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

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Disease Information

Descriptive Information
Brief Title † Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
Official Title † A Double-Blind Placebo-Controlled Crossover Trial of Insulin-Like Growth Factor-1 (IGF-1) in Children and Adolescents With 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
Brief Summary 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.
Detailed Description Overall, there will be 1-3 screening visits, a baseline visit where study drug will first be administered, and then 10 follow-up visits. Follow-up visits will occur at week 2, week 4, week 8, and week 12 in each treatment phase (IGF-1 or placebo), and then again 4 weeks after study completion, Parents/guardians will be asked to administer the IGF-1/ placebo by injection at home and will also be responsible for monitoring glucose levels in the child. Parents/guardians will be trained in these methods, and will have scheduled phone calls and appointments where the dose and tolerability will be discussed. Assessments include the following: - Physical and neurological examination - Medical and psychiatric history - X-ray of long bone (e.g., hand) to ensure your child's growth plates are not closed - Electrocardiography - Echocardiography - Pregnancy test if applicable - Lab safety measures (through blood draw) - Autism Diagnostic Interview (ADI) - Autism Diagnostic Observation Schedule (ADOS) - The Mullen Scales of Early Learning or the Leiter International Performance Scale-Revised - Vineland Adaptive Behavior Scale (VABS) - Clinical Global Impressions (CGI) Rating Scales - The Repetitive Behaviors Scale (RBS) - Aberrant Behavior Checklist (ABC) - The Caregiver Strain Questionnaire (CSI) - Language Environment Analysis (LENA) - The Macarthur-Bates Communication Inventory (MCDI) - Unified Parkinson's Disease Rating Scale (UPDRS) - Quick Neurological Screening Test 2nd Edition (QNST-2) - Gait Analysis with motion capture video systems and interactive 3-dimensional modeling systems
Study Phase Phase 2
Study Type † Interventional
Study Design † Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Crossover Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
Primary Outcome Measure † Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) subscale
Secondary Outcome Measure † Repetitive Behavior Scale
Condition † 22q13 Deletion Syndrome Phelan-McDermid Syndrome
Intervention † DrugInsulin-Like Growth Factor-1 (IGF-1)
Study Arms / Comparison Groups Insulin-Like Growth Factor-1 (IGF-1) Injection Normal saline Injection
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status † Drug
Estimated Enrollment † 20
Start Date † February 2012
Completion Date September 2016
Primary Completion Date September 2016
Eligibility Criteria † Inclusion Criteria: - 5 to 12 years old - pathogenic deletions or mutations of the SHANK3 gene - stable medication regimens for at least three months prior to enrollment Exclusion Criteria: - closed epiphyses - active or suspected neoplasia - intracranial hypertension - hepatic insufficiency - renal insufficiency - cardiomegaly / valvulopathy - history of allergy to IGF-1 or any component of the formulation (mecasermin) - history of extreme prematurity (
Gender All
Ages 5 Years - 12 Years
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT01525901
Organization ID GCO 12-0929
Secondary IDs †† IF# 1358648, 1R34MH100276-01, GCO 11-1555, R34MH100276
Responsible Party Principal Investigator
Study Sponsor † Icahn School of Medicine at Mount Sinai
Collaborators †† National Institute of Mental Health (NIMH)
Investigators † Principal Investigator: Alexander Kolevzon, MD, Icahn School of Medicine at Mount Sinai
Information Provided By
Verification Date October 2016
First Received Date † February 1, 2012
Last Updated Date January 10, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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