott, MD, Professor of Pediatric Rheumatology at the University of Ottawa and Raphaella Stander, MBCHB, Pediatrician at Atlantic Children’s Practice, focused on three case studies to provide physicians with education on best practices to: 1) suspect and diagnose FOP, 2) monitor and manage younger children with FOP, and 3) monitor and manage older children and adults with FOP.

This accredited CME program provides healthcare professional with timely and practical education on fibrodysplasia ossificans progressiva (FOP). It is supported by an educational grant from Ipsen Biopharmaceuticals.

To obtain CME credit, visit https://checkrare.com/learning/p-case-studies-in-diagnosing-and-managing-fop/

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in pediatrics, rheumatology, genetics, family medicine, and orthopedics. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to:

• Apply best practices for suspecting and diagnosing FOP.
• List best practices for managing young children with FOP.
• Identify best practices to manage older children and adults with FOP.
Christiaan Scott, Professor of Medicine, University of Ottawa
Raphaella Stander, MBCHB, Pediatrician, Atlantic Children’s Practice

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner
Dr. Scott discloses the following relevant financial relationships with ineligible companies:
Grant/Research Support: Regeneron*, Incyte*, Janssen*, Roche*; Speaker’s Bureau: Ipsen*, Regeneron*, Springer*, Jannsen*
*Relationships have ended

Dr. Stander has no relevant financial relationships with ineligible companies.

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs
Other members of the care team will receive a certificate of participation.

There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.

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For any questions, please contact: CEServices@academycme.org

Copyright
© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

Case Studies in Diagnosing and Managing FOP

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2 weeks ago

Clint Allen, MD, Senior Investigator, and Scott Norberg, DO, Associate Research Physician at Center for Cancer Research at the National Cancer Institute, discuss results from a study testing the safety and efficacy of zopapogene imadenovec to treat patients with recurrent respiratory papillomatosis (RRP).

RRP is a rare viral disease where tumors grow in the respiratory tract. The tumors can cause a hoarse voice, chronic cough, and difficulty breathing. These tumors rarely become cancerous, but can cause long-term airway and voice complications. RRP is caused by two types of human papillomaviruses (HPV), HPV 6 and HPV 11. There are currently no systemic treatments for this condition.

A recent study published in The Lancet Respiratory Medicine aimed to assess the safety and clinical activity of zopapogene imadenovec (PRGN 2012) in adult patients with RRP. Zopapogene imadenovec is a gorilla adenovirus vector-based gene therapy that targets robust T-cell immunity specific to HPV 6 or 11.

The study was a single-center, single-arm, phase 1/2 trial (NCT04724980) enrolling 38 patients who received a 12-week treatment course. The primary outcome measure was complete response rate, defined as the percentage of patients who did not require an intervention to control RRP in 12 months following treatment.

Of the 35 patients treated at the recommended phase 2 dose (5×1011 particle units), 51% demonstrated a complete response with the median duration of complete response yet to be reached. Complete responses were durable in 83% of those who achieved complete response, requiring no interventions in 12 months following treatment with a median follow up of 22 months.

Additionally, five patients had a partial response, defined as a 50% or greater reduction in clinically indicated interventions after treatment compared with before treatment. The objective response rate was 66%. Adverse events were mild and included grades 1-2 injection site reaction, fatigue, chills, and fever.

Based on these positive results, the U.S. Food and Drug Administration (FDA) approved zopapogene imadenovec in August 2025.

Chapters:
Introduction 00:00
RRP Overview 1:29
Pathophysiology and Natural History 2:46
Zopapogene Imadenovec Overview 4:28
Clinical Trial 6:15
Impact on Management 10:13

Zopapogene Imadenovec in Treating Patients With Recurrent Respiratory Papillomatosis

146

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2 weeks ago

Giselle Saulnier Sholler, MD, Division Chief for Pediatric Hematology/Oncology at Penn State University and Founder of the Beat Childhood Cancer Research Consortium, discusses the organization's work in neuroblastoma.

Neuroblastoma is a rare cancer that largely afflicts infants or children. It develops from neuroblasts in the sympathetic nervous system.The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. In most cases, the tumor has metastasized by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms.

The Beat Childhood Cancer Research Consortium is a group of over 50 universities and children’s hospitals that provides a worldwide network of pediatric cancer clinical trials. Their mission is to continue the use of precision medicine and immunotherapy to bring forward new therapies for children with cancer with the goal of finding a cure for all patients.

The consortium consists of physicians, researchers, and parent advocates, who Dr. Sholler emphasizes as the most important contributor to the group’s mission. The group currently treat patients in the United States and Canada but plans are in place to reach the European and South American populations. By expanding their reach, the organization hopes to enroll and finalize clinical trials even quicker.

