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…
About Phelan-McDermid Syndrome – One Page Summary
This one-page information sheet provides a brief overview of Phelan-McDermid syndrome, including its genetics, symptoms, treatments, and how the Phelan-McDermid Syndrome…
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.
Neuren Open-Label Study of Oral NNZ-2591
The purpose of the study is to look at the safety, tolerability, and efficacy of NNZ-2591 in the treatment of children…
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…
PMSF Neuropsychiatric Consultation Group – Case Presentation Form
Clinicians treating PMS individuals experiencing a neuropsychiatric event can use this form to reach out to the Neuropsychiatric Consultation Group. The…
Medical Advisory – Reaction to Psychiatric Medications
It has come to the attention of the PMS Medical Advisory Committee that many individuals with PMS have significant difficulty tolerating…
Understanding Clinical Research
Clinical trials are conducted to collect data to evaluate the safety and benefit (efficacy) of a new drug in development, typically…
About Phelan-McDermid Syndrome
An overview of genetic testing terms
Neuropsychiatric Pharmacological Recommendations (French)
These PMS Pharmacological Recommendations were developed by the PMS_Neuropsychiatric Consultation Group (PMS_NCG). These algorithms describe treatment suggestions for PMS individuals who have PMS who also carry a diagnosis of ADHD, Sleep Disturbance, Irritability and Aggression, Mood Cycling, and/or Catatonia.