Growth Hormone Treatment in Children With Phelan McDermid Syndrome

Plain-language summary

This study examined recombinant human growth hormone treatment in children with Phelan-McDermid syndrome, a condition linked to changes in the SHANK3 gene. Children aged 2 to 12 with a pathogenic deletion or mutation in SHANK3 were eligible. The study was carried out in Phase 2 and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 2

Status

Completed

Sponsor

Swathi Sethuram

Intervention

Recombinant human Growth hormone

Start date

9/13/2019

Estimated completion

6/5/2020

Countries

United States

Related genes

Locations

• New York, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Known pathogenic deletions or mutations in SHANK3 gene diagnosed by array CGH and/or direct sequencing.
* Children between 2 and 12 years of age.
* Open epiphyses on bone age x ray

Exclusion Criteria:

* closed epiphyses;
* active or suspected neoplasia;
* intracranial hypertension;
* hepatic insufficiency;
* renal insufficiency;
* cardiomegaly/valvulopathy;
* history of allergy to growth hormone 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 who are deemed too medically compromised to tolerate the risk of experimental treatment with growth hormone.
* Patient with visual problems that preclude the use of VEP's