Living with Fabry disease can involve much more than managing the underlying disease. Patients may experience chronic pain, fatigue, headaches, cognitive concerns, hearing difficulties, and complications involving the heart and kidneys. Coordinating care among multiple specialists can add another layer of complexity.

In this episode, Staci Kallish, DO, Associate Professor of Clinical Medicine at the Perelman School of Medicine at the University of Pennsylvania, and Dawn Laney, MS, CGC, CCRC, Genetic Counselor and Program Leader of the Lysosomal Storage Disease Center at Emory University School of Medicine, discuss the real-world challenges faced by people living with Fabry disease.

The conversation features candid patient perspectives on four key areas of Fabry care:

• Managing symptoms: Why neuropathic pain, abdominal pain, headaches, fatigue, and other persistent symptoms may require approaches beyond Fabry-specific therapy.
• Managing cardiac and stroke risk: Why routine tests may not always provide the full picture and how experienced Fabry specialists can work with local cardiologists and other providers.
• Protecting kidney health: The importance of distinguishing Fabry-related kidney disease from other kidney problems and ensuring that nephrologists understand the unique risks associated with Fabry disease.
• Coordinating a multidisciplinary care team: How a “quarterback” or medical home can help connect geneticists, cardiologists, nephrologists, primary care physicians, and other specialists.
Drs. Kallish and Laney also discuss the importance of recognizing invisible symptoms, understanding individual pain triggers, using recommended schedules of assessments, accessing therapies closer to home, and taking advantage of patient advocacy and financial assistance resources.

For patients and families living with Fabry disease, the message is clear: effective care requires more than treating the disease—it requires understanding the person living with it.

This educational program is a non-CME activity made possible by an unrestricted grant from Amicus Therapeutics.

Produced by CheckRare. 

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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In this episode of The CheckRare Brief, we discuss two recent FDA approvals for rare diseases, including Zanvastro for Alexander disease and Besremi for essential thrombocythemia (ET). We also examine a new gene therapy application for Huntington’s disease and what it could mean for patients with this devastating inherited disorder.

The FDA has approved Zanvastro, the first drug indicated to treat patients with Alexander disease, an extremely rare and progressive neurological disorder affecting approximately 1 to 3 people per million. The disease is caused by mutations in the GFAP gene that result in abnormal GFA protein accumulation in brain cells. Zanvastro is designed to reduce production of this abnormal protein. The approval was based on data from 49 patients, along with additional data from an open-label extension study. Ionis Pharmaceuticals also received a Rare Pediatric Disease Priority Review Voucher, which can provide priority review for a future FDA application and can have significant financial value.

The FDA also approved Besremi for adults with essential thrombocythemia (ET), a rare blood disorder in which the bone marrow produces too many platelets. This can increase the risk of blood clots and abnormal bleeding. Besremi is an interferon-based therapy that reduces abnormal platelet production and is already approved for polycythemia vera. Expanding an existing therapy into additional rare diseases is an increasingly common strategy in drug development, allowing companies to build on existing clinical and safety data while potentially reaching new patient populations.

Another important development involves Huntington’s disease, a devastating inherited neurological disorder caused by a mutation in the HTT gene. Symptoms typically emerge in adulthood and can include progressive movement problems, as well as cognitive, psychological, and behavioral changes. uniQure has submitted a Biologics License Application ( BLA), to the FDA for its gene therapy candidate. The submission follows extensive discussions between uniQure and the FDA, with the agency ultimately agreeing that existing three-year data could support a BLA under the accelerated-approval pathway. The application now moves into the formal FDA review process, making this an important development to watch for patients and families affected by Huntington’s disease.

Together, these developments highlight several important trends in rare disease drug development—from new approaches for extremely rare genetic disorders, to expanding existing therapies into additional indications, to the growing potential of gene therapy. As researchers continue to better understand the biology of rare diseases, these approaches could open new possibilities for patients who have historically had few treatment options.

