Dale Colorado, DO, Vice Chair of Education and Program Director of UAB Rehabilitation Pavilion, discusses the importance and impact of the new Merz Therapeutics Training Room at the University of Alabama Rehabilitation Pavilion.

The new training room will provide specialized, hands-on education for medical students, residents, fellows and faculty in advanced, evidence-based techniques for treating neuromusculoskeletal disorders. The training room will be equipped with learning technologies such as a virtual anatomy dissection table, diagnostic ultrasound systems, injection simulation models, electromyography (EMG) training tools and audiovisual equipment for live demonstrations.

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Lawrence Lustig, MD, Professor at Columbia University Medical Center, discusses early results from the CHORD clinical trial testing gene therapy to treat otoferlin-related hearing loss.

Otoferlin (OTOF)-related hearing loss is a rare genetic auditory synaptopathy that results from defective synaptic transmission from normally functioning cochlear inner hair cells to the auditory nerve. The condition typically results in deafness at birth and current management involves cochlear implants.

DB-OTO is a virally mediated dual adeno-associated virus 1(AAV1) gene therapy that delivers human OTOF complementary DNA regulated by a hair-cell specific promoter. By restoring normal otoferlin function the therapy has the potential to also restore hearing.

The CHORD clinical trial (NCT05788536) is an investigational phase 1/2, open-label, multicenter study evaluating the safety, efficacy, and tolerability of DB-OTO in children and infants with biallelic OTOF mutations. Data was recently presented from an open-label, single-group, first-in-human registrational study of 12 patients treated with DB-OTO.

After a single infusion of DB-OTO, a pure-tone audiometry average threshold of 70 dB hearing level or less at week 24 and an auditory brain-stem response at or below 90 dB normalized hearing level was found in 75% of patients. Six of these patients were able to hear soft speech without assistive devices, and 3 had average normal hearing sensitivity. A total of 67 adverse events were reported but none led to discontinuation of treatment.

Dr. Lustig explains that next steps include evaluating DB-OTO in a larger patient cohort and following those already enrolled for long-term data and results.

Chapters:
Introduction 00:00
Otoferlin-Related Hearing Loss Overview 00:44
Current Management 1:29
DB-OTO Overview 1:52
CHORD Clinical Trial 2:33
Next Steps 3:56

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Tiffany Graham Charkosky, author and patient with Lynch syndrome, discusses her experience with genetic testing and her book LIVING PROOF: How Love Defied Genetic Legacy.

Lynch syndrome is a rare inherited condition characterized by increased risk for colorectal, endometrial, and several other types of cancers. It is caused by mutation in one of five different genes: MLH1, MSH2, MSH6, PMS2, or EPCAM. Patients with Lynch syndrome are more likely to develop cancer before 50 years of age.

Tiffany was 11 years old when she lost her mother to hereditary colon cancer. Almost 20 years later, her uncle was battling the same cancer and underwent genetic testing that showed a mutation in his MSH6 gene, leading to a diagnosis of Lynch syndrome. This prompted Tiffany to also undergo genetic testing where she was also diagnosed with Lynch syndrome.

Tiffany explains the fear she felt before deciding to pursue genetic testing, noting that she knew the worst case scenario and could not fathom going through what she watched her mother and uncle experience. However, after receiving her diagnosis and having access to support and resources from her care team, Tiffany feels hopeful about the future management of Lynch syndrome and works hard to maintain her health. She highlights the importance of healthcare practitioners considering mental health and the emotional side to genetic testing and diagnosis in their practice.

Her advice to new patients is to feel your feelings and let yourself be human. Shortly after her diagnosis, Tiffany explains how she rushed into making decisions that were based in fear. She wishes she had given herself more grace and time to decide on certain things, given that she was not currently sick with cancer. She also wants others to know that their diagnosis does not change who they are as a person and that they shouldn’t feel shame or guilt.

Tiffany’s current management includes routine screenings with colonoscopies, endoscopies, and, eventually, pancreatic screening. She has also had a few surgeries including a hysterectomy and the removal of her cervix, fallopian tubes, and ovaries. In addition, she gets regular dermatology checks, urine tests, and bloodwork.

Tiffany has also been involved in a phase 2b cancer vaccine clinical trial looking to evaluate the effects and outcomes in patients with Lynch syndrome compared to standard screening. The trial involves four doses of a mix of three substances found in cancers over the course of a year. Her cohort is active and includes 150 patients randomized to the vaccine or placebo. Testing is currently being done to see if it will move into a phase 3 study.

Tiffany’s goal with her book, Living Proof: How Love Defied Genetic Legacy, was to write what she wished she could have read when going through genetic testing and her diagnosis. The book takes the reader through the journey of diagnosis and reflects on how her journey brought up feelings from watching her mom battle the same disease, giving insight into why she felt how she felt and the decisions that she made. She hopes that the book not only gives insight into Lynch syndrome, but also illustrates how one can feel connected to those who came before and how to live a meaningful life even if it isn’t in the genes you wish you were born with.

To learn more about Tiffany’s story and her book, visit https://tiffanygrahamcharkosky.com/book

Chapters:
Introduction 00:00
Lynch Syndrome Overview 00:21
Difference From Mother’s Diagnostic Journey 2:32
What Patients Should Know About Genetic Testing 5:20
Current Management 10:21
Cancer Vaccine Clinical Trial 12:59
Emerging Research 15:10
Advice to Newly Diagnosed Patients 16:54
Living Proof: How Love Defied Genetic Legacy 19:47

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Christelle Huguet, PhD, Head of Research and Development at Ipsen, discusses the company’s current approved orphan drugs and those in development for rare diseases.

