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.
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.
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.
Because funding for rare diseases like Phelan-McDermid syndrome is extremely limited, we provide critical research grants to scientists throughout their careers to better understand Phelan-McDermid syndrome and identify new potential drugs. To date, we’ve committed more than $1 million in promising research to uncover answers and speed progress.
To accelerate Phelan-McDermid syndrome research progress, scientists must understand if therapy development in the laboratory will apply to humans. They must also understand what it’s like to live with this genetic condition so they can refine treatments. To do this, they need data and samples from people with Phelan-McDermid syndrome. As the largest Phelan-McDermid syndrome community in the world, we work closely with families to collect critical data that helps researchers and drug developers advance clinical trials.
Once a drug shows promise, many barriers can affect its success in clinical trials. We work to overcome obstacles by supporting centers of excellence with expertise running Phelan-McDermid syndrome clinical trials, developing assessments to accurately measure clinical trial outcomes, promoting patient participation, and advocating for families with the FDA and other critical groups.
We actively build relationships and work closely with drug developers to encourage those with promising technologies to add Phelan-McDermid syndrome drugs to their pipeline. We support industry partners by providing essential data, connecting them with key opinion leaders and elevating the patient voice. We also communicate the most current approaches to families.
As we drive progress toward treatments and cures, we work actively to deliver answers that improve daily life now. To help families manage the everyday challenges and symptoms of Phelan-McDermid syndrome, We fund research, spearhead the development of clinical guidelines and bring top medical experts together to offer guidance to make everyday life easier.Medical Issues & Clinical Care
Because funding for rare diseases like Phelan-McDermid syndrome is extremely limited, we provide critical research grants to scientists throughout their careers to better understand Phelan-McDermid syndrome and identify new potential drugs. To date, we’ve committed more than $1 million in promising research to uncover answers and speed progress.
To accelerate Phelan-McDermid syndrome research progress, scientists must understand if therapy development in the laboratory will apply to humans. They must also understand what it’s like to live with this genetic condition so they can refine treatments. To do this, they need data and samples from people with Phelan-McDermid syndrome. As the largest Phelan-McDermid syndrome community in the world, we work closely with families to collect critical data that helps researchers and drug developers advance clinical trials.
Once a drug shows promise, many barriers can affect its success in clinical trials. We work to overcome obstacles by supporting centers of excellence with expertise running Phelan-McDermid syndrome clinical trials, developing assessments to accurately measure clinical trial outcomes, promoting patient participation, and advocating for families with the FDA and other critical groups.
We actively build relationships and work closely with drug developers to encourage those with promising technologies to add Phelan-McDermid syndrome drugs to their pipeline. We support industry partners by providing essential data, connecting them with key opinion leaders and elevating the patient voice. We also communicate the most current approaches to families.
As we drive progress toward treatments and cures, we work actively to deliver answers that improve daily life now. To help families manage the everyday challenges and symptoms of Phelan-McDermid syndrome, We fund research, spearhead the development of clinical guidelines and bring top medical experts together to offer guidance to make everyday life easier.
Medical Issues & Clinical Care
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.
Families living with Phelan-McDermid syndrome are essential partners in driving Phelan-McDermid syndrome research breakthroughs faster.
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.
From new research updates to family gatherings and everything in between, see the latest news and updates about Phelan-McDermid syndrome.
We have breaking news! Jaguar Gene Therapy has received approval from the FDA to conduct a gene therapy clinical trial in Phelan-McDermid syndrome.
This is a major milestone for our community and for drug development in Phelan-McDermid syndrome! This will be the first trial aiming to target genetic underpinnings of Phelan-McDermid syndrome.
*last updated on 2/5/24* Development of Caregiver-Reported Outcome Measure for Neurodevelopmental Disorders (NDD) Research team: Chad Heatwole, MD, MS-CI, University
A large percentage (~75-80%) of people with a Phelan-McDermid syndrome diagnosis also have a diagnosis of autism spectrum disorder. This
Convos with Dr. Kate is our weekly podcast focused exclusively on research news and updates. Presented by Dr. Kate Still, the Phelan-McDermid Syndrome Foundation’s scientific director, 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.
All scientific and medical content from the Phelan-McDermid Syndrome Foundation is carefully created and/or reviewed by Kate Still, Ph.D., scientific director for the Phelan-McDermid Syndrome Foundation, chair of its Scientific Advisory Committee and principal investigator for the PMS DataHub. She works 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.