References
FDA approved Zanvastro for Alexander disease
https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-alexander-disease 
FDA approved Besrimi for essential thrombocythemia
https://checkrare.com/fda-approves-besremi-for-treatment-of-adults-with-essential-thrombocythemia/
Uniqure submits BLA with the FDA for a gene therapy for Huntington's disease
https://www.uniqure.com/investors-media/press-releases



Produced by CheckRare.

Explore additional CME activities, physician interviews, podcasts, and rare disease resources at CheckRare.com. Subscribe to the CheckRare Podcast Network for the latest rare disease education, expert interviews, and weekly news.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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In this episode of The CheckRare Brief, we discuss two recent FDA approvals for rare diseases, including Zanvastro for Alexander disease and Besremi for essential thrombocythemia (ET). We also examine a new gene therapy application for Huntington’s disease and what it could mean for patients with this devastating inherited disorder.

The FDA has approved Zanvastro, the first drug indicated to treat patients with Alexander disease, an extremely rare and progressive neurological disorder affecting approximately 1 to 3 people per million. The disease is caused by mutations in the GFAP gene that result in abnormal GFA protein accumulation in brain cells. Zanvastro is designed to reduce production of this abnormal protein. The approval was based on data from 49 patients, along with additional data from an open-label extension study. Ionis Pharmaceuticals also received a Rare Pediatric Disease Priority Review Voucher, which can provide priority review for a future FDA application and can have significant financial value.

The FDA also approved Besremi for adults with essential thrombocythemia (, or ET), a rare blood disorder in which the bone marrow produces too many platelets. This can increase the risk of blood clots and abnormal bleeding. Besremi is an interferon-based therapy that reduces abnormal platelet production and is already approved for polycythemia vera. Expanding an existing therapy into additional rare diseases is an increasingly common strategy in drug development, allowing companies to build on existing clinical and safety data while potentially reaching new patient populations.
Another important development involves Huntington’s disease, a devastating inherited neurological disorder caused by a mutation in the HTT gene. Symptoms typically emerge in adulthood and can include progressive movement problems, as well as cognitive, psychological, and behavioral changes. uniQure has submitted a Biologics License Application (, or BLA), to the FDA for its gene therapy candidate. The submission follows extensive discussions between uniQure and the FDA, with the agency ultimately agreeing that existing three-year data could support a BLA under the accelerated-approval pathway. The application now moves into the formal FDA review process, making this an important development to watch for patients and families affected by Huntington’s disease.
Together, these developments highlight several important trends in rare disease drug development—from new approaches for extremely rare genetic disorders, to expanding existing therapies into additional indications, to the growing potential of gene therapy. As researchers continue to better understand the biology of rare diseases, these approaches could open new possibilities for patients who have historically had few treatment options.

References
FDA approved Zanvastro for Alexander disease

https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-alexander-disease

FDA approved Besrimi for essential thrombocythemia
https://checkrare.com/fda-approves-besremi-for-treatment-of-adults-with-essential-thrombocythemia/

Uniqure submits BLA with the FDA for a gene therapy for Huntington's disease
https://firstwordpharma.com/story/7940898
https://www.uniqure.com/investors-media/press-releases

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For people living with rare endocrine disorders, getting an accurate diagnosis can be a long and frustrating journey. Symptoms may be subtle, overlap with more common conditions, or involve multiple organ systems, making it difficult for healthcare providers to recognize the underlying disorder.

In this episode of the Rare Endocrine Exchange, endocrinologists Dr. Margarita Ochoa-Maya and Dr. Jim Radke discuss why diagnostic delays occur and what can be done to help patients reach the right diagnosis sooner.

