Phase 2
N=19
Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
22q13 Deletion Syndrome · Phelan-McDermid Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT01525901 ↗Enrolled (actual)
19
Serious AEs
0.0%
Results posted
May 2022
Primary outcome: Primary: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1 — 15.78; 11.22; 7.61; 9.70 score on a scale
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Insulin-Like Growth Factor-1 (IGF-1) (Drug); Normal saline (Drug)
- Age
- Pediatric · 5+ yrs
- Sex
- All
- Sponsor
- Icahn School of Medicine at Mount Sinai
- Primary completion
- Aug 2016
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1 |
15.78; 11.22; 7.61; 9.70 | — |
| PRIMARY Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2 |
-5.5; -6.3 | — |
| SECONDARY Change in Repetitive Behavior Scale - Study 2 |
-0.3; -0.8; -0.3; 0.2; -0.8; 0.1 | — |
| SECONDARY Change in CGI-Improvement and Severity Scales; - Study 2 |
-0.2; -0.1; 2.6; 3.1 | — |
| SECONDARY Change in Caregiver Strain Questionnaire |
64.11; 63.22; 58; 55.00; 61.11; 64.11 | — |
| SECONDARY Change in Sensory Profile (SP) - Study 2 |
1.6; 0.2; 1.3; 1.5; 0.9; -0.53 | — |
| SECONDARY Change in Short Sensory Profile (SSP) - Study 2 |
0.9; 0.7; -0.2; -0.5; 0.4; -0.3 | — |
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.
Eligibility Criteria
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
Data sourced from ClinicalTrials.gov (NCT01525901). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.