Clinical Trial: Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
Study Status: Completed
Recruit Status: Completed
Study Type: Interventional
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 Summary:
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
Sponsor: Icahn School of Medicine at Mount Sinai
Current Primary Outcome: Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) subscale [ Time Frame: Week 12 ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
- 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 ]Expressive language, social orienting, and motor skills,
Original Secondary Outcome: Same as current
Information By: Icahn School of Medicine at Mount Sinai
Dates:
Date Received: February 1, 2012
Date Started: February 2012
Date Completion:
Last Updated: January 10, 2017
Last Verified: October 2016