Hematologic Disorders

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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

May Lee Tjoa, PhD, Senior Global Medical Affairs Leader: Nipocalimab and Maternal-Fetal Immunology at Johnson & Johnson, discusses data on hemolytic disease of the fetus and newborn (HDFN) from the 2025 ISUOG World Congress on Ultrasound in Obstetrics and Gynecology.

HDFN is a rare condition characterized by the destruction of fetal red blood cells due to maternal-fetal blood group incompatibility. The condition may occur in persons with Rh or ABO blood types. Rh incompatibility usually affects subsequent pregnancies due to maternal sensitization that occurs in the first pregnancy. This leads to more severe complications such as intrauterine hydrops fetalis in later pregnancies. ABO incompatibility can impact the first pregnancy due to preexisting maternal antibodies. Symptoms of disease in newborns include lethargy, jaundice, hepatosplenomegaly, and signs of hydrops fetalis.

There are currently no approved therapies for the treatment of HDFN. Pregnancies affected by severe HDFN may need repeated intrauterine transfusions (IUTs), and/or invasive surgical procedures that may be associated with increased rate of fetal mortality and premature birth. Below are summaries of three studies presented at the World Congress highlighting the need for improved therapy options for this rare condition.

Chapters:
Introduction 00:00
HDFN Overview 1:34
Outcomes of Intrauterine Transfusion 3:33
Costs Associated With HDFN 4:55
Take Home Message 7:09
FNAIT Patient Experiences 8:52

HDFN: Outcomes of Intrauterine Transfusion and Patient Experiences

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1 weeks ago

Amit Mehta, MD, Medical Oncologist, discusses data that led to the approval of Wayrilz (rilzabrutinib) for adult patients with immune thrombocytopenia (ITP).

ITP is a bleeding disorder characterized by low levels of platelets. It is an autoimmune disorder in which abnormal antibodies attach to the platelet membranes. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.

The U.S. Food and Drug Administration (FDA) recently approved rilzabrutinib for adults with persistent or chronic ITP who have had an insufficient response to previous treatment. The approval was based on data from the LUNA 3 clinical trial (NCT04562766), a phase 3, randomized, multicenter study evaluating the safety and efficacy of rilzabrutinib versus placebo in adult and adolescent patients with persistent or chronic ITP. Results from the adult group of 202 patients were presented at the 66th American Society of Hematology Annual Meeting and Exposition. The adolescent part is ongoing.

Rilzabrutinib is an oral, reversible, Bruton’s tyrosine kinase (BTK) inhibitor that addresses the underlying cause of ITP through multi-immune modulation and targeting various pathways across the immune system.

Patients who achieved platelet count response at 12 weeks were eligible to continue the full 24-week double-blind period. This included 64% of patients in the rilzabrutinib arm and 32% of patients in the placebo arm.

In the rilzabrutinib arm, 23% of patients experienced statistically significant durable platelet response at week 25 compared to 0% in the placebo arm. Rilzabrutinib patients also experienced a faster time to first platelet response of 36 days compared to the platelet response not being reached in the placebo group. The treatment group also showed a longer duration of platelet response of 7 weeks compared to 0.7 weeks in the placebo group.

Patients in the rilzabrutinib arm also reported an overall 10.6-point improvement in nine health-related quality of life measures, compared to a 2.3-point increase in the placebo group.

The most common adverse reactions are diarrhea, nausea, headache, abdominal pain, and COVID-19.

Chapters:
Introduction 00:00
ITP Overview 00:31
Current Management 2:35
Rilzabrutinib Overview 4:37
LUNA 3 Clinical Trial 8:03
Take Home Message 11:21

Rilzabrutinib Approval for Adult Patients With Immune Thrombocytopenia

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1 weeks ago

Jannine Williams, Compound Development Team Leader at Johnson & Johnson, discusses key takeaways from studies on hemolytic disease of the fetus and newborn (HDFN) presented at ISUOG World Congress 2025.

HDFN is a rare condition characterized by the destruction of fetal red blood cells due to maternal-fetal blood group incompatibility. The condition typically involved the Rh or ABO blood types. Rh incompatibility usually affects subsequent pregnancies due to maternal sensitization that occurs in the first pregnancy. This leads to more severe complications such as intrauterine hydrops fetalis in later pregnancies. ABO incompatibility can impact the first pregnancy due to preexisting maternal antibodies. Symptoms of disease in newborns include lethargy, jaundice, hepatosplenomegaly, and signs of hydrops fetalis.

There are currently no approved therapies for the treatment of HDFN. Pregnancies affected by severe HDFN may need repeated intrauterine transfusions (IUTs), invasive and technically complex surgical procedures that may be associated with increased rate of fetal mortality and premature birth.