Ipsen’s work in the rare disease space aims to address areas of high unmet medical needs; such as in disease spaces where current standard of care falls short or in spaces where no therapy currently exists. Three such diseases are fibrodysplasia ossificans progressiva (FOP) and rare liver conditions such as primary biliary cholangitis (PBC) and progressive familial intrahepatic cholestasis (PFIC).

For managing patients with FOP, the company earned the first treatment approved for this rare condition, Sohonos (palvarotene). Palvarotene is an orally bioavailable retinoic acid receptor agonist that binds to RARγ, leading to reduced new endochondral bone formation. Another orphan drug in development by Ipsen is, fidrisertib, an oral investigational therapy designed to selectively target the mutant FOP receptor currently being evaluated for FOP in the FALKON phase 2 trial.

Regarding the management of rare liver disorders,the company has gained approvals for Irivo (elafibranor), a peroxisome proliferator-activated receptor agonist, for PBC and Bylvay (odevixibat), an ileal sodium/bile acid cotransporter inhibitor for PFIC and Alagille syndrome. Ipsen has also expanded into the rare oncology space with work in pediatric low-grade glioma where tovorafenib, a type 2 RAF inhibitor and alternative to chemo, was approved by the FDA in 2024.

Dr. Huguet describes some of the unique challenges associated with drug development in the rare disease space including a limited number of patients and limited existing research. These pose obstacles in clinical trial design and enrollment as well as in the development of primary endpoints to garner regulatory registration and approval.

Dr. Huguet also highlights the importance of the patient voice in clinical trial design where there is little known about the underlying biology of disease and patient journey. Information on a patient’s daily life and experiences can help develop more effective and patient-focused clinical trials with robust endpoints.

Ipsen is also currently evaluating the use of odevixibat in patients with biliary atresia and elafibranor in patients with primary sclerosing cholangitis, with read outs and registrational study development planned for 2026.

Chapters:
Introduction 00:00
Ipsen’s Rare Disease Focuses 00:30
Challenges of Rare Disease Treatment Development 2:38
Clinical Trials and Patient Voice 6:15
Rare Oncology Work 8:35
Clinical Trial Data for 2026 11:38

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Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Raphael Schiffmann, MD, of the Texas Christian University, discuss best practices to identify and treat neurologic problems associated with lysosomal disorders.

This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To complete the program and obtain credit, visit https://checkrare.com/learning/p-lysosomal-disorders-and-the-brain/ 
Support for this educational activity provided by Takeda and Ultragenyx.

Learning Objectives

• After participating in the activity, learners should be better able to:
• Describe the role of the neurologist in the team approach to care
• List best practices to assess neurologic and cognitive involvement  in persons with LDs
• Cite best practices to assess developmental delay and regression in pediatric patients with suspected LDs
• Describe the latest clinical research to improve central outcomes in persons with LDs and central nervous system involvement
Faculty
Ozlem Goker-Alpan, MD, 
Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC), Fairfax, VA 

Raphael Schiffmann, MD
Texas Christian University,
Fort Worth, TX

Disclosures
AffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.

Ozlem Goker-Alpan MD
Dr. Goker-Alpan is on the Advisory Board/Consultant for Chiesi, Takeda, Sanofi, Prevail/Lilly, Sparks Therapeutics, Uniqure, Exegenesis, Astellas, Freeline, Team Sanfilippo. She receives grants/research support from Chiesi, Sanofi, Takeda, Prevail/Lilly, Spark Therapeutics, Amicus, Freeline, Sangamo, Cyclo, Odorsia, $DMT, Homology, Protaliz. She is on the speaker bureau for Sanofi, Takeda, Amicus, Chiesi.

Raphael Schiffman, MD
Dr. Schiffmann is consultant for Amicus Therapeutics, Protalix Biotherapeutics, Chiesi Farmaceutici and 4D Molecular Therapeutics

Mitigation of Relevant Financial Relationships
AffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.
 
Physicians
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.

AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Physician Assistants
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.

AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.

Nurses
Continuing Nursing Education is provided for this program through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit.

Nurse Practitioners
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.

AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should cla...

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Scott Baver, PhD, Vice President of Medical Affairs at ITF Therapeutics, discusses new data on the use of Duvyzat (givinostat) for patients with Duchenne muscular dystrophy (DMD).

DMD is a rare neuromuscular disorder characterized by 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 that is involved in the synthesis of dystrophin.

Givinostat is an orally administered histone deacetylase (HDAC) inhibitor that regulates excessive HDAC activity in DMD muscles and restores expression of key genes and biological processes essential for muscle maintenance and repair. It is currently indicated for treatment of patients with DMD ages 6 years and older.

New data on the use of givinostat in patients with DMD was presented at the 2025 Neuromuscular Study Group (NMSG) Annual Scientific Meeting.

Chapters:
Introduction 00:00
DMD Landscape Overview 00:28
Givinostat Overview 1:24
Data Presented at NMSG 2:46
Next Steps 5:00
Take Home Message 5:45

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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

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Join rare disease leaders in D.C. Oct. 19-21.

Shape the future of rare disease treatments, research, and policy at the 2025 NORD® Rare Diseases and Orphan Products Breakthrough Summit.® Learn more and register at nordsummit.org.

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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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