Driving Research Breakthroughs for Phelan-McDermid Syndrome

Speeding the Pace of Progress to Deliver Treatment and Cures

Because “someday” is too far away when you’re living or caring for someone with Phelan-McDermid syndrome, we work every minute of every day to speed the pace of research progress to deliver treatments and cures faster.

Help for Today. Answers for Tomorrow.

At the Phelan-McDermid Syndrome Foundation, our research program is two-fold: We focus on identifying solutions to help families manage the many symptoms of Phelan-McDermid syndrome today while simultaneously investing in research to uncover treatments and cures for a brighter tomorrow.

Strategic Research Priorities

Developed In partnership with our scientific advisory committee, we have five Phelan-McDermid syndrome research priorities to make today better and the future brighter for everyone living with this life-altering condition. Working closely with scientists, medical experts, academic institutions, pharmaceutical companies, other patient advocacy organizations and families, we’ll drive research breakthroughs to deliver treatments and cures faster.

An expert group also focuses specifically on neuropsychiatric illness and regression in Phelan-McDermid syndrome. These experts help manage neuropsychiatric symptoms, research their occurrence, and suggest treatment guidelines.

See Neuropsychiatric Clinical Guidelines

Phelan-McDermid Syndrome
Research Progress

Families Are Partners In Research

Families living with Phelan-McDermid syndrome are essential partners in driving Phelan-McDermid syndrome research breakthroughs faster.

Image

Significant steps forward are happening every day in Phelan-McDermid syndrome research, giving families real hope for treatments, and eventually, cures. We expect to see more effective clinical trials than ever before.

Clinical Trials

There are 4 important ways you can participate in research now:

Enroll in a Currently Open Research Study

Enroll now

Enroll in the Phelan-McDermid Syndrome DataHub

Enroll now

Enroll in a Clinical Trial

Enroll now

Donate

Donate Now

Quick Links:

Potential Blood-Based Biomarkers of Phelan-McDermid Syndrome

Researchers at Ulm University in Germany have identified two promising blood-based biomarkers for Phelan-McDermid syndrome, including SHANK3 protein and beta-synuclein. In a pilot study of 23 individuals with Phelan-McDermid syndrome, lower SHANK3 levels and higher beta-synuclein levels were found compared to typically-developing controls. Individuals with Phelan-McDermid syndrome who had a history of regression had lower SHANK3 levels, and those with more significant language impairments had higher beta-synuclein levels. These findings also were observed in a Shank3 mouse model. Together, this suggests SHANK3 and beta-synuclein may be potential blood-based biomarkers in Phelan-McDermid syndrome. Although larger studies are needed to confirm the results, this research marks an important step toward identifying objective biological-based measures that may relate to disease severity and help monitor progression and evaluate treatment effectiveness.

Read More »
June 8, 2026
Read More Research News
Get Research News Delivered to Your Inbox
ConvosWithKate_WebSafeRGB

Listen to Our Research Podcast

“Convos with Dr. Kate” is our podcast focused exclusively on research news and updates. Presented by Dr. Kate Still, you’ll learn everything you need to know about research progress and updates in an interactive way that’s easy to understand.

Tune in anywhere you listen to podcasts.

Image
Image
Image

All scientific and medical content from the Phelan-McDermid Syndrome Foundation is carefully created and/or reviewed by Lauren Schmitt, Ph.D., working closely with members of the organization’s medical and scientific advisory committees to bring families and medical professionals the information they need in a way they can understand and act on it.