Chapters:
Introduction 00:00
HDFN and its Unmet Needs 00:39
Causes of Disease 4:01
Signs and Symptoms 4:35
Risk of Disease 5:29
Nipocalimab Clinical Trial 6:05
ISUOG Presentations 6:35
Take Home Message 9:13

ISUOG World Congress 2025: Hemolytic Disease of the Fetus and Newborn

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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

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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

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

Results From the PEGASUS Clinical Trial of Pegvaliase in Patients With PKU

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3 weeks ago

$Amer Zeidan, MBBS, MHS, Professor of Internal Medicine at Yale School of Medicine and Chief of the Division of Hematologic Malignancies at Yale Cancer Center, discusses plans for a phase 2/3 clinical trial testing bexmarilimab plus standard of care in patients with myelodysplastic syndromes (MDS). MDS are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels. Signs and symptoms may include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some people with MDS, the condition progresses to bone marrow failure or develops into acute leukemia. MDS develops when a cell with a genetic change replicates, and the resulting copies begin to predominate in the bone marrow and suppress healthy stem cells. The genetic change may result from a genetic predisposition, or from injury to the DNA caused by an exposure such as chemotherapy or radiation. In many people with MDS there is no obvious exposure or cause. The BEXMAB clinical trial is an open-label, phase 1/2 study evaluating bexmarilimab in combination with standard of care azacitidine in the aggressive hemtological malignancies of acute myeloid leukemia and MDS. The study included 20 frontline patients with higher risk MDS and 35 patients with relapsed/refractory MDS. The primary endpoint was to determine safety and tolerability. Bexmarilimab is an investigational immunotherapy that targets myeloid cell function and stimulates the immune system. It has been designed to overcome resistance to existing treatments and optimize clinical outcomes by binding to Clever-1, an immunosuppressive receptor located on macrophages causing tumor growth and metastases. Results from this study showed a 100% overall response rate in five frontline MDS patients and 80% in 20 relapsed/refractory patients. A median overall survival estimate of 13.4 months was reported in the relapsed/refractory population. During dose escalation, no dose limiting toxicities were reported. Ongoing safety follow-up indicates 13.7% of treatment-emergent adverse events are considered related to bexmarilimab. Following an end-of-phase 2 meeting with the U.S. Food and Drug Administration (FDA), positive feedback was provided on the BEXMAB clinical trial. The meeting was held to align on the design of the planned registrational phase 2/3 trial evaluating bexmarilimab in combination with azacitidine for patients with treatment-naïve higher-risk MDS. The trial will begin with a dose optimization run-in period comparing 1 mg/kg and 3 mg/kg regimens with placebo, all in combination with azacitidine. Once optimal dose is determined, the study will transition to a registrational stage including an interim analysis to support accelerated approval based on IWG 2023 response criteria in frontline patients. The FDA confirmed that IWG 2023-defined Complete Response (CR) + CR equivalent (CReq) as an acceptable primary endpoint to support an application for accelerated approval in frontline patients. In line with this, CR + CReq and overall survival will be co-primary efficacy endpoints in the phase 2/3 trial. Accelerated approval will then be pursued based on interim results on the CR + CReq data. Composite complete remission will be the key secondary endpoint. Chapters: Introduction 00:00 High-Risk Myelodysplastic Syndromes 00:24 Bexmarilimab Overview 2:06 Clinical Studies 3:05$

Plans for Phase 2/3 Clinical Trial of Bexmarilimab Plus SOC in Patients With MDS

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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

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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1 months ago

September is Histiocytosis Awareness Month!

Histiocytosis is a rare hematologic disorder characterized by the overproduction of histiocytes, leading to granulomas in many areas of the body. In about half of the cases, genetic changes in the BRAF gene appear to be involved;…

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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

Robin Williams, MD, Pediatric Hematology Oncologist at M Health Fairview Masonic Children’s Hospital, discusses her experience diagnosing and treating a patient with Castleman disease (CD).

CD is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown.

Idiopathic multicentric Castleman disease (iMCD) often mimics other conditions such as blood cancer, autoimmune diseases, or infectious diseases. This often leads to patients going through many specialists and may take years before a proper diagnosis is made. This is exemplified in the case of Avion Dent, a high school student and star football player, who was hospitalized with a severe, mystery illness the summer before his sophomore year.

