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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01525901
Recruitment Status : Recruiting
First Posted : February 3, 2012
Last Update Posted : March 15, 2021
National Institute of Mental Health (NIMH)
Information provided by (Responsible Party):
Alexander Kolevzon, Icahn School of Medicine at Mount Sinai

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.

Condition or disease Intervention/treatment Phase
22q13 Deletion Syndrome Phelan-McDermid Syndrome Drug: Insulin-Like Growth Factor-1 (IGF-1) Drug: Normal saline Phase 2

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

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 35 participants
Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
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)
Study Start Date : February 2012
Estimated Primary Completion Date : April 2023
Estimated Study Completion Date : April 2023

Arm Intervention/treatment
Experimental: Insulin-Like Growth Factor-1 (IGF-1)
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.
Other Name: Mecasermin; Increlex

Placebo Comparator: Normal saline
Drug: Normal saline
Saline solution will be administered for three months subcutaneously.
Other Name: Placebo

Primary Outcome Measures :
  1. Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) subscale [ Time Frame: Week 12 ]

Secondary Outcome Measures :
  1. Repetitive Behavior Scale [ Time Frame: Week 12 ]
  2. CGI-Improvement and Severity Scales [ Time Frame: Week 12 ]
  3. Caregiver Strain Index [ Time Frame: Week 12 ]
  4. Exploratory outcomes [ Time Frame: Week 12 ]
    Expressive language, social orienting, and motor skills,

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 5 to 12 years old
  • pathogenic deletions or mutations of the SHANK3 gene
  • stable medication regimens for at least three months prior to enrollment

Exclusion Criteria:

  • closed epiphyses
  • active or suspected neoplasia
  • intracranial hypertension
  • hepatic insufficiency
  • renal insufficiency
  • cardiomegaly / valvulopathy
  • history of allergy to IGF-1 or any component of the formulation (mecasermin)
  • history of extreme prematurity (<1000 grams) with associated early neo-natal complications, e.g. intra-cerebral hemorrhage, prolonged hypoxia, prolonged hypoglycemia
  • patients with comorbid conditions deemed too medically compromised to tolerate the risk of experimental treatment with IGF-1

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01525901

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Contact: Hannah Grosman 212-241-7098

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United States, New York
Seaver Austin Center, Icahn School of Medicine at Mount Sinai Recruiting
New York, New York, United States, 10029
Principal Investigator: Alexander Kolevzon, MD         
Sponsors and Collaborators
Icahn School of Medicine at Mount Sinai
National Institute of Mental Health (NIMH)
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Principal Investigator: Alexander Kolevzon, MD Icahn School of Medicine at Mount Sinai
Additional Information:
Publications of Results:
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Responsible Party: Alexander Kolevzon, Principal Investigator, Icahn School of Medicine at Mount Sinai Identifier: NCT01525901    
Other Study ID Numbers: GCO 12-0929
IF# 1358648
1R34MH100276-01 ( U.S. NIH Grant/Contract )
GCO 11-1555 ( Other Identifier: Icahn School of Medicine at Mount Sinai )
R34MH100276 ( U.S. NIH Grant/Contract )
First Posted: February 3, 2012    Key Record Dates
Last Update Posted: March 15, 2021
Last Verified: March 2021
Keywords provided by Alexander Kolevzon, Icahn School of Medicine at Mount Sinai:
Additional relevant MeSH terms:
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Chromosome Disorders
Chromosome Deletion
Pathologic Processes
Chromosome Aberrations
Congenital Abnormalities
Genetic Diseases, Inborn
Physiological Effects of Drugs
Mitosis Modulators
Molecular Mechanisms of Pharmacological Action
Growth Substances