The consortium has led a few landmark studies over the past 15 years, including the development of difluoromethylornithine (DFMO) for high-risk neuroblastoma. DFMO specifically targets cancer stem cells left behind following treatment to prevent relapse, a main concern in patients with this condition. In a phase 2, single-arm trial, DFMO illustrated the ability to decrease relapse rates by over 50%. That study was instrumental in getting the drug approved by the U.S. Food and Drug Administration (FDA).

Additionally, the Beat Childhood Cancer Research Consortium is working to understand the specific biology of cancer in individual patients through the use of genomic sequencing. This method is being utilized with the goal of finding targeted, less toxic therapies that can be integrated into personalized treatment plans. A study done on this showed the ability to find effective treatment options in 70% of patients who otherwise have no treatment options left.

Currently, the consortium is currently enrolling eight clinical trials and more in the pipeline for next year. The group hopes to continue to move forward in precision medicine through the understanding of individual genomics and looking at using the immune system for specific targeting to reduce the toxicity of current treatment options.

Chapters:
Introduction 00:00
Beat Childhood Cancer Research Consortium 00:43
Importance of Clinical Trials 2:17
Landmark Studies 2:51
Treatment Landscape of Neuroblastoma 5:31
Importance of Collaboration 7:34
Current Clinical Trials 10:15
Future of Beat Childhood Cancer Research Consortium 10:30

Neuroblastoma: Beat Childhood Cancer Research Consortium

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2 weeks ago

Araz Marachelian, MD, Pediatric Oncologist at Children’s Hospital Los Angeles, discusses the New Approaches to Neuroblastoma (NANT) Consortium and its work in neuroblastoma.

Neuroblastoma is a rare cancer that largely afflicts infants or children. It develops from neuroblasts in the sympathetic nervous system.The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. In most cases, the tumor has metastasized by the time it is diagnosed. Neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms.

The NANT consortium is a network of universities and children’s hospitals with research and treatment programs focusing on neuroblastoma. It was established with the goal of providing collaboration opportunities for investigators developing novel therapies for high-risk neuroblastoma. The organization currently has two open, ongoing clinical trials with plans to initiate a few more in early 2026.

NANT has been involved in several landmark studies pioneering the dosing, safety, and feasibility for MIBG therapy. They have also been involved in laboratory trials of lorlatinib precision therapy that has since been led to pediatric patient trials with the Children’s Oncology Group. Dr. Marachelian highlights the impact of these collaborations and their necessity in accelerating access to innovation that provide hope for patients and families.

The neuroblastoma treatment landscape is constantly evolving and researchers are working to improve more targeted immunotherapies that will improve survival outcomes for patients. Dr. Marachelian explains how NANT’s expansion into Europe and other countries are aiding in the faster development of novel therapies and clinical trials.

Chapters:
Introduction 00:00
NANT Consortium 00:57
Landmark Studies 2:26
Treatment Landscape of Neuroblastoma 4:54
Impact of NANT Collaboration 6:28
Current Clinical Trials 11:41
Length of Clinical Trials 12:26
Advice for Newly Diagnosed Families 15:28
Future of NANT 17:07

Neuroblastoma: New Approaches to Neuroblastoma Consortium

161

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2 weeks ago

Navin Pinto, MD, Professor of Pediatrics at the University of Colorado Anschutz Medical Campus and Colorado Children’s Hospital, discusses the Children’s Oncology Group and their work in neuroblastoma.

Neuroblastoma is a rare cancer that largely afflicts infants or children. It develops from neuroblasts in the sympathetic nervous system.The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. In most cases, the tumor has metastasized by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms.

The Children’s Oncology Group (COG) was founded in 2000 and is the world’s largest organization dedicated to pediatric cancer research. As a member of the National Cancer Institute (NCI) National Clinical Trials Network, the group brings together over 12,000 experts across over 250 hospitals, universities, and cancer centers. Their mission is to cure and prevent pediatric cancer through scientific discovery and compassionate care. Today, the COG has over 100 active clinical trials.

Over the years, the COG has led a number of landmark studies. As an example, Dr. Pinto notes that the cure rates for acute lymphoblastic leukemia, the most common malignancy seen by pediatric oncologists, have been raised to over 95%. Within the neuroblastoma landscape, COG studies have led to the intensification and addition of immunotherapies that have improved outcomes. This includes being one of the first pediatric-only indications to be treated with a monoclonal antibody, dinutuximab.

Dr. Pinto also highlights the importance of collaboration in research and development for rare diseases. Through this network, clinical trials are developed quicker and more efficiently, allow access to more patients where populations are often small, and can lead to more standardized methods to treating diseases and advancing therapies.