The conversation explores several important questions:

• Why are rare endocrine disorders so difficult to diagnose? Symptoms may not immediately point to a specific rare condition, and patients may see multiple providers before the pieces come together.
• What is the impact of a delayed diagnosis? Waiting months or years for answers can affect a patient's health, quality of life, and confidence in the healthcare system.
• How can clinicians bridge the diagnostic gap? Recognizing patterns, considering rare diseases when symptoms don't fit, and knowing when to seek additional expertise can help move the diagnostic process forward.
• What should providers do when they don't know what to do next? With thousands of rare diseases, no physician can know them all. Knowing when and where to seek guidance is an important part of caring for patients with complex conditions.
• How can specialists work together more effectively? Rare endocrine disorders often require input from multiple specialties. Better communication and collaboration can help connect the dots and prevent patients from falling through the cracks.The discussion also looks ahead at how patients, providers, and the healthcare system can work together to reduce diagnostic delays and improve care for people living with rare endocrine disease.
Watch the full conversation to hear Dr. Ochoa-Maya and Dr. Radke share their perspectives on improving the path to diagnosis and care.

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Tushar Tangsali, father to two sons with Duchenne muscular dystrophy (DMD), discusses how he’s working to develop a gene therapy for a unique genetic variation of DMD for his sons.

DMD is a rare genetic, neuromuscular condition characterized by progressive muscle wasting. 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.

Mr. Tangsali’s sons are not currently eligible for any of the current therapies, approved or in development, for DMD, due to their unique genetic mutations (8-25delhmdx) of which they are the only two patients in the world. Gene therapies are developed for mutations in a specific region in the dystrophin gene, which accounts for 70% of patients with DMD. Additionally, exon skipping therapies are focused on skipping one exon in that specific region, excluding them from both possibilities.

In 2021-2022, a new gene therapy was developed with sRNA-based skipping that shows promise for patients who need more than one exon skip and different targeting. It was then that Mr.Tangsali reached out to the physicians and researchers working on this and got started testing the technology for his sons’ mutations with the help of CureDuchenne.

Mr. Tangsali has now developed mouse models, working to see if skipping exons 6, 7, and 8 will result in a functional and stable protein and colony phenotyping. The first set of data is expected in early 2027, and if positive will lead to further testing on safety, efficacy, and use in his sons.

Currently, all of the work done has been self-funded by the Tangsali family. However, going forward will require additional funding.

To learn more about DMD and other rare musculoskeletal diseases, visit https://checkrare.com/diseases/musculoskeletal-diseases/

CHAPTERS
Introduction 00:00
Reason for Gene Therapy 00:22
Gene Therapy Development 3:06
Next Steps 7:00
Funding 7:58

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In this episode of The CheckRare Brief, we discuss four recent FDA approvals, including LISRAYA for dermatomyositis and Imaavy for warm autoimmune hemolytic anemia (wAIHA), Mimrylo for polycythemia vera (PV), and Rasonque for pancreatic cancer. We also examine the recent measles outbreak in Pennsylvania.

The FDA has approved Lisraya and Imaavy to treat two different autoimmune diseases – dermatomyositis and wAIHA. Historically, the standard therapy for autoimmune conditions has been steroids. While still common, advances in our understanding of the immune system and the pathophysiology of autoimmune conditions have led to a variety of treatment options. LISRAYA is a dual TYK2 and JAK1 inhibitor, while Imaavy blocks FcRn, a receptor involved in maintaining IgG antibodies in the bloodstream. Both represent newer approaches to targeting the immune system.These approvals highlight an important trend in drug development– companies are looking at how the same drug might help patients with several different diseases. For example, Imaavy was previously approved for myasthenia gravis, and now it’s approved for wAIHA. Additionally, as is the case with Lisraya, sometimes the breakthrough isn't discovering a new drug but finding the right disease for a drug that already exists.

The FDA has also approved Mimrylo, a first-in-class hepcidin mimetic, to treat excessive red blood cell production in adults with PV. In the Phase 3 study that led to the drug's approval, 76.9% of patients taking Mimrylo required no phlebotomies between weeks 20 and 32, compared with 32.9% of patients receiving placebo.Mimrylo was filed by Takeda but developed by Protagonist, showcasing a common collaboration between a smaller biotech company and larger pharmaceutical company when it comes to regulatory submissions and commercialization.

