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Phelan-McDermid Syndrome clinical trials

View clinical trials related to Phelan-McDermid Syndrome.

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NCT ID: NCT05187377 Enrolling by invitation - Clinical trials for Autism Spectrum Disorder (ASD)

A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism

Start date: January 19, 2022
Phase: Phase 2
Study type: Interventional

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 autism and 15 children with PMS to evaluate the the effects of growth hormone on visual evoked potentials (VEPs), socialization, language, and repetitive behaviors. The researchers expect to provide evidence for the feasibility of using VEPs in PMS, and to show support for growth hormone in ameliorating clinical symptoms of ASD.

NCT ID: NCT05105685 Completed - Clinical trials for Growth Hormone Treatment

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Start date: June 14, 2020
Phase: Phase 1/Phase 2
Study type: Interventional

In summary, this piot study with 6 participants shown that recombinant human growth hormone (rhGH) has a positive effect on the treatment with PMS. In addition, This study indicated that rhGH can improve PMS symptoms via increase the level of serum insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3). RhGH may be low cost, more accessible, alternative treatment for PMS.

NCT ID: NCT05025241 Active, not recruiting - Clinical trials for Phelan-McDermid Syndrome

An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)

PMS-001
Start date: August 8, 2022
Phase: Phase 2
Study type: Interventional

A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Phelan-McDermid Syndrome.

NCT ID: NCT04312152 Enrolling by invitation - Clinical trials for Autism Spectrum Disorder

Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome.

Q10ASD
Start date: March 9, 2019
Phase: N/A
Study type: Interventional

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 syndrome, commonly associated with syndromic autism. Each patient will receive Q10 ubiquinol + Vit. E and B for 4 months and only Vit. E and B for 4 months in a double-blind, cross-over design. Primary outcome measures of efficacy include Vineland Adaptive Behavior Scales, Childhood Autism Rating Scale, Clinical Global Impression-Improvement and Visual Analog Scales; secondary outcome measures include several questionnaires and tests of autism, cognitive function, problem behaviors, quality of life, communication and comorbid disorders, as well as measures of oxidative stress.

NCT ID: NCT04003207 Completed - Clinical trials for Phelan McDermid Syndrome

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

Start date: September 13, 2019
Phase: Phase 2
Study type: Interventional

Phelan McDermid syndrome (PMS) is a rare genetic form of autism spectrum disorder (ASD) due to deletions or mutations in the SHANK3 gene. This is a pilot open labeled trial of growth hormone therapy in children with PMS targeting social withdrawal and repetitive behavior. This research study will include children with PMS between 2-12 years of age who will receive growth hormone daily for 12 weeks, if found to be eligible. The aim of this study is to evaluate the effect of growth hormone on behavioral outcomes such as the aberrant behavior checklist social withdrawal subscale (ABC-SW) and repetitive behavior scale- revised (RBS-R). The effects of growth hormone on visual evoked potentials will also be assessed. Growth hormone increases insulin like growth factor 1 (IGF-1) levels and a previous trial of IGF-1 therapy in PMS children showed improvement in these behavioral scales. Growth hormone has been studied for decades with an excellent safety profile and fewer adverse effects compared to IGF-1 therapy in other conditions. Hence, this may be a viable therapeutic option. There is no treatment currently available for PMS and this trial is therefore extremely important.

NCT ID: NCT03836300 Enrolling by invitation - Clinical trials for Duchenne Muscular Dystrophy

Parent and Infant Inter(X)Action Intervention (PIXI)

Start date: November 30, 2018
Phase: N/A
Study type: Interventional

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 intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.

NCT ID: NCT03493607 Completed - Epilepsy Clinical Trials

AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

Start date: May 30, 2018
Phase: Phase 2
Study type: Interventional

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. Phelan-McDermid Syndrome (PMS) is a neurodevelopmental disorder characterized by a chromosomal deletion or mutation at 22q13.3 that contains the SHANK3/ProSAP2 gene. A key co-morbidity in PMS is the presence of epilepsy. Currently there are no approved treatments for PMS. Furthermore, there has been relatively little clinical study of pharmacological interventions for PMS. AMO-01 may provide benefit to PMS patients exhibiting behavioral abnormalities and seizures.

NCT ID: NCT03426059 Completed - Clinical trials for Autism Spectrum Disorder

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Start date: May 22, 2018
Phase:
Study type: Observational

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. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.

NCT ID: NCT02710084 Completed - Clinical trials for Phelan-McDermid Syndrome

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Start date: April 29, 2016
Phase: Phase 2
Study type: Interventional

This is a pilot study examining the efficacy, safety and tolerability of intranasal oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS). This study will utilize a randomized, placebo-controlled design for 12 weeks (phase 1), followed by an open-label extension for 12 weeks (phase 2). The purpose is to evaluate the effect of intranasal oxytocin on impairments in attention, social memory, socialization, language, and repetitive behaviors.

NCT ID: NCT02461420 Recruiting - Clinical trials for Autism Spectrum Disorder

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Start date: May 2015
Phase:
Study type: Observational

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. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.