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

• Status: Recruiting
• Trial end date: 2023-04-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Icahn School of Medicine at Mount Sinai
• Collaborator: National Institute of Mental Health (NIMH)
• Treatments: Insulin; Insulin, Globin Zinc; Mecasermin; Mitogens

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