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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.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: [email protected]

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).

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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

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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

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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

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Mike Flanagan, PhD, Chief Scientific Officer at Avidity Biosciences, discusses new data from the EXPLORE44 open-label extension of del-zota for treatment of patients with Duchenne muscular dystrophy (DMD) amenable to exon 44 skipping.

DMD affects the muscles, leading to progressive muscle wasting. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and atrophy of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. DMD is caused by genetic changes in the DMD gene.

Del-zota is a proprietary monoclonal antibody that binds to transferrin receptor 1 conjugated to a phosphorodiamidate morpholino oligomer (PMO) targeting exon 44, enabling dystrophin production. The EXPLORE44 clinical trial (NCT05670730) was a phase 1/2 evaluating the safety, tolerability, pharmacokinetics, and pharmacodynamics of del-zota in 26 patients with DMD mutations amenable to exon 44 skipping. Participants then had the option to enroll in the EXPLORE44 open-label extension study.

The open-label extension (NCT06244082) was a multi-center trial evaluating the long-term safety, tolerability, pharmacokinetics, and pharmacodynamics, and efficacy of del-zota in 39 total patients with DMD amenable to exon 44 skipping.

Results with del-zota demonstrated statistically significant increases of about 25% of normal in dystrophin production and restored total dystrophin up to 58% of normal. Creatine kinase levels were also rapidly reduced by greater than 80% compared to baseline and were sustained at near normal levels throughout the duration of evaluation (up to 16 months). Half of the participants also had creatine kinase levels within the normal range at one year of treatment.

Additionally, patients in the open-label extension demonstrated improvements in four-stair climb by 2.1 seconds from baseline, 10-meter walk/run test by 0.7 seconds from baseline, time to rise from floor by 3.2 seconds from baseline, North Star Ambulatory Assessment remained stable, and performance of upper limb by 1.5 points from baseline. Compared to natural history data, these results were significant improvements.

Finally, del-zota continued to demonstrate favorable long-term safety and tolerability in this open-label extension. The majority of treatment emergent adverse events were mild or moderate and the most common were upper respiratory tract symptoms, diarrhea, fall, back pain, and headache. There was one discontinuation following an event of hypersensitivity.

Next steps involve plans for a Biologics License Application (BLA) submission for Accelerated Approval to the U.S. Food and Drug Administration (FDA) by the end of 2025.

Chapters:
Introduction 00:00
DMD Landscape Overview 00:28
Del-Zota Overview 2:12
Clinical Trial Data 2:57
Next Steps 6:05

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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

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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

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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

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