The COG also works closely with the National Comprehensive Cancer Network (NCCN). Following the completion of trials and data readouts by the COG, that data is passed along to the NCCN, who develops recommendations for standard-of-care practices based on the data provided. This collaboration resulted in a rollout of guidelines for pediatric malignancies, such as neuroblastoma, earlier this year.

Over the past 25 years, the COG has worked to improve outcomes and survival for pediatric patients. Dr. Pinto explains that looking forward, the group hopes to continue this trend with the development of more targeted therapies that have less long-term effects and toxicities.

Chapters:
Introduction 00:00
The Children’s Oncology Group 00:57
Landmark Studies 2:52
Treatment Landscape of Neuroblastoma 5:47
Tandem Versus Monotherapy 7:30
Importance of Collaboration 8:45
Reflecting on the Past 25 Years 10:35
Length of Studies 12:16
Facing Cuts to Funding 15:40
Relationship with National Comprehensive Cancer Network 17:51
Take Home Message 19:35

Neuroblastoma: The Children’s Oncology Group

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3 weeks ago

$Paula Rodriguez Otero, MD, PhD, Hematologist at the University of Navarra, discusses results from the LINKER-SMM1 trial in patients with high-risk smoldering multiple myeloma (HR-SMM). HR-SMM is an asymptomatic clonal plasma cell disorder characterized by a high risk of progression to multiple myeloma. The typical age of diagnosis is 50 to 70 years. Due to its asymptomatic nature, diagnosis usually follows discovery of M protein in laboratory testing. Early intervention may have the potential to delay or prevent progression to active multiple myeloma. Data from the LINKER-SMM1 clinical trial was recently presented at the International Myeloma Society 2025 meeting. The LINKER-SMM1 (NCT05955508) study is a phase 2, open-label trial evaluating the safety and efficacy of linvoseltamab in patients with HR-SMM. Linvoseltamab is a BCMAxCD3 bispecific antibody approved for triple-class exposed relapsed/refractory multiple myeloma after 4 or more prior lines of therapy. Part 1 of the study looked at the safety of linvoseltamab in six patients. Primary endpoints included frequency of adverse events of special interest, and frequency and severity of treatment-emergent adverse events (TEAE). Part 2 of the study is ongoing with 24 patients enrolled as of May 28, 2025. Primary endpoints include complete response rate and MRD negativity at 12 and 24 months. Key secondary endpoints of both parts include overall response rate, MRD negativity rate, and duration of response. In part 1, no safety concerns were identified. 92% of patients experienced 1 or more TEAE and 38% experienced a grade 3 or higher TEAE. Neutropenia was the only grade 3 or higher hematologic toxicity. Infections occurred in 79% of patients and consisted mostly of low-grade respiratory tract infections. However, treatment-related grade 3 infections were reported in 2 patients with Salmonella gastroenteritis and Staphylococcus epidermidis bacteremia, which were quickly resolved with antibiotics. Ig replacement was given to 95% of patients who received 1 or more cycles of therapy. CRS occurred in 42% but no ICANS were observed. Following one or more cycles of linvoseltamab, overall response rate was 100%. Among part 1 patients with longer follow-up, 100% achieved ≥VGPR and 100% achieved MRD negativity at 10-6. All responses were ongoing at data cutoff. Chapters: Introduction 00:00 Treating High-Risk Smoldering Multiple Myeloma 00:13 Signs and Symptoms 2:46 LINKER-SSM1 Clinical Trial 3:39 Natural History of Progression 8:55$

Results From the LINKER-SMM1 Trial in Patients With High-Risk Smoldering Multiple Myeloma

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4 weeks ago

Greg Palko, Vice President and Oncology Franchise Head of Kyowa Kirin North America, discusses a new cutaneous T-cell lymphoma (CTCL) Staging Tool.

CTCL is a rare group of malignancies that attack the body’s immune lymphatic system, affecting both B-cells and T-cells. The underlying cause of CTCL is not fully understood. Genetic causes are suspected but these issues appear to be sporadic mutations for the most common forms of CTCL. The most common subtypes of CTCL are Sézary syndrome and mycosis fungoides.

Common symptoms include widespread red rash that may cover most of the body, the presence of cancerous T cells in the blood, and abnormally enlarged lymph nodes. Other signs and symptoms may include intense itchiness, scaling and peeling of the skin; fever; weight loss; hair loss; ectropion; palmoplantar keratoderma; malformation of the nails; and hepatosplenomegaly.

