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MGF Igf-1-ec

IGF-1Ec, IGF-1Eb, Mechano-Growth Factor

Quick Stats
Studies 62
Trials 100
Completed PHASE2 INTERVENTIONAL NCT01525901

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

View on ClinicalTrials.gov Updated Dec 15, 2025

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 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

Interventions

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

Primary Outcomes

Measure: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1
TimeFrame: Baseline and Week 12
Description: 16 items on ABC-SW subscale, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score from 0 to 48 with higher score indicating poorer health outcomes.
Measure: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2
TimeFrame: Baseline and Week 12
Description: 16 items on ABC-SW subscale, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score from 0 to 48 with higher score indicating poorer health outcomes..

Trial Information

NCT ID

NCT01525901

Status

Completed

Study Type

INTERVENTIONAL

Phases

PHASE2

Sponsor

Icahn School of Medicine at Mount Sinai

Last Updated

December 15, 2025