What are antisense oligonucleotides (ASOs)?
We've been hearing about antisense oligonucleotides (ASOs) in the news as a potential therapeutic for PMS. But what are they and how do they work?
Applying for an ICD Code for Phelan-McDermid syndrome
https://youtu.be/fRDlkex2Kjg PMSF has applied to the CDC for an ICD Code for Phelan-McDermid syndrome. Our Scientific Director shares why this is…
Welcome to our new Family Support Specialist
Phelan-McDermid Syndrome Foundation is excited to announce that Carla D’Imperio, MS has accepted the position of Family Support Specialist. Join us in welcoming Carla to the team!
New clinical trial results of Insulin-like Growth Factor-1 (IGF-1) in Phelan-McDermid syndrome
Results from a study testing the safety and feasibility of using growth hormone (GH) as a treatment in children with Phelan-McDermid syndrome has just been published.
Enrollment is currently open for Phase II of the Phelan-McDermid syndrome (PMS) Natural History Study
The Natural History Study is funded by NIH and the goal is to help medical professionals study PMS and how it progresses over time. This information is essential for developing clinical guidelines, identifying research priorities, and assessing the effectiveness of the clinical intervention.
A pilot study of Growth Hormone in children with Phelan-McDermid syndrome
Results from a study testing the safety and feasibility of using growth hormone (GH) as a treatment in children with Phelan-McDermid syndrome has just been published.
PMSF Scientific Advisory Committee Revisits Definition of Phelan-McDermid Syndrome
The Phelan-McDermid Syndrome Foundation Scientific Advisory Committee has proposed a new classification system for Phelan-McDermid syndrome in an important new publication.
Phelan Lucky 2022 Is Here!
Phelan Lucky 2022 is an online campaign that takes place for a strict 22-day period—from Jan. 2, 2022, through Jan. 24, 2022! It’s also the only time of year to get your hands on the coveted “Phelan Lucky” T-shirt.
Jaguar Gene Therapy Will Target SHANK3 for Gene Therapy
JAG201 is designed to address mutation or deletion of the SHANK3 gene, a leading autism candidate gene, by delivering SHANK3 gene replacement therapy.