As Mr. Palko explains, due to the variety of symptoms and many disease types, diagnosis of CTCL can be challenging. Many patients go two to seven years before getting an accurate diagnosis. Similarly, staging the severity of the disease can be fraught with uncertainty. However, properly staging patients can be crucial to developing and choosing accurate treatment plans.

The CTCL Staging Tool on PROBEinCTCL.com is a first-of-its kind tool aimed at guiding physicians on what to consider when staging patients with mycosis fungoides and Sézary syndrome. The tool takes physicians through a combination of questions and clinical case imagery evaluating the extent of disease across the TNMB system looking at skin, lymph nodes, visceral/metastasis, and blood. After completion, the tool shows a staging that best aligns with the individual patient case and additional information and guidance is provided for next steps.

The tool was developed from the National Comprehensive Cancer Network Guidelines and clinical trial design and staging recommendations from the International Society for Cutaneous Lymphoma, the U.S. Cutaneous Lymphoma Consortium, and the European Organisation for Research and Treatment of Cancer. The tool works to translate these complex guidelines into a more simple assessment with the goal of supporting more consistent and informed care.

Chapters:
Introduction 00:00
CTCL Overview 00:27
PROBE Staging Tool 1:36
Physician Use 3:22
Importance of Accurate Staging 4:55

New Staging Tool for Cutaneous T-cell Lymphoma (PROBEinCTCL)

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4 weeks ago

Makayla Alger, patient advocate with TUBB4B, and her mother Joann Alger, discuss their experience with the condition and the need for awareness.

The TUBB4B gene is a gene believed to be involved in microtubule cytoskeleton organization and the mitotic cell cycle.

The condition initially presented in Makayla at the age of two when she first needed glasses. Soon thereafter, her hearing began to worsen. The back-to-back vision and hearing loss led Joann to push for genetic testing, where the TUBB4B mutation was identified.

Now 15 years of age, Makayla requires the use of hearing aids although her hearing has remained fairly stable. However, the vision component of the disease has been progressive, with her loss of night and peripheral vision.

As the family discusses, there are currently no treatments and advocacy groups/organizations for the TUBB4B disease. Joann highlights the frustration about the uncertainty of the disease; not knowing its progression, what symptoms may present, how bad Makayla’s vision might become. The family’s hope is that more awareness can be raised for the disease to stimulate further research and potential treatments.

Chapters:
Introduction 00:00
TUBB4B Overview and Diagnosis 00:10
Living With TUBB4B 2:41
Finding Other Patients 5:17
Advocacy Groups and Raising Awareness 6:38
What People Should Know 8:23

Patient Perspective: TUBB4B and The Need for Awareness

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4 weeks ago

Krista Casazza, PhD, co-author of the recent article “Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment” in the Journal of Inherited and Metabolic Disease, discusses biomarker validation in Niemann-Pick disease type C (NPC1).

NPC1 is caused by genetic changes in the NPC1 gene. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen.

Currently, the most reliable indicator of disease progression in NPC1 is the age at which neurological symptoms appear rather than age at diagnosis, which is often delayed due to phenotypic variability and limited awareness. Treatment options remain scarce, with miglustat approved for off-label use in some regions and 2-hydroxypropyl-β-cyclodextrin currently in clinical trials.

However, growing insights into disease mechanisms have fueled the development of pharmacodynamic, diagnostic, and prognostic biomarkers aimed at supporting earlier diagnosis and tracking therapeutic outcomes. Key areas of focus include cholesterol dysregulation, neuroinflammation, and neuronal loss, with promising biomarker candidates such as 24(S)-hydroxycholesterol, neurofilament light chain, bile acid derivatives, novel lipid species, and oxysterols.

Despite this progress, NPC1 remains a life-limiting disorder with significant diagnostic and therapeutic gaps. Continued translational research and clinical trial efforts will be critical to advancing biomarker validation, regulatory approval, and the development of disease-modifying therapies, moving the field closer to a precision medicine approach.

Chapters:
Introduction 00:00
NPC1 Overview 00:25
Biomarkers of NPC1 2:55

Biomarker Validation in Niemann-Pick Disease Type C

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4 weeks ago

Jamas LaFreniere, Founder of Sophie’s Hope Foundation and CURE GSD1b, and Blair Stone-Schneider, Executive Director of Sophie’s Hope Foundation, discuss their patient advocacy organization and starting a natural history study for glycogen storage disease type 1b (GSD1b).

GSD1b is an inherited condition characterized by the inability to break down glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia, and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1b is caused by changes in the SLC37A4 gene.

There are currently no approved treatments for this condition. Management of the disease includes a strict diet of corn starch every few hours, including overnight, to help regulate blood sugar levels. This places a high burden of disease on caregivers and patients with GSD1b.

