Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
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ClinicalTrials.gov Identifier: NCT01525901 |
Recruitment Status
:
Completed
First Posted
: February 3, 2012
Last Update Posted
: January 11, 2017
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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 |
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
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 20 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 |
Actual Primary Completion Date : | September 2016 |
Actual Study Completion Date : | September 2016 |

Arm | Intervention/treatment |
---|---|
Experimental: Insulin-Like Growth Factor-1 (IGF-1)
Injection
|
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
Injection
|
Drug: Normal saline
Saline solution will be administered for three months subcutaneously.
Other Name: Placebo
|
- Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) subscale [ Time Frame: Week 12 ]
- 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,

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
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

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 ClinicalTrials.gov identifier (NCT number): NCT01525901
United States, New York | |
Seaver Austin Center, Icahn School of Medicine at Mount Sinai | |
New York, New York, United States, 10029 |
Principal Investigator: | Alexander Kolevzon, MD | Icahn School of Medicine at Mount Sinai |
Additional Information:
Responsible Party: | Alexander Kolevzon, Principal Investigator, Icahn School of Medicine at Mount Sinai |
ClinicalTrials.gov Identifier: | NCT01525901 History of Changes |
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: | January 11, 2017 |
Last Verified: | October 2016 |
Keywords provided by Alexander Kolevzon, Icahn School of Medicine at Mount Sinai:
SHANK3 IGF-1 Autism |
Additional relevant MeSH terms:
Syndrome Chromosome Deletion Chromosome Disorders Disease Pathologic Processes Monosomy Aneuploidy Chromosome Aberrations Congenital Abnormalities Genetic Diseases, Inborn |
Insulin, Globin Zinc Insulin Mitogens Mecasermin Hypoglycemic Agents Physiological Effects of Drugs Mitosis Modulators Molecular Mechanisms of Pharmacological Action Growth Substances |