NCT01525901

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

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
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 19 (actual)
• Sponsor: Icahn School of Medicine at Mount Sinai · Academic / Other
• Sex: All
• Age: 5 Years – 12 Years
• Healthy volunteers: Not accepted

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

Conditions

• 22q13 Deletion Syndrome
• Phelan-McDermid Syndrome

Interventions

Type	Name	Description
DRUG	Insulin-Like Growth Factor-1 (IGF-1)	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.
DRUG	Normal saline	Saline solution will be administered for three months subcutaneously.

Timeline

• Start date: 2012-02-01
• Primary completion: 2016-08-23
• Completion: 2016-08-23
• First posted: 2012-02-03
• Last updated: 2022-05-12
• Results posted: 2022-05-12

Locations

1 site across 1 country: United States