Press Release – Neuren Phase 2 trial shows significant improvements in Phelan-McDermid syndrome
Neuren has released a statement that the drug was found to be generally safe at the dose tested, having no serious adverse effects.
2024 Phelan-McDermid Syndrome Conference
Join us at the Radisson Blu, Mall of America in Bloomington, MN, USA, from July 17-20, 2024. This contemporary hotel offers a seamless connection to a plethora of activities within the Mall of America, ensuring comfort and convenience, including indoor walking spaces, air conditioning, and complimentary airport shuttle services.
2023-2027 PMSF Strategic Framework
As the pre-eminent global organization for families affected by the rare genetic condition Phelan-McDermid syndrome, the Foundation has positioned itself to play a leading role in patient advocacy and family support and driving research breakthroughs.
US Updated consensus guidelines on the management of Phelan–McDermid syndrome
The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide…
Voice of the Patient Report
This EL-PFDD meeting was modeled after the work of the FDA’s Patient Focused Drug Development (PFDD) initiative. PFDD is a systematic way of gathering patient perspectives on their condition and on available treatments. The information gathered at the meeting is presented in this Voice of the Patient report, a high-level summary of the perspectives generously shared by the families and caregivers of individuals living with PMS, who participated in the November 8, 2022, EL-PFDD meeting. The report also includes selected comments that were submitted through an online portal.
2023 PMSF and Developmental Synaptopathies Consortium – Neuropsychiatric Illness and Regression Fellowship
Data has emerged that a subset of individuals with Phelan-McDermid syndrome (PMS) experience devastating psychiatric symptoms, such as regression, bipolar disorder, and catatonia.
2023 PMSF Translational Research Award
We are seeking grant applications which bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments for Phelan-McDermid syndrome (PMS). Example areas of interest include but are not limited to: follow-up characterization studies to drug screens, cross-disorder clinical approaches, funding for remaining experiments before solidifying a pharmaceutical relationship, and adjustment of assessments or the development of new assessments which more accurately measure Phelan-McDermid syndrome phenotypes. Applications with clinical relevance will be preferred.
2023 PMSF Innovation Award
We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome (PMS) research. Successful proposals will open new avenues of research in the field. Applications with clinical relevance will be preferred. Applications can be focused on any topic, but areas of special interest to families include: research across other neurodevelopmental disorders, development of tools for monitoring or managing symptoms, peripheral nervous system studies, identification of new drug candidates, implication of new cell types, and understanding of genes aside from SHANK3
Understanding Clinical Research
Clinical trials are conducted to collect data to evaluate the safety and benefit (efficacy) of a new drug in development, typically…