Can tracking a rare genetic syndrome unlock its mysteries?

NCT ID NCT02461420

Ongoing Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

First seen Aug 06, 2026 · Last updated Aug 07, 2026 · Updated 1 time

Summary

This study follows people with Phelan-McDermid syndrome, a rare genetic condition linked to autism and intellectual disability, to map how the syndrome unfolds over two years. Researchers will measure changes in thinking, behavior, language, and motor skills, and use brain imaging to look for biomarkers. The goal is to better understand the syndrome's natural history and the genetic factors that shape its many forms.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this study could improve understanding of Phelan-McDermid syndrome, potentially guiding future treatments and care strategies.
What could go wrong: This is an observational study, so it won't test a treatment. Findings may not apply to all individuals with the syndrome, and the long follow-up may be challenging.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

autism spectrum disorder intellectual disability Phelan-McDermid syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

AUTISM SPECTRUM DISORDER INTELLECTUAL DISABILITY PHELAN-MCDERMID SYNDROME

Contacts and locations

Locations

Boston Children's Hospital

Boston, Massachusetts, 02115, United States
Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States
National Institutes of Health

Bethesda, Maryland, 20892, United States
Rush University Medical Center

Chicago, Illinois, 60612, United States
Stanford University

Stanford, California, 94305, United States

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