September has been a rough month already for Novo Nordisk, which canned two more late-stage trials of its embattled IL-6 inhibitor, and Novartis, which took Phase 3 hits in both cardiovascular and muscular dystrophy indications; Ultragenyx’s big bet in Angelman syndrome failed to yield benefit in Phase 3 but Ionis’ Pharmaceuticals nabbed the first targeted approval for Alexander disease; and on the business side, biopharma investment is back in a big way.

Original title: “Novo’s canned heart disease trials, Novartis’ clinical fails, first approval for Alexander disease”

The failure of what was once considered a potential blockbuster therapy represents a major setback in a tough-to-treat disease and is forcing Ultragenyx to closely examine its expenses.

Original title: “Ultragenyx to weigh ‘significant’ cost cuts as Angelman drug fails key study”

The success of apazunersen in a Phase 3 trial for Angelman syndrome was a key driver of Ultragenyx’s value, according to William Blair, and the asset’s failure robs the biotech of any meaningful near-term milestones.

Original title: “Ultragenyx’s 'high-risk' Angelman bet fails, cratering stock and forcing strategic review”

Through the rare disease clinic, Ginsberg helped perform several tests on Beth Synk’s daughter, Imogen “Immy” Synk, to confirm a diagnosis of Angelman syndrome, which is a rare neurogenetic condition that leads to neurodevelopmental disabilities. Synk worked with Ginsberg to help make Akron Children’s a site for phase 3 of Ultragenyx’s GTX-102 investigational antisense oligonucleotide therapy clinical trial... New York native Dr. Matthew Ginsburg shares his journey in medicine. In February, the Synks hosted a fundraiser and raised over $34,000 for the Foundation for Angelman Syndrome Therapeutics. Synk is thankful for Ginsberg. “The fact that he took the initiative and brought the trial here, it’s been tremendous for our family, but I know it will be a big deal for many families in the area,” she says. It’s families like the Synks who help inspire Ginsberg to keep pushing for rare disease treatments. “That was really a product of a family here, whose daughter has Alexander disease, which is a rare brain condition that causes sort of progressive deterioration over time,” he says. “In addition to being very instrumental in helping to fund and support the first disease-modifying therapy, they also made a charitable donation to the hospital to establish this chair and the clinic.” · An Akron Children’s patient, the Pearsons’ daughter participated in a trial at the Children’s Hospital of Philadelphia for zilganersen, an Ionis Pharmaceuticals medicine that is now before the FDA for approval. But, while at college, Ginsberg met pre-med students and worked as a respite staffer caring for a child with autism, which redirected his career pathway. “I felt like it was more important, meaningful and impactful,” Ginsberg says of medicine. He studied at the Cleveland Clinic Lerner College of Medicine at Case Western Reserve University, choosing pediatric neurology as his residency after medical school.

Original title: “Hope for the Future: Akron Children's Doctor Brings Hope for Rare Diseases - Akron Life Magazine: Akron Ohio, Restaurants and Entertainment”

The Biotech Consortium to Accelerate ... therapies for serious neurological and rare diseases, including amyotrophic lateral sclerosis, frontotemporal dementia, Angelman syndrome, and Duchenne muscular dystrophy. BCAI's mission is to keep American clinical trials in the U.S., ... The Biotech Consortium to Accelerate Innovation (BCAI) unites more than a dozen innovative biotechnology companies developing transformative therapies for serious neurological and rare diseases, including amyotrophic lateral sclerosis, frontotemporal dementia, Angelman syndrome, and Duchenne muscular dystrophy. BCAI's mission is to keep American clinical trials in the U.S., so American patients have the earliest possible access to U.S.-developed medical innovation. CAMBRIDGE, Mass.--(BUSINESS WIRE)--A new survey reveals that U.S. biotechnology companies focused on developing treatments for rare and serious diseases overwhelmingly prefer to conduct first-in-human (FIH) clinical trials in the United States. However, historical obstacles posed by the U.S. Through strategic cost-saving initiatives, robust business partnerships, educational and networking opportunities, and proactive advocacy, MassBio empowers its members to launch the next generation of medical advancements to deliver the cures and therapies that enhance patient lives. ... 1U.S. Food and Drug Administration. Estimating the Maximum Safe Starting Dose in Initial Clinical Trials for Therapeutics in Adult Healthy Volunteers: Guidance for Industry. Instead, they are asking the FDA to implement the 10x safety margin as outlined in the Agency’s own 2005 guidance, Estimating the Maximum Safe Starting Dose in Initial Clinical Trials1. Restore predictable review timelines that reduce costly holds and rework. Strengthen sponsor-reviewer communication so trial design is driven by science, not procedural ambiguity. Ensure better alignment of review criteria with disease severity and life expectancy.

Original title: “New Survey Finds U.S. Biotechs Advancing Treatments for Rare and Serious Diseases Want to Run Clinical Trials in U.S. but Regulatory Hurdles are Sending Them Abroad”

Oak Hill Bio is developing the antisense therapy rugonersen, which it licensed from Roche in 2025, for Angelman syndrome.

Original title: “Oak Hill takes SPAC track to Nasdaq with Roche asset in tow”

cortical hyperexcitability shapes large scale brain dynamics and behavioral outcome in angelman syndrome

Original title: “Cortical Hyperexcitability Shapes Large-Scale Brain Dynamics and Behavioral Outcome in Angelman Syndrome.”