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Phelan-McDermid Syndrome clinical trials

View clinical trials related to Phelan-McDermid Syndrome.

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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: 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: 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: NCT02000167 Completed - Clinical trials for Phelan-McDermid Syndrome

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

Start date: May 2012
Phase:
Study type: Observational

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 Syndrome (PMS).

NCT ID: NCT01525901 Completed - Clinical trials for Phelan-McDermid Syndrome

Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

Start date: February 2012
Phase: Phase 2
Study type: Interventional

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 efficacy. IGF-1 is an injection under the skin that contains human IGF-1. IGF-1 is approved by the FDA under the brand name Increlex for the treatment of children with short stature due to primary IGF-1 deficiency. It is being used off-label in the current study and is not FDA approved, nor has it yet been studied in humans for the treatment of SHANK3 deficiency.