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.
Explore recent advances and setbacks in rare disease treatments, what they mean for Phelan-McDermid syndrome, and how PMSF is advancing research, clinical trials, and future therapies.
Phelan-McDermid syndrome is a rare genetic condition usually caused by a deletion or structural change at the end of chromosome 22, in a region called 22q13. Symptoms and severity can vary widely among people with Phelan-McDermid syndrome. For individuals with a chromosome 22 deletion, the size of the deletion may help explain some of these clinical differences. In general, larger 22q13 deletions are associated with more significant developmental delays and medical concerns. A recent study in 63 people with Phelan-McDermid syndrome further explored these genotype-phenotype relationships, helping researchers better understand how chromosome 22 deletion size may influence symptoms such as language development, motor function and development, and social behaviors as well as medical issues. This study also identified several candidate genes that could also be contributing to the symptoms seen in 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.
“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.
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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.
