This trial has been completed.

Conditions 22q13 deletion syndrome, phelan-mcdermid syndrome
Treatments insulin-like growth factor-1 (igf-1), normal saline
Phase phase 2
Sponsor Icahn School of Medicine at Mount Sinai
Collaborator National Institute of Mental Health (NIMH)
Start date February 2012
End date September 2016
Trial size 20 participants
Trial identifier NCT01525901, 1R34MH100276-01, GCO 11-1555, GCO 12-0929, IF# 1358648, R34MH100276


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Allocation randomized
Endpoint classification safety/efficacy study
Intervention model crossover assignment
Masking double blind (subject, caregiver, investigator, outcomes assessor)
Primary purpose treatment
insulin-like growth factor-1 (igf-1) Mecasermin; Increlex
IGF-1 and placebo will each be administered for 3 months with a four-week washout period in between. IGF-1 will be administered for 3 months subcutaneously.
(Placebo Comparator)
normal saline Placebo
Saline solution will be administered for three months subcutaneously.

Primary Outcomes

Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) subscale
time frame: Week 12

Secondary Outcomes

Repetitive Behavior Scale
time frame: Week 12
CGI-Improvement and Severity Scales
time frame: Week 12
Caregiver Strain Index
time frame: Week 12
Exploratory outcomes
time frame: Week 12

Eligibility Criteria

Male or female participants from 5 years up to 12 years old.

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 (<1000 grams) with associated early neo-natal complications, e.g. intra-cerebral hemorrhage, prolonged hypoxia, prolonged hypoglycemia - patients with comorbid conditions deemed too medically compromised to tolerate the risk of experimental treatment with IGF-1

Additional Information

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)
Principal investigator Alexander Kolevzon, MD
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
Trial information was received from ClinicalTrials.gov and was last updated in January 2017.
Information provided to ClinicalTrials.gov by Icahn School of Medicine at Mount Sinai.