Maria Picone, co-founder and CEO of the TREND Community, and mother of a 14-year-old with Prader-Willi syndrome (PWS), discusses her family’s journey with PWS, including why more research and better data are so important. Understanding Prader-Willi...
Advocacy
Rare disease advocacy groups amplify the voices of patients, caregivers, and communities to drive awareness, funding, and policy changes. Whether it’s pushing for faster diagnoses, access to treatments, or equitable healthcare policies, advocates play a vital role in transforming lives.
Therapies for MCT8 Deficiency and Nephrotic Syndrome Get FDA Approval | The CheckRare Brief Ep 10
On this episode, we discuss the approval of therapies for MCT8 deficiency and nephrotic syndrome, as well as the MGFA’s 2026 Scientific Session.
A Patient’s Journey With Essential Thrombocythemia and Polycythemia Vera
Nona Baker, Co-Chair of MPN Voice and patient, discusses her journey with essential thrombocythemia (ET) and polycythemia vera (PV), including diagnosis and treatment.
Rett Syndrome Awareness Month
October is Rett Syndrome Awareness Month, a time dedicated to increasing understanding of Rett syndrome and supporting the individuals and families impacted by this rare neurological condition.
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KAT6 Syndromes
KAT6 syndromes are rare genetic neurodevelopmental disorders caused by genetic mutations in the KAT6A or KAT6B genes. KAT6 syndromes are characterized by speech and motor delay, low muscle tone,...
Pulmonary Arterial Hypertension and Risk of Mental Health Comorbidities
A study published in Pulmonary Circulation evaluated the association between pulmonary arterial hypertension (PAH) diagnosis and risk of newly diagnosed mental health conditions. PAH is a rare...
What to Expect: 2026 MGFA Scientific Session
Jenny McCue, Vice President of Global Research and Clinical Development at the Myasthenia Gravis Foundation of America (MGFA), discusses research highlights to be presented at the upcoming 2026 MGFA...
Results From the Voice of PBC Patient Survey
Carol Roberts, President of The PBCers Organization, discusses results from the Voice of PBC patient survey. PBC is a chronic, progressive autoimmune liver disease in which the bile...
Approval of Imaavy (Nipocalimab) and its Impact on Patients With Warm Autoimmune Hemolytic Anemia
Karen A. Jones, EdD, President and CEO of wAIHA Warriors, discusses the approval of Imaavy (nipocalimab) and its impact on patients with warm autoimmune hemolytic anemia (wAIHA). wAIHA is a...
First-Line Therapy Approved for Rare Lung Cancer | The CheckRare Brief Ep 7
This week, three developments highlight the rapidly changing rare disease treatment landscape: a Phase 3 setback in Angelman syndrome, continued competition in hereditary angioedema, and an...
Fabry Disease: Patients’ Real-World Problems and How to Manage Them
Fabry Disease: Patients' Real-World Problems and How to Manage Them Staci Kallish, DO; Dawn Laney, MS, CGS, CCRCThis educational program, hosted by Staci Kallish, DO, and Dawn Laney, MS, CGS, CCRC,...
New Huntington’s Disease Gene Therapy Application | The CheckRare Brief Ep 6
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...
New Graves’ Disease Community Website
Christine Gustafson, Executive Director and CEO of the TED Community Organization, discusses the new Graves’ Community website. Graves’ disease is an autoimmune disease characterized...
Narcolepsy Diagnosis and Symptoms: Understanding the Daily Burden of the Disease
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...
Narcolepsy Awareness Month
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. ...
Kleefstra Syndrome: Development of RNA Amplifier Therapy
Eric Scheeff, PhD, Chief Scientific Officer at iDefine, discusses the treatment development of RNA amplifiers in patients with Kleefstra syndrome. Kleefstra syndrome is a rare disorder...
Making Travel Accessible: SMAshing My Limits Partners With Becoming rentABLE
Tracey Dawson, PhD, Senior Vice President, US Therapeutic Area Head Neuroscience at Novartis, discusses the collaboration between Novartis, SMAshing My Limits, and Becoming rentABLE, striving to...
Getting a Rare Disease Drug Approved Is Only Half the Battle | The CheckRare Brief Ep 4
FDA approval is a major milestone, but for patients with rare diseases, it is only the beginning. In this episode of The CheckRare Brief, we look at two new rare disease approvals, ongoing...
Addressing Patient Experiences With IgA Nephropathy
Gaia Coppock, MD, Nephrologist and Associate Professor of Clinical Medicine at the University of Pennsylvania, discusses patient experiences with IgA nephropathy (IgAN). IgAN is...
Patient Perspective: Diagnostic Journey With IgA Nephropathy
Byron Wade, a patient with IgA nephropathy (IgAN), discusses his personal diagnostic journey and a recent study looking at other patients’ experiences. IgAN is characterized by the...
Rare Endocrine Exchange: Why This Conversation Matters
Rare endocrine disorders can be difficult to recognize, challenging to diagnose, and even harder for patients to navigate. For many patients, the journey to an accurate diagnosis can take years....
FDA Approves New Narcolepsy Treatment | The CheckRare Brief
On this week’s episode of The CheckRare Brief, we discuss FDA's approval of Orzeyful (oveporexton) to treat patients with narcolepsy type 1, CAMP4’s first-in-human clinical trial for patients...
Safety and Efficacy of Kygevvi in Thymidine Kinase 2 Deficiency
Caterina Garone, PhD, MD, Associate Professor at the University of Bologna, discusses safety and efficacy data on Kygevvi (doxecitine and doxribtimine) in patients with thymidine kinase 2 deficiency...
FDA Advisory Board’s Concerns About New Duchenne Drug, Brain Fog in Immune Thrombocytopenia
The CheckRare Brief delivers a concise summary of the week's most important developments in rare diseases. Each episode covers FDA approvals, clinical trial updates, conference highlights,...
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Garetosmab Demonstrates Sustained Efficacy in Adults With Fibrodysplasia Ossificans Progressiva
CheckRare 9 hours ago