In recognition of Rare Disease Day, the NeurologyLive® team offered an extensive update on the state of care and treatment for a wide range of rare neurological diseases, including Kleine-Levin syndrome, amyotrophic lateral sclerosis, cerebral palsy, Lennox-Gastaut syndrome, and more. Established by the European Organisation for Rare Diseases in an effort to raise awareness, the day has been celebrated globally since 2009, when the National Organization for Rare Disorders offered its hand in spreading the day to others, helping to get advocacy groups in the United States—and eventually around the world—to observe the day. The disease primarily affects boys, but in rare cases it can affect girls. In Europe and North America, the prevalence of DMD is approximately 6 per 100,000 individuals.19-21 · Patients with DMD and their clinicians do have a number of therapies available to them, though none yet are curative. Amyotrophic lateral sclerosis (ALS), commonly referred to as Lou Gehrig’s disease, is a progressive neurodegenerative disease affecting nerve cells in the brain and spinal cord, leading to loss of muscle control.24 Experts have yet to identify the underlying cause of ALS, but the condition is inherited in roughly 10% of cases and begins with muscle twitching and weakness, and/or slurred speech. According to the Rare Disease Database, ALS affects 1.5 to 3 per 100,000 people per year in North America and Europe, with an estimated 5000 new diagnoses each year and approximately 30,000 patients currently affected in the US.25 Several clinical trials are ongoing in ALS, including a Compassionate Use Clinical Trial recently initiated by Zhittya Genesis Medicine to evaluate its proprietary FGF-1 biological drug with an intranasal delivery device.26 ZZ Biotech has a phase 2 trial (NCT05039258) underway to evaluate 3K3A-APC, a genetically engineered variant of human active protein C that previously saw success in acute ischemic stroke, and Amylyx Pharmaceuticals has begun patient dosing in the phase 3 PHOENIX study (NCT05021536) evaluating AMX0035, an investigational combination agent for patients with ALS.27,28 ... Pom

Original title: “Rare Disease Day: Updates on Rare Neurological Diseases | NeurologyLive - Clinical Neurology News and Neurology Expert Insights”

We speak to Romain Alderweireldt and Carlotta Emili about the posters and work they showcased at our conference in Prague. The post Practical solutions for real challenges: our ECRD 2026 Poster Pitch winners appeared first on EURORDIS-Rare Diseases Europe.

Original title: “Practical solutions for real challenges: our ECRD 2026 Poster Pitch winners”

We speak to Carlotta Emili about her proposed not-for-profit model to keep ultra-rare treatments within reach. The post Keeping ultra-rare gene therapies available appeared first on EURORDIS-Rare Diseases Europe.

Original title: “Keeping ultra-rare gene therapies available”

Inspired by his family’s experience, Romain Alderweireldt developed a patient-led platform enabling remote, safe and active participation in genomic research. The post GEMS-App and the search for answers in Marfan syndrome appeared first on EURORDIS-Rare Diseases Europe.

Original title: “GEMS-App and the search for answers in Marfan syndrome”

This podcast explores how leading Alzheimer’s experts are working to bridge the gap between clinical trial design and frontline care.

Original title: “[Podcast] (Season 2) The Progress Profile: Alzheimer’s Research in Focus”

While biopharma’s overarching mission is to develop innovative medicines to improve patient outcomes, for these six people, the motivation came from much closer to home.

Original title: “6 times when drug development got personal”