Status:
COMPLETED
A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism
Lead Sponsor:
Icahn School of Medicine at Mount Sinai
Collaborating Sponsors:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Phelan-McDermid Syndrome
Autism Spectrum Disorder (ASD)
Eligibility:
All Genders
2-12 years
Phase:
PHASE2
Brief Summary
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 ...
Detailed Description
This study will show that select electrophysiological markers in PMS are relevant to iASD and predictive of treatment response with growth hormone. The long-term goal is to optimize treatment selectio...
Eligibility Criteria
Inclusion
- Children between 2 and 12 years of age
- Open epiphyses on bone age x ray
- Must be on stable medication and psychosocial treatment regimens for at least three months prior to enrollment, assuming the concomitant medication is safe for use with Growth Hormone
- No prior use of Growth Hormone or IGF-1
- ASD group: Meet DSM-5 criteria for Autism Spectrum Disorder confirmed by the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2); absence of known pathogenic copy number variants
- PMS group: Known pathogenic deletions or mutations in SHANK3 gene diagnosed by array CGH and/or direct sequencing
Exclusion
- Closed epiphyses
- Active or suspected neoplasia
- Intracranial hypertension
- Hepatic insufficiency
- Renal insufficiency
- Cardiomegaly/valvulopathy
- History of allergy to growth hormone or any component of the formulation (mecasermin)
- Patients with comorbid conditions who are deemed too medically compromised to tolerate the risk of experimental treatment with growth hormone (including severe obesity, sleep apnea, and various acute health conditions)
- Visual problems that preclude the use of VEP
Key Trial Info
Start Date :
January 19 2022
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
February 5 2025
Estimated Enrollment :
32 Patients enrolled
Trial Details
Trial ID
NCT05187377
Start Date
January 19 2022
End Date
February 5 2025
Last Update
April 20 2025
Active Locations (1)
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1
Seaver Autism Center for Research & Treatment
New York, New York, United States, 10029