In our last FDA approval of the week, Rasonque has been indicated to treat patients with metastatic pancreatic adenocarcinoma who have received at least one prior systemic therapy or are not candidates for multiagent systemic therapy. Approximately 60,000 patients are diagnosed each year with pancreatic cancer, however, approximately 110,000 are living with the disease. This new medication may help increase the lifespan of patients with this cancer. Study results from the trial that led to the approval were very impressive, with median overall survival doubling from 6.7 months to over 13 months when treated with Rasonque.

Finally, a growing measles outbreak in Pennsylvania is putting the debate over vaccines back in the spotlight. The state has reported hundreds of cases this year and, this week, confirmed two measles-associated deaths for the first time in 35 years. Measles is a rare condition, but only because the majority of people have been vaccinated against it. Most measles outbreaks occur when people who choose not to take the vaccines, often due to a lack of trust in the healthcare system. This story emphasizes how fundamental trust is in physicians, science, medicine and the healthcare system as a whole.

References
FDA approves Lisraya for dermatomyositis
https://www.fda.gov/news-events/press-announcements/fda-approves-first-oral-drug-indicated-treat-dermatomyositis-adults


FDA approves drug for wAIHA
https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-drug-warm-autoimmune-hemolytic-anemia

FDA approves Mimrylo (rusfertied) to treat adults with polycythemia vera
https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-its-kind-polycythemia-vera-rare-blood-disorder

FDA approves orphan drug for Pancreatic Cancer
https://www.fda.gov/news-events/press-announcements/fda-approves-first-class-targeted-therapy-metastatic-pancreatic-cancer

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Amélie Lothe, PhD, Head of Global Medical Community of Rare Epilepsies at UCB, discusses results from a post hoc analysis of trajectories of Fintepla (fenfluramine) effectiveness and safety in patients with Lennox-Gastaut syndrome (LGS).

LGS is a developmental and epileptic encephalopathy (DEE) characterized by multiple types of seizures and intellectual disability that begin in childhood. This condition can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found.

Results from a post hoc analysis of trajectories of fenfluramine effectiveness and safety and dose changes over time were published in Epilepsia Open. The analysis included data from patients treated with fenfluramine who completed an open-label extension (OLE) after receiving either fenfluramine or placebo during the initial phase 3, 14-week randomized controlled trial (RCT).

Of 263 patients enrolled in the RCT, 247 continued into the OLE. Of those, 151 completed 12 months of fenfluramine treatment in the OLE and were included in the post hoc analysis. The analysis evaluated changes over time in the number of seizures associated with a fall, clinically meaningful improvement on the Clinical Global Impression–Improvement (CGI-I) scale, and adverse events in two groups: patients randomized to placebo in the RCT who switched to fenfluramine in the OLE (PBO-FFA; n=59), and those who received fenfluramine in both the RCT and OLE (FFA-FFA; n=92).

At month 1 of the OLE, patients in the PBO-FFA group experienced a 32.1% median reduction in seizures associated with a fall compared with baseline. Patients in the FFA-FFA group experienced a 48.5% median reduction. Seizure reductions of 48.2% were observed in the PBO-FFA group during months 4-6 which were comparable to those in the FFA-FFA group (44.2% reduction).

Clinically meaningful improvements in patient global functioning (CGI-I) were also observed shortly after patients in the PBO-FFA group initiated fenfluramine. By month 12, 52.6% and 46.3% of patients in the PBO-FFA group were rated as demonstrating clinically meaningful improvement by parent/caregiver and investigator, respectively. Similar improvements were observed in the FFA-FFA group, with 50.0% and 50.5% of patients receiving those ratings, respectively.

Finally, the incidence of most commonly reported treatment-emergent adverse events, including decreased appetite, somnolence, fatigue, diarrhea, pyrexia, and nasopharyngitis, increased in the PBO-FFA group at the time of treatment initiation, as expected. However, the incidence of most commonly reported adverse events, including decreased appetite, somnolence, fatigue, and diarrhea, decreased over time with continued treatment.

