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

Phelan-McDermid Syndrome Clinical Trial

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)

Status Completed

Clinical Trial 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.

Clinical Trial 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 ;

Related Conditions & MeSH terms

• 22q13 Deletion Syndrome
• Chromosome Deletion
• Chromosome Disorders
• Phelan-McDermid Syndrome
• Syndrome

• NCT number: NCT01525901
• Study type: Interventional
• Source: Icahn School of Medicine at Mount Sinai
• Status: Completed
• Phase: Phase 2
• Start date: February 2012
• Completion date: August 23, 2016