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Growth Hormone Treatment in Children With Phelan McDermid Syndrome

NCT04003207 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 6

Last updated 2024-05-02

Study results available
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Summary

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.

Conditions

  • Phelan McDermid Syndrome

Interventions

DRUG

Recombinant human Growth hormone

Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.

Sponsors & Collaborators

  • Swathi Sethuram

    lead OTHER

Principal Investigators

  • Swathi Sethuram, MD · Icahn School of Medicine at Mount Sinai

  • Alexander Kolevzon, MD · Icahn School of Medicine at Mount Sinai

  • Robert Rapaport, MD · Icahn School of Medicine at Mount Sinai

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Max Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-09-13
Primary Completion
2020-06-05
Completion
2020-06-05
FDA Drug
Yes

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04003207 on ClinicalTrials.gov