CompletedPhase 2

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

United States6 participantsStarted 2019-09-13

Plain-language summary

Phelan McDermid syndrome (PMS) is a rare genetic form of autism spectrum disorder (ASD) due to deletions or mutations in the SHANK3 gene. This is a pilot open labeled trial of growth hormone therapy in children with PMS targeting social withdrawal and repetitive behavior. This research study will include children with PMS between 2-12 years of age who will receive growth hormone daily for 12 weeks, if found to be eligible. The aim of this study is to evaluate the effect of growth hormone on behavioral outcomes such as the aberrant behavior checklist social withdrawal subscale (ABC-SW) and repetitive behavior scale- revised (RBS-R). The effects of growth hormone on visual evoked potentials will also be assessed. Growth hormone increases insulin like growth factor 1 (IGF-1) levels and a previous trial of IGF-1 therapy in PMS children showed improvement in these behavioral scales. Growth hormone has been studied for decades with an excellent safety profile and fewer adverse effects compared to IGF-1 therapy in other conditions. Hence, this may be a viable therapeutic option. There is no treatment currently available for PMS and this trial is therefore extremely important.

Who can participate

Age range

2 Years – 12 Years

Sex

ALL

See this in plain English?

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

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

ABC - Social Withdrawal Subscale

Timeframe: After 12 weeks of growth hormone therapy

Repetitive Behavior Scale-Revised (RBS-R)

Timeframe: After 12 weeks of growth hormone therapy

The Sensory Profile

Timeframe: After 12 weeks of growth hormone therapy

The Sensory Assessment for Neurodevelopmental Disorders (SAND)

Timeframe: After 12 weeks of growth hormone therapy

Trial details

NCT IDNCT04003207

SponsorSwathi Sethuram

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2020-06-05

Results submitted2024-04-09

View on ClinicalTrials.gov More Phelan McDermid Syndrome trials

Plain-language summary

Who can participate

Age range

2 Years – 12 Years

Sex

ALL

See this in plain English?

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

What they're measuring

ABC - Social Withdrawal Subscale

Timeframe: After 12 weeks of growth hormone therapy

Repetitive Behavior Scale-Revised (RBS-R)

Timeframe: After 12 weeks of growth hormone therapy

The Sensory Profile

Timeframe: After 12 weeks of growth hormone therapy

The Sensory Assessment for Neurodevelopmental Disorders (SAND)

Timeframe: After 12 weeks of growth hormone therapy