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