CompletedPhase 2

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

United States19 participantsStarted 2012-02

Plain-language 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.

Who can participate

Age range5 Years – 12 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1

Timeframe: Baseline and Week 12

Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2

Timeframe: Baseline and Week 12

Trial details

NCT IDNCT01525901

SponsorIcahn School of Medicine at Mount Sinai

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2016-08-23

Results submitted2022-03-08