Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
This study is currently recruiting participants.
Verified June 2013 by Mount Sinai School of Medicine
Sponsor:
Mount Sinai School of Medicine
Information provided by (Responsible Party):
Alexander Kolevzon, Mount Sinai School of Medicine
ClinicalTrials.gov Identifier:
NCT01525901
First received: February 1, 2012
Last updated: June 7, 2013
Last verified: June 2013
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Purpose
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 | Intervention | Phase |
|---|---|---|
|
22q13 Deletion Syndrome Phelan-McDermid Syndrome |
Drug: Insulin-Like Growth Factor-1 (IGF-1) Drug: Normal saline |
Phase 2 |
| Study Type: | Interventional |
| Study Design: | Allocation: Randomized Endpoint Classification: Safety/Efficacy Study Intervention Model: Crossover Assignment Masking: Double Blind (Subject, Caregiver, 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) |
Resource links provided by NLM:
MedlinePlus related topics:
Diabetes Medicines
Drug Information available for:
Insulin human
Insulin-like growth factor I
Mecasermin
Mecasermin rinfabate
U.S. FDA Resources
Further study details as provided by Mount Sinai School of Medicine:
Primary Outcome Measures:
- Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) subscale [ Time Frame: Week 12 ] [ Designated as safety issue: No ]
Secondary Outcome Measures:
- Repetitive Behavior Scale [ Time Frame: Week 12 ] [ Designated as safety issue: No ]
- CGI-Improvement and Severity Scales [ Time Frame: Week 12 ] [ Designated as safety issue: No ]
- Caregiver Strain Index [ Time Frame: Week 12 ] [ Designated as safety issue: No ]
- Exploratory outcomes [ Time Frame: Week 12 ] [ Designated as safety issue: No ]Expressive language, social orienting, and motor skills,
| Estimated Enrollment: | 10 |
| Study Start Date: | February 2012 |
| Estimated Study Completion Date: | March 2015 |
| Estimated Primary Completion Date: | March 2015 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
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
|
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
Eligibility| Ages Eligible for Study: | 5 Years to 17 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Criteria
Inclusion Criteria:
- 5 to 17 years old
- pathogenic deletions or mutations of the SHANK3 gene
- minimum raw score of 12 on the Aberrant Behavior Checklist-Social Withdrawal subscale (ABC-SW)
- 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; or, 9) patients with comorbid conditions deemed too medically compromised to tolerate the risk of experimental treatment with IGF-1
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01525901
Contacts
| Contact: Lauren Bush | 212-241-2826 | lauren.a.bush@mssm.edu |
Locations
| 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
Mount Sinai School of Medicine
Investigators
| Principal Investigator: | Alexander Kolevzon, MD | Icahn School of Medicine at Mount Sinai |
More Information
Additional Information:
No publications provided
| Responsible Party: | Alexander Kolevzon, Principal Investigator, Mount Sinai School of Medicine |
| ClinicalTrials.gov Identifier: | NCT01525901 History of Changes |
| Other Study ID Numbers: | GCO 11-1555, HSM# 11-02150, IF# 1358648 |
| Study First Received: | February 1, 2012 |
| Last Updated: | June 7, 2013 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Mount Sinai School of Medicine:
|
SHANK3 IGF-1 Autism |
Additional relevant MeSH terms:
|
Chromosome Deletion Chromosome Disorders Monosomy Aneuploidy Chromosome Aberrations Pathologic Processes Congenital Abnormalities Genetic Diseases, Inborn |
Mitogens Insulin Mitosis Modulators Molecular Mechanisms of Pharmacological Action Pharmacologic Actions Hypoglycemic Agents Physiological Effects of Drugs |
ClinicalTrials.gov processed this record on June 17, 2013