Initially believing it was a problem with his appendix, he underwent surgery before being rehospitalized when symptoms persisted. Avion presented with fluid in his stomach, enlarged lymph nodes, worsening kidney function, and debilitating fatigue. He was in critical conditions and on medications to control blood pressure and help “cool” his body down from the inflammation. After being seen by numerous specialists and undergoing various tests, he was finally diagnosed with iMCD TAFRO subtype in October.

There are no guidelines for treating a newly diagnosed patient with CD so treatment is highly individualized. After consulting with colleagues and those familiar with CD, Dr. Williams was able to create a treatment plan for Avion.

Chapters:
Introduction 00:00
Castleman Disease Overview 00:49
Signs and Symptoms 2:15
Diagnostic Experience 4:21
Red Flag Symptoms 6:44
Current Management 8:21
Importance of Awareness 10:04

Diagnosing and Treating a Patient With Castleman Disease

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2 months ago

Alessandro Albuquerque, MD, PhD, Chief Medical Officer of Recordati Rare Diseases North America, discusses unmet needs of patients with Cushing’s syndrome.

Cushing's syndrome is a rare endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas.

In April of 2025, the U.S. Food and Drug Administration (FDA) approved osilodrostat for the treatment of Cushing’s syndrome in addition to its previous indication for Cushing’s disease.

Dr. Albuquerque explains the unmet need of understanding quality of life in patients with Cushing's syndrome. As a chronic condition, patients with Cushing’s syndrome may have difficulties in perceiving and accepting impacts to their quality of life. However, understanding symptom burden can help in choosing appropriate treatment and care as well as advance research.

Additionally, patients with Cushing’s disease often experience long diagnostic journeys, often due to the heterogeneity of symptoms and the ununified system that exists in the U.S. healthcare system. This unmet need highlights the necessity for better screening practices and communication between a patient’s different healthcare providers. Early diagnosis in these patients is key in effectively managing the disease and providing proper treatment.

Chapters:
Recordati's Work in Rare Diseases 00:00
Poster Presentations 1:48
Diagnosis 3:02
Patient Advocacy 5:26

Unmet Needs of Patients With Cushing’s Syndrome

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2 months ago

Mario Maldonado, MD, Global Head of Clinical Development for Endocrinology at Recordati Rare Diseases, discusses Recordati’s presentations at ENDO 2025.

LINC6 Clinical Trial

LINC 6 is an ongoing, prospective observational study evaluating the long-term safety and efficacy of osilodrostat over 3 years in 205 adult patients with Cushing’s disease (CD) and non-pituitary Cushing’s syndrome (non-PCS). Osilodrostat is a potent 11β-hydroxylase inhibitor. Results were presented from a 2 year interim analysis.

Treatment-related adverse events were reported 91 times in 34 patients with CD and 14 times in 9 patients with non-PCS, most being mild to moderate. The most common treatment-related adverse events in patients with CD were adrenal insufficiency, diarrhea, dizziness, fatigue, and nausea. In patients with non-PCS the most common adverse events were adrenal insufficiency, hypokalemia, abnormal hormone cortisol level, dizziness, hirsutism, joint stiffness, musculoskeletal stiffness, and nervous system disorder.

A total of 17 patients with CD reported 29 serious adverse events, while 10 patients with non-PCS reported 16 serious adverse events. Patients with CD and non-PCS reported 21 and 9 hypocortisolism-related adverse events, 16 and 6 adrenal hormone precursor accumulation-related adverse events, and 3 and 0 arrhythmogenic potential/QT interval prolongation-related adverse events, respectively. Patients with CD had 3 pituitary tumor enlargement-related adverse events. At month 3, mUFC and LNSC were normal in 73.9% and 56.3% of pts. By month 6, mUFC and LNSC were normal in 63.0% and 30.4% of pts.

Osilodrostat Rollover Study

The LINC rollover study was an open-label, multicenter trial evaluating long-term safety and efficacy of osilodrostat in patients with CD. A total of 127 participants were included after completing either the LINC 2, LINC 3, or LINC 4 clinical trial extension phase.

All patients experienced at least one adverse event, with 86.6% considered treatment related. The most common adverse events were nausea, adrenal insufficiency, and fatigue. Serious adverse events were reported in 44.9% of participants, with 8.7% considered treatment related. The most common serious adverse event was adrenal insufficiency. Additionally, adverse events related to accumulation of adrenal hormone precursors were reported in 65.4%, hypocortisolism in 55.9%, pituitary tumor enlargement in 8.7%, and arrhythmogenic potential and QT prolongation in 5.5%.

At the end of treatment, 78% continued to receive clinical benefit. From baseline to week 12 of the parent studies, mean urinary free cortisol levels decreased from 561.5 nmol/24 h to 85.0 nmol/24 h, mean glycated hemoglobin levels decreased from 5.8% to 5.6%, mean systolic blood pressure decreased from 130.7 mmHg to 123.2 mmHg, body weight generally decreased over time, and potassium and sodium levels remained stable and normal.

