Gene therapy trial hopes to tackle rare Autism-Linked condition

NCT ID NCT06662188

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This early-stage trial tests a single dose of JAG201 gene therapy, given directly into the brain fluid, for people with SHANK3 haploinsufficiency (Phelan-McDermid syndrome), a rare genetic condition causing developmental delays and autism-like symptoms. The study includes children aged 2-9 