Clinical trials: Phelan-McDermid Syndrome, open to volunteers
SHANK3 Haploinsufficiency, Phelan-McDermid Syndrome
Long-Term Follow-Up Study for RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)
This is a long-term follow-up study of participants in the RB001-101 gene replacement therapy clinical trial for Children With SHANK3-related Phelan-McDermid Syndrome (PMS).
- Trial name
- RB001-101-LTFU (NCT07690527)
- Testing
- RB001
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Peking University First Hospital
SHANK3 Haploinsufficiency, Phelan-McDermid Syndrome
JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
This is a Phase 1/2, first in human, open-label, dose-escalation study to evaluate the safety, tolerability, and clinical activity of a single dose of JAG201 administered via intracerebroventricular (ICV) injection in pediatric…
- Trial name
- NCT06662188
- Testing
- JAG201
- Where
- 3 sites in United States
- Volunteers
- 6 people
- Sponsor
- Jaguar Gene Therapy, LLC
Phelan-McDermid Syndrome
A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
This Phase 3, randomized, double-blind, parallel-group (2-arm), placebo-controlled, multicenter study will evaluate the efficacy and safety of NNZ-2591 compared to placebo in pediatric participants with Phelan- McDermid Syndrome.
- Trial name
- NCT07281079
- Testing
- NNZ-2591
- Where
- 18 sites in United States, Canada
- Volunteers
- 160 people
- Sponsor
- Neuren Pharmaceuticals Limited
Phelan-McDermid Syndrome
An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
This Phase 3, open-label extension, multicenter study will evaluate long-term safety, tolerability and efficacy of NNZ-2591 in pediatric participants with Phelan- McDermid Syndrome.
- Trial name
- NCT07593391
- Testing
- NNZ-2591
- Where
- 11 sites in United States
- Volunteers
- 180 people
- Sponsor
- Neuren Pharmaceuticals Limited
Genetic Disease
Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder with extensive clinical and genetic heterogeneity that is still poorly understood.
- Trial name
- EUQ13 (NCT07119606)
- Testing
- SHANK3 mutation
- Where
- France
- Volunteers
- 650 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International