Chapters:
Introduction 00:00
Recordati Overview 00:19
Poster Presentations 1:25
Recordati's Future 7:28

Recordati’s Presentations at ENDO 2025

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2 months ago

CTCL is a rare blood cancer that presents unique challenges in its diagnosis. A new interactive tool is aiming to provide physicians information on the complicated staging of patients with mycosis fungoides or Sézary syndrome, two subtypes of CTCL.

Visit http://PROBEinCTCL.com…

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2 months ago

Pamela Blair Allen, MD, MSc, Hematologist, discusses the new PROBE staging tool for cutaneous T-cell lymphoma (CTCL).

Cutaneous T-cell Lymphomas (CTCL) are rare, heterogeneous types of non-Hodgkin T-cell lymphoma that primarily manifest in the skin but can involve other disease compartments. CTCLs include a spectrum of variants. Mycosis Fungoides and Sézary Syndrome together are the most common CTCL subtypes.

Due to its challenging presentation, CTCL may be misdiagnosed, with some patients waiting 2 – 7 years for an accurate diagnosis. In an attempt to provide more information around the challenges of diagnosis and staging mycosis fungoides and Sezary Syndrome, the CTCL Staging Tool on PROBEinCTCL.com was developed help healthcare providers (HCPs) navigate the complicated process of accurately staging patients with Sézary syndrome and mycosis fungoides.

The tool takes physicians through a combination of up to 20 yes or no questions that are paired with real clinical case imagery. These questions bring physicians through the TNMB system, which evaluates the extent of disease across 4 compartments: skin (T), lymph nodes (N), visceral/metastasis (M), and blood (B). Upon completion, users are shown a staging which aligns most closely with the patient case provided and are directed to additional clinically relevant information for more guidance.

The tool draws from the National Comprehensive Cancer Network Guidelines and clinical trial design and staging recommendations from the International Society for Cutaneous Lymphomas (ISCL), the United States Cutaneous Lymphoma Consortium (USCLC), and the European Organisation for Research and Treatment of Cancer (EORTC).

Learn more here: http://bit.ly/45kmTVz

Supported by Kyowa Kirin, Inc.

August 2025, COR-US-ONC-0115

New Staging Tool Available for Healthcare Providers Treating Patients With CTCL

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2 months ago

Jamie Koprivnikar, MD, Hematologist Oncologist at Hackensack University Medical Center, discusses her clinical experience with iptacopan for the treatment of paroxysmal nocturnal hemoglobinuria (PNH).

PNH is an acquired disorder that leads to the premature death of blood cells due to disruption within the complement system. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin, shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and thrombosis or hemorrhage, and are at increased risk of developing leukemia.

Diagnosis of PNH is typical of most rare diseases, with patients seeing an average of 5 physicians before diagnosis. Current standard-of-care management of the disease is the use of complement inhibitors. Dr. Koprivnikar describes treatment choice as a very patient-led and highly individualized decision in the PNH space.

Iptacopan is an oral, Factor B inhibitor of the alternative complement pathway indicated for the treatment of adults with PNH. It is a newer agent in the treatment of PNH, gaining its U.S. Food and Drug Administration (FDA) approval in 2023. It is the first oral monotherapy for treatment of PNH, giving patients greater freedom in their care. Iptacopan has been observed to inhibit complement more proximally, allowing for robust recovery of hemoglobin and low rates of breakthrough hemolysis.

Chapters:
Introduction 00:00
PNH Overview 1:22
Diagnosis and Symptoms 3:04
Current Management 5:44
Clinical Experience With Iptacopan 7:20

Clinical Experience With Iptacopan for Treatment of PNH

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Hematologic Disorders

Many of the more “common” blood diseases are considered “rare,” affecting less than 200,000 U.S. citizens. These conditions primarily affect the blood & blood-forming organs. In this section we provide news, research summaries, and meeting reports relevant to the hematologic community.

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

Rilzabrutinib Approval for Adult Patients With Immune Thrombocytopenia

ISUOG World Congress 2025: Hemolytic Disease of the Fetus and Newborn

Plans for Phase 2/3 Clinical Trial of Bexmarilimab Plus Standard of Care in Patients With Myelodysplastic Syndromes

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

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

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

FDA Approves Sanofi’s Rilzabrutinib for Treatment of Patients with Chronic ITP

Diagnosing and Treating a Patient With Castleman Disease

Recordati Rare Disease Initiatives

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