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)
5 other identifiers
interventional
19
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for phase_2
Started Feb 2012
Typical duration for phase_2
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 1, 2012
CompletedStudy Start
First participant enrolled
February 1, 2012
CompletedFirst Posted
Study publicly available on registry
February 3, 2012
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 23, 2016
CompletedStudy Completion
Last participant's last visit for all outcomes
August 23, 2016
CompletedResults Posted
Study results publicly available
May 12, 2022
CompletedMay 12, 2022
April 1, 2022
4.6 years
February 1, 2012
March 8, 2022
April 18, 2022
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1
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.
Baseline and Week 12
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2
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..
Baseline and Week 12
Secondary Outcomes (5)
Change in Repetitive Behavior Scale - Study 2
Baseline and Week 12
Change in CGI-Improvement and Severity Scales; - Study 2
Baseline and Week 12
Change in Caregiver Strain Questionnaire
Baseline and Week 12
Change in Sensory Profile (SP) - Study 2
Baseline and Week 12
Change in Short Sensory Profile (SSP) - Study 2
Baseline and 12 weeks
Study Arms (2)
Insulin-Like Growth Factor-1 (IGF-1)
EXPERIMENTALInjection
Normal saline
PLACEBO COMPARATORInjection
Interventions
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.
Saline solution will be administered for three months subcutaneously.
Eligibility Criteria
You may qualify if:
- to 12 years old
- pathogenic deletions or mutations of the SHANK3 gene
- stable medication regimens for at least three months prior to enrollment
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Seaver Austin Center, Icahn School of Medicine at Mount Sinai
New York, New York, 10029, United States
Related Publications (2)
Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD. A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Mol Autism. 2014 Dec 12;5(1):54. doi: 10.1186/2040-2392-5-54. eCollection 2014.
PMID: 25685306RESULTKolevzon A, Breen MS, Siper PM, Halpern D, Frank Y, Rieger H, Weismann J, Trelles MP, Lerman B, Rapaport R, Buxbaum JD. Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome. Mol Autism. 2022 Apr 8;13(1):17. doi: 10.1186/s13229-022-00493-7.
PMID: 35395866DERIVED
Related Links
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Limitations and Caveats
The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results.
Results Point of Contact
- Title
- Alexander Kolevzon, MD
- Organization
- Icahn School of Medicine at Mount Sinai
Study Officials
- PRINCIPAL INVESTIGATOR
Alexander Kolevzon, MD
Icahn School of Medicine at Mount Sinai
Publication Agreements
- PI is Sponsor Employee
- Yes
Study Design
- Study Type
- interventional
- Phase
- phase 2
- Allocation
- RANDOMIZED
- Masking
- QUADRUPLE
- Who Masked
- PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
- Purpose
- TREATMENT
- Intervention Model
- CROSSOVER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Principal Investigator
Study Record Dates
First Submitted
February 1, 2012
First Posted
February 3, 2012
Study Start
February 1, 2012
Primary Completion
August 23, 2016
Study Completion
August 23, 2016
Last Updated
May 12, 2022
Results First Posted
May 12, 2022
Record last verified: 2022-04