CHAPTERS
Introduction 00:00
Key Takeaways 00:39
Seizure Reduction 3:41
Improvements in Global Functioning 5:07
Treating Patients With Fintepla 6:33

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Tammy Anderson, Executive Director, and Jenny Rose, Manager of Outreach and Management at Wake Up Narcolepsy, discuss the challenges of diagnosing narcolepsy and the profound impact the disorder can have on patients and their families. Both Ms. Anderson and Ms. Rose are parents of children with narcolepsy.

Narcolepsy is a chronic neurological disorder characterized by an inability of the brain to control sleep-wake cycles. Patients with narcolepsy typically may enter REM sleep more quickly, causing the boundaries between wakefulness and sleep to blur. This causes fragmented sleep at night as well as muscle weakness and dream activity while awake. Common symptoms include excessive daytime sleepiness, cataplexy, sleep paralysis, and hallucinations.

Narcolepsy can be difficult to diagnose, often due to a difference in language used to describe symptoms between patients and physicians. Additionally, symptoms and coping mechanisms of narcolepsy can mimic other conditions such as ADHD, anxiety, depression, and other mental health diagnoses.

According to both Ms. Anderson and Ms. Rose, who are both parents to children with narcolepsy, every aspect of daily life is affected by the disorder. While symptoms, routines, and treatment vary greatly from person to person and day to day, the burden is profound. Narcolepsy can impact a patient’s mental, emotional, and physical health, make it hard to work, do school, extracurriculars and sports, drive, maintain relationships, etc.

Fortunately, the past few years have been an exciting time for the narcolepsy treatment landscape as more is understood about the disease. In August 2026, the first therapy designed to target the underlying cause of disease, Orzeyful (oveporexton), was approved by the US Food and Drug Administration (FDA) for adults with narcolepsy type 1. Ms. Anderson explains the excitement families are feeling following this approval knowing that the approval gives patients another treatment option.

Wake Up Narcolepsy is a nonprofit organization dedicated to supporting community members through education, awareness, support services, and research funds. Through their initiatives, the group hopes to raise awareness and educate patients on communicating with physicians, improve access and affordability of treatments, and support patients and families through support groups and conferences.

September is Narcolepsy Awareness Month.

To learn more about narcolepsy and other rare neurological conditions, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/

CHAPTERS:
Introduction 00:00
Narcolepsy Overview 00:56
Diagnostic Challenges 2:45
Daily Life With Narcolepsy 5:54
Treatment Landscape and Unmet Needs 9:17
Wake Up Narcolepsy 12:01

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September is Narcolepsy Awareness Month, a time dedicated to increasing understanding of narcolepsy and supporting the individuals and families impacted by this rare neurological disorder.

Narcolepsy is characterized by abnormal regulation of sleep-wake states and, in some patients, REM sleep can occur unusually soon after sleep onset, causing the boundaries between wakefulness and sleep to blur. This causes fragmented sleep at night as well as muscle weakness and dream activity while awake. Common symptoms include excessive daytime sleepiness, cataplexy, sleep paralysis, and hallucinations.

The field of narcolepsy has undergone a remarkable transformation over the past decade, with better diagnostic understanding and advances in treatment options improving patient outcomes, including the recent approval of Orzeyful (oveporexton) in August 2026. However, many patients continue to face disease-related challenges that require further research and implementation.

Narcolepsy Awareness Month is an opportunity to recognize the importance of continued research, multidisciplinary care, patient advocacy, and education within the rare disease community.

At CheckRare, we are committed to raising awareness of rare disorders like narcolepsy and helping connect healthcare professionals and patients with timely educational resources, expert insights, and emerging clinical developments.

To learn more about narcolepsy, visit https://checkrare.com/narcolepsy-recognizing-the-signals-reducing-diagnostic-delay-and-improving-patient-outcomes/

For insights on narcolepsy from leading physician Emmanuel Mignot, MD, PhD, visit https://checkrare.com/narcolepsy-breakthroughs-and-emerging-therapies/

Visit Wake Up Narcolepsy at https://www.wakeupnarcolepsy.org/

CHAPTERS
Advocacy Efforts Takeaways 00:00
What Others Should Know About Narcolepsy 1:28

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