Jaguar Gene Therapy Community Letter & FAQ *UPDATED 11/5/24*
Jaguar has released an updated community letter and FAQ document that provides new details about the JAG201 clinical study. This resource…
Testes Genéticos de Seguimento na Síndrome de Phelan-McDermid (PMS) – Portuguese
Testes Genéticos de Seguimento na Síndrome de Phelan-McDermid (PMS)
Parâmetros de Prática Clínica para avaliação e monitorização médica na Síndrome de Phelan-McDermid – Portuguese
Este diagrama identifica as áreas de especialidades médicas que podem ser úteis na avaliação de uma pessoa diagnosticada com a Síndrome de Phelan-McDermid (PMS), as condições que podem estar presentes, os exames que podem ajudar no diagnóstico e a abordagem multidisciplinar.
Phenome‑wide profiling identifies genotype‑phenotype associations in Phelan‑McDermid syndrome
Phelan-McDermid syndrome is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results.
Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome
The primary purpose of the study is to evaluate the effect of lithium at 12 weeks (capsules dosed at 62.5mg, 125mg,…
2024 Research RFA – Translational Award
We are seeking grant applications which bridge the gap between promising pilot laboratory data and the development of new therapeutics or…
2024 Research Grant RFA – Shannon O’Boyle Memorial Grant – Neuropsychiatric Illness
The PMSF Board of Directors has established an annual research grant of $100,000 in honor of Shannon O’Boyle and to acknowledge…
2024 Research Grant RFA – Innovation Award
We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome research. Successful proposals will open new…
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.