Sophie’s Hope Foundation and CURE GSD1b are patient advocacy organizations founded by Jamas and Margot LaFreniere following their daughter Sophie’s diagnosis of GSD1b in 2019 at the age of two. Their mission is to find a cure for GSD1b through funding research and coordinating the collaboration of patients, caregivers, doctors, researchers, and pharmaceutical companies. Additionally, the organization focuses on raising awareness globally among the general population, governments, pharmaceutical industry, and regulatory bodies, as well as supporting patients and caregivers through community building and education.

Currently, a natural history study is underway for patients with GSD1b. The study is important in understanding disease progression and enabling future therapeutic development. Mr. LaFreniere and Ms. Stone-Schneider hope that this study is the first step in partnering with pharmaceutical companies to drive research and development of treatments for patients with GSD1b.

Chapters:
Introduction 00:00
GSD1b Overview 1:31
Diagnostic Journey 2:16
Current Management 3:05
Ongoing Research 5:42
Natural History Study 8:03
Sophie’s Hope Foundation 11:33
What Physicians Should Know 17:45
Importance of Patient Organizations 20:40

Sophie’s Hope Foundation: A GSD1b Patient Advocacy Organization

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4 weeks ago

Treating NF1-PN With Mirdametinib

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1 months ago

Sharon Halperin, Research Director for Lipodystrophy United and patient, discusses her diagnostic journey with lipodystrophy.

Lipodystrophies are rare metabolic disorders characterized by the loss of adipose tissue. This leads to complications such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver. Lipodystrophies generally begin in childhood and have an underlying autoimmunity. The disorder can be genetic or acquired. Symptoms that may indicate a should be evaluated for lipodystrophy include thin arms and legs, prominent muscular veins, cutaneous fat around abdomen, and difficult to treat diabetes. Current management of patients includes cosmetic surgery, diet, and drug therapy for control of diabetes and dyslipidemia. Leptin replacement therapy is the only lipodystrophy-specific treatment.

Ms. Halperin shares her diagnostic journey, starting with signs and symptoms of insulin resistance and lipodystrophy at 6 years old. While searching for a diagnosis, she went to 11 different endocrinologists who all tested her for Cushing’s, each test coming back normal. She was diagnosed with type 2 diabetes at 28 years old which accelerated her path to a lipodystrophy diagnosis. A year and a half ago while searching for an endocrinologist to write up her diagnostic history for disability, a doctor conducted a physical examination and finally gave a diagnosis of lipodystrophy.

Ms. Halperin wants physicians to know that patients are compliant and treatment and trying their best, even when it may not seem like it. She highlights the multisystemic nature of the disease as a challenge to adequately managing the disease. She also wants doctors to understand the high burden of disease on patients and how their symptoms affect their daily life and mental health. While testing for metabolic function and other disease components is important, mental health check ins and asking about how symptoms are making patients feel are essential as well.

Finally, Ms, Halperin advises patients who have been newly diagnosed with lipodystrophy to find community. Networking with patients who have been through similar experiences and can help patients cope with their diagnosis and treatment. Additionally, she stresses the importance of education, noting that the more knowledge one has on the disease, the easier it is to manage.

Chapters:
Introduction 00:00
Diagnostic Journey 00:47
What Physicians Should Know 2:22
Advice for Newly Diagnosed Patients 4:13

Patient Perspective: Lipodystrophy Diagnostic Journey

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1 months ago

Vivian Lin, MD, Executive Medical Director of Medical Affairs at Neurocrine, discusses the CAHtalyst clinical trials in adults with congenital adrenal hyperplasia (CAH).

CAH refers to a group of genetic conditions that affect the adrenal gland production of hormones, particularly, the production of cortisol and androgen hormones. Persons with severe forms of the condition can be dramatically impacted. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems.

The CAHtalyst clinical trials were two phase 3 studies analyzing the changes in glucocorticoid doses with A4 levels in adult and pediatric patients with CAH. Crinecerfont is a first-in-class corticotropin releasing factor type 1 receptor antagonist approved by the U.S. Food and Drug Administration (FDA) as an adjunct to glucocorticoid replacement to control androgens in patients with CAH. Post hoc and one year results were presented on the CAHtalyst adult patients at the 2025 ENDO conference.

At baseline, all patients were taking supraphysiologic glucocorticoids. At week 24, 63% achieved a physiologic glucocorticoid dose (less than or equal to 11 mg/m2/d) while maintaining or improving A4 with crinecerfont, versus 18% in the placebo group. In the post hoc analysis, 50% had A4 levels higher than the upper limit of normal at baseline. At week 24, 82% of patients on crinecerfont achieved a physiologic glucocorticoid dose regardless of A4 level, compared to 37% in the placebo group. Of the crinecerfont patients, 53% had A4 levels less than or equal to the upper limit of normal, compared to 43% in the placebo group. Additionally, 49% of placebo-treated patients had A4 levels greater than the upper limit of normal despite supraphysiologic glucocorticoid dosing, compared to 11% with crinecerfont.

