Status:

COMPLETED

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

Lead Sponsor:

Icahn School of Medicine at Mount Sinai

Collaborating Sponsors:

National Institute of Mental Health (NIMH)

Conditions:

22q13 Deletion Syndrome

Phelan-McDermid Syndrome

Eligibility:

All Genders

5-12 years

Phase:

PHASE2

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 evalu...

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...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

February 1 2012

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

August 23 2016

Estimated Enrollment :

19 Patients enrolled

Trial Details

Trial ID

NCT01525901

Start Date

February 1 2012

End Date

August 23 2016

Last Update

May 12 2022

Active Locations (1)

Enter a location and click search to find clinical trials sorted by distance.

Page 1 of 1 (1 locations)

1

Seaver Austin Center, Icahn School of Medicine at Mount Sinai

New York, New York, United States, 10029