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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: 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: 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.