Chapters:
Introduction 00:00
CAH Overview 1:15
Diagnostic Journey 2:24
Current Management 3:14
Burdensome Symptoms 4:08
CAHtalyst Clinical Trials 6:37
Take Home Message 11:11

CAHtalyst Clinical Trials in Adults With Congenital Adrenal Hyperplasia

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1 months ago

Michelle Reyes, Associate Director of the HypoPARAthyroidism Association and patient, discusses the diagnosis and management of hypoparathyroidism.

Hypoparathyroidism is a rare endocrine disorder in which the parathyroid glands do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel.

Diagnosis of hypoparathyroidism can be challenging. About 75% of patients acquire the condition after an injury to the parathyroid glands, typically during surgery for another condition. However, around 25% of patients present with the genetic type, which usually involves a long diagnostic process. This is due to its presentation of seizures and neurological difficulties, where it often gets confused with other conditions.

Prior to this year, hypoparathyroidism was treated with over-the-counter vitamins and minerals such as calcium, vitamin D, and magnesium. The first U.S. Food and Drug Administration (FDA) approved treatment for hypoparathyroidism, palopegteriparatide, was made available in December 2024. Palopegteriparatide is a synthetic analog of PTH, which addresses the underlying pathophysiology of disease.

Ms. Reyes’ advice to newly diagnosed patients is to know that they are their own best advocate. While doctors may not be well educated on the disease upon their diagnosis, what is important is that their doctors are willing to learn with them as they begin their management and treatment journey.

Chapters:
Introduction 00:00
Hypoparathyroidism Overview 00:37
Diagnostic Journey 1:19
Current Management 2:30
Advice for Newly Diagnosed Patients 3:41
What Physicians Should Know 5:17

Diagnosis and Management of Hypoparathyroidism

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1 months ago

Patty Keating, Executive Director of the HypoPARAthyroidism Association and patient, discusses the daily symptom burden of hypoparathyroidism

Hypoparathyroidism is a rare endocrine disorder in which the parathyroid glands do not produce sufficient parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel. It may be caused by injury to the parathyroid glands (e.g., during surgery). The first U.S. Food and Drug Administration (FDA) approved treatment for hypoparathyroidism, palopegteriparatide, was made available in December 2024. There are several additional treatments in the pipeline.

The HypoPARAthyroidism Association is an advocacy group that focuses on research and access to clinical trials, education of patients and clinicians, and supporting patients. The organization provides many resources, but its standout initiative is an annual patient conference. This event gives an opportunity for clinicians and industry to come together and teach patients about the disease and give updates and clinical trials and treatment options. Additionally, it is great for patients to network with each other.

The symptom burden of hypoparathyroidism can greatly impact daily life. Ms. Keating explains how one of the most burdensome symptoms, brain fog, can be severe and cause a patient to be unable to recall words or forget where they are/where they are going. She highlights the importance of doctors understanding that while a patient’s lab values may come back looking normal, asking patients is the best way to understand their symptoms and how they affect daily life. This information can provide insights into how to better manage symptoms and utilizing the proper treatment plans.

Ms. Keating’s advice for newly diagnosed patients is to document daily symptoms and know how to articulate them to doctors so that they can better understand symptom burden and more effectively manage symptoms and treatment.

Chapters:
Introduction 00:00
What Physicians Should Know 1:16
Burdensome Symptoms 1:55
Effectiveness of Current Therapy 2:42
Advice for Newly Diagnosed Patients 3:35
Clinical Trials 4:35
HypoPARAthyroidism Association Resources 5:50
Unmet Needs 7:13

Daily Symptom Burden of Hypoparathyroidism

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1 months ago

Christine Eliazo, Medical Student at Nova Southeastern University, discusses a case report on a patient with congenital adrenal hyperplasia (CAH).

CAH is a genetic condition characterized by an enzyme deficiency in the adrenal glands. This causes underproduction of cortisol and the overproduction of androgens. Symptoms may include ambiguous genitalia at birth, dehydration, poor feeding, diarrhea, vomiting and other health problems. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. CAH is most commonly caused by mutations in the CYP21A2 gene.

A case report recently presented at the ENDO 2025 annual meeting looked at life threatening urinary tract infections (UTIs) in a 16 year old girl with Prader V salt-wasting CAH. Following recurrent hospitalizations for severe dehydration, hyponatremia, and hypotension, the patient was diagnosed with salt-wasting CAH at 4 months old and started on hydrocortisone and fludrocortisone. The patient was assigned male at birth based on male-appearing genitalia, however, following this diagnosis was decided to be female. This was confirmed at 7 months old when the family moved to the U.S. from Honduras for further care and a karyotype was reported as 46, XX and molecular analysis confirmed the diagnosis of CAH.

Legally, the child appears male and has a masculine name but the family has raised her as a girl and has socially changed her name. At 8 years of age, a psychological gender role evaluation was performed due to non-typical gender behavior. The evaluation was inconclusive due to learning difficulties, however, the patient identifies as a girl, matching her gender expression.

Physical examinations have observed a Tanner V phallus with a urethral opening at the tip and bilateral cryptorchidism. The patient experienced her first menstrual cycle at 11 years and has monthly bleeding through the urethra. Urological evaluations and procedures have observed bladder diverticula. The patient has had multiple urinary tract infections, some of which have led to septic shock and admission to the pediatric intensive care unit.

The case report shows the necessity of early diagnosis for CAH in preventing severe medical and social implications. While in the U.S., CAH is included in newborn screening, this is not common in developing countries. Additionally, lack of insurance coverage and surgical costs present challenges in the U.S. as well.

Chapters:
Introduction 00:00
CAH Overview 1:25
Poster Overview 2:49
Diagnosis 7:07

Case Report: Patient With Congenital Adrenal Hyperplasia

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1 months ago

Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses the XLH impact survey and mental health in rare diseases.

My name is Dr. Al Freedman. I'm a practicing clinical psychologist and I specialize in supporting the psychological and emotional needs of patients and families affected by rare disease. I'm also a dad. The reason that I'm focused on rare disease is because of my son, Jack, who was born in 1995 and diagnosed with SMA or Spinal Muscular Atrophy. Jack was given one year to live when he was a baby and thankfully, he didn't fully cooperate with his prognosis. He lived to the age of 26. I learned a lot from my son and I learned a lot every day from other patients and families affected by rare diseases all around the world.

I provide one-on-one counseling services to patients and families. I provide group facilitation service for rare disease advocacy organizations. I provide facilitation for many rare disease support groups around the world. I consult with rare disease advocacy leaders on how to build support programs for their communities and I consult with industry partners on how to support the communities they serve with treatments and treatments that are in development. I'm very busy because there are very few of us at the intersection of mental health and rare disease. I'm happy to share what I know about my work and also specifically about the XLH community.

XLH Impact Survey

Not surprisingly to me, as someone familiar with many rare disease communities. The XLH
community has a significant mental health challenges and the survey the community conducted revealed 83% of adults and 90% of children reported at least one mental health issue. But not surprisingly, a small minority of these patients are seeing a mental health professional. Not surprisingly, anxiety is at the core of many of the concerns.

Those of us in the rare disease community deal with a lot of uncertainty and living with
uncertainty is anxiety-provoking. It came as no surprise to me to see that the most common mental health issue reported was anxiety. Depression was also reported. High rate of depression and also social isolation. Many rare disease patients in this community and others experience social isolation, which is a great challenge and was a challenge during the pandemic and continues to be a challenge for rare disease patients.

Addressing Mental Health in Rare Diseases

It comes as no surprise that attention to mental health would lag behind attention to physical health and medical issues when it comes to rare disease. I'd like to say as a dad that for 26 years, I didn't have time to talk about how I felt about my son's situation. I was busy literally keeping him alive. We have to attend to rare disease. If our physical condition and our medical status to keep stable is a primary need that takes up a lot of time. It takes up a lot of bandwidth. The attention to mental health lags behind.

Secondly, as importantly, access to mental health services is very difficult in the United States. Our mental health system doesn't work very well. It's pretty broken. Access to mental health services for people without rare disease is a challenge. With rare disease, to find person who can help us who has expertise in the unusual situation we're in, is very hard to find. Having insurance cover the cost is hard to find and there are very few mental health practitioners available. Part of this is practical challenge related to time and priorities. Part of this is our health care system just doesn't work very well when it comes to mental health.

XLH Community Impact Survey: Effects on Mental Health

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1 months ago

$Javier Oesterheld, MD, Division Chief of the Cancer and Blood Disorders Program at Levine Children’s Hospital and Founder and Executive Director of the ARISE Cancer Consortium, discusses naxitamab combination therapy for the treatment of patients with relapsed/refractory high-risk neuroblastoma. Neuroblastoma is a rare tumor that develops from neuroblasts, usually in infants or children before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. In most cases, the tumor has metastasized by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms. Naxitamab is a disialoganglioside 2-binding antibody that was approved by the U.S. Food and Drug Administration (FDA) in 2020 for use in combination with granulocyte-macrophage colony-stimulating factor (GM-CSF) for the treatment of patients with relapsed/refractory high-risk neuroblastoma. Naxitamab has short infusion time and can be administered without overnight hospitalization. A recent report aimed to evaluate the use of naxitamab and granulocyte-macrophage colony-stimulating factor in combination with cyclo-phosphamide (CTX) and topotecan (TOPO) in four patients with relapsed/refractory high-risk neuroblastoma. Response to treatment varied across the four patients. Regarding metastatic soft tissue and bone response, patient 1 achieved complete response, patient 2 had partial response, patient 3 had stable disease, and patient 4 had progressive disease. Patients 1 and 3 achieved complete response for bone marrow response and assessment was not feasible for patient 4. Patient 2 initially achieved stable disease for bone marrow response and then received two cycles of naxitamab and GM-CSF in combination with CTX/TOPO, followed by 13 cycles of naxitamab monotherapy. The patient achieved complete response after 2 cycles of monotherapy. The most common treatment-related adverse events were pain, hypotension, and hypertension. The majority of these were grades 1 or 2. All four patients were admitted due to fever and neutropenia, attributed to high-dose CTX/TOPO, resulting in a decrease in dose in three of the four patients. Results from this report illustrated a favorable safety profile with naxitamab combination therapy with no overlapping toxicities. However, definitive clinical effectiveness conclusions could not be drawn, requiring further research into the treatment.$

Naxitamab Combination Therapy for Patients With Neuroblastoma

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2 months ago

Christine Coppini, patient with lipodystrophy, discusses her diagnostic journey and challenges she faces living with a rare disease.

Lipodystrophies are rare metabolic disorders characterized by the loss of adipose tissue. This leads to complications such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver. Lipodystrophies generally begin in childhood and have an underlying autoimmunity. The disorder can be genetic or acquired. Symptoms that may indicate a should be evaluated for lipodystrophy include thin arms and legs, prominent muscular veins, cutaneous fat around abdomen, and difficult to treat diabetes. Current management of patients includes cosmetic surgery, diet, and drug therapy for control of diabetes and dyslipidemia. Leptin replacement therapy is the only lipodystrophy-specific treatment.

Ms. Coppini was diagnosed with lipodystrophy in 2023 after about 15 years of illness that had no proper diagnosis. She started her journey as a teenager when she was diagnosed with polycystic ovary syndrome (PCOS). However, when her symptoms were worsening she was told that she was just diabetic, overweight, and noncompliant with her treatment plan. Later in life, after symptoms continued to persist, she was put on a medical leave of absence from work to figure out what was really going on.

After going to an ENT thinking a possible allergy was behind her symptoms, the physician tested her for Cushing’s. The MRI came back negative for pituitary involvement but with tumors on her adrenal glands. She was then sent to UCLA Medical Center where a doctor finally pieced together her symptoms and diagnosed her with lipodystrophy.

Ms. Coppini describes the most burdensome symptoms that impact her daily life and work as fatigue, nausea, constipation, feet pain and neuropathy, carpal tunnel, and cataracts. She wishes doctors better understood the pain and fatigue symptoms better and how much they impact her life. She stresses the importance of physicians being compassionate and really listening to their patients and being willing to learn.

Current therapies have made a significant impact on Ms. Coppini’s life, noting that once she received her diagnosis and started treatment her mental health improved drastically. She experienced a weight of her shoulders and finally feeling hope after going so long without a proper diagnosis.

Her advice for new patients is to find a community through support groups and patient advocacy organizations. It is through these where a patient can talk about their struggles and worries and get feedback from other patients who have experienced similar situations. She also highlights the importance of looking at the positives in a situation and following doctors instructions to maintain health.

Chapters:

Patient Perspective: Diagnostic Journey and Challenges of Lipodystrophy

78

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Diagnosis

Hemolytic Disease of the Fetus and Newborn: Outcomes of Intrauterine Transfusion and Patient Experiences

New Staging Tool for Cutaneous T-cell Lymphoma (PROBEinCTCL)

Diagnosis and Management of Hypoparathyroidism

Patient Perspective: Lipodystrophy Diagnostic Journey

Case Report: Alemtuzumab-Induced Thyroid Eye Disease

Patient Perspective: Diagnostic Journey and Challenges of Lipodystrophy

Case Report: Patient With Congenital Adrenal Hyperplasia

Survey Finds Wide-Ranging Impact of X-Linked Hypophosphatemia (XLH) on Patient Experiences

Diagnosing and Treating a Patient With Castleman Disease

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