Clinical trials: 22q13 Deletion Syndrome
Phelan McDermid Syndrome
Growth Hormone Treatment in Children With Phelan McDermid Syndrome
Phelan McDermid syndrome (PMS) is a rare genetic form of autism spectrum disorder (ASD) due to deletions or mutations in the SHANK3 gene.
- Trial name
- NCT04003207
- Testing
- Recombinant human Growth hormone
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Swathi Sethuram
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
Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
This is a pilot study examining the efficacy, safety and tolerability of intranasal oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS).
- Trial name
- NCT02710084
- Testing
- Oxytocin, Saline
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Alexander Kolevzon
Phelan-McDermid Syndrome, Autism Spectrum Disorder
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments.
- Conditions
- Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
- Trial name
- NCT02461420
- Where
- 5 sites in United States
- Volunteers
- 207 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Phelan-McDermid Syndrome, Autism Spectrum Disorder (ASD)
A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism
This clinical trial will use growth hormone as a novel treatment for Phelan-McDermid syndrome (PMS) and idiopathic autism. A double-blind, placebo-controlled crossover trial design will be used in 30 children with idiopathic…
- Trial name
- NCT05187377
- Testing
- Growth Hormone, Saline
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Phelan-McDermid Syndrome
An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Phelan-McDermid Syndrome.
- Trial name
- PMS-001 (NCT05025241)
- Testing
- NNZ-2591
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Neuren Pharmaceuticals Limited
Phelan-McDermid Syndrome, SHANK3 Haploinsufficiency
RB001 Gene Therapy Study in Children With SHANK3-related Phelan-McDermid Syndrome (PMS)
This is an open-label, dose-escalation study to evaluate the safety, tolerability, and clinical activity of a single dose of RB001 administered via intracerebroventricular (ICV) injection in pediatric with SHANK3 related…
- Trial name
- NCT07014020
- Testing
- RB001
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Peking University First Hospital
Phelan-McDermid Syndrome, Growth Hormone Treatment
Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS
In summary, this piot study with 6 participants shown that recombinant human growth hormone (rhGH) has a positive effect on the treatment with PMS.
- Trial name
- NCT05105685
- Testing
- recombinant human growth hormone, Saline
- Where
- China
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Affiliated Hospital of Jiangnan University
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
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
Autism Spectrum Disorder
Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
There is currently no treatment for the body symptoms of Autism Spectrum Disorders (ASD). However, basic research suggests that some forms of ASD may be alleviated, even in the adult stage.
- Trial name
- Lisphem (NCT04623398)
- Testing
- Lithium Carbonate
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
22q13 Deletion Syndrome, Phelan-McDermid Syndrome
Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
The purpose of this study is to pilot the use of Insulin-Like Growth Factor-1 (IGF-1) treatment in 22q13 Deletion Syndrome (Phelan-McDermid Syndrome) caused by SHANK3 gene deficiency in order to evaluate safety, tolerability, and…
- Trial name
- NCT01525901
- Testing
- Insulin-Like Growth Factor-1 (IGF-1), Normal saline
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Autism Spectrum Disorder, Phelan-McDermid Syndrome
Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome.
This double-blind, cross-over, randomized, controlled trial (RCT) has the aim of evaluating the effectiveness of a metabolic support therapy in two cohorts of patients with idiopathic Autism Spectrum Disorder or Phelan-McDermid…
- Trial name
- Q10ASD (NCT04312152)
- Testing
- Q10 Ubiquinol, Vitamin E, Multi-Vitamin B complex
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Antonio Persico
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
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals…
- Conditions
- Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome
- Trial name
- NCT06139172
- Testing
- Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- Rush University Medical Center
Phelan-McDermid Syndrome, Autism Spectrum Disorder
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes.
- Conditions
- Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
- Trial name
- NCT03426059
- Testing
- No Intervention
- Where
- 6 sites in United States
- Volunteers
- 24 people
- Sponsor
- Boston Children's Hospital
Phelan-McDermid Syndrome
Mitochondrial Dysfunction in Phelan-McDermid Syndrome
The purpose of this study is to determine whether a relationship exists between gene deletion(s) specific to the mitochondrial electron transport chain and presentation of clinical characteristics in patients with Phelan-McDermid…
- Trial name
- NCT02000167
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- University of Arkansas
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
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, Epilepsy
AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
The purpose of this study is to investigate the safety, tolerability and efficacy of a single 6-hour intravenous infusion of AMO-01 to treat adolescents and adults with PMS and co-morbid epilepsy.
- Trial name
- NCT03493607
- Testing
- AMO-01
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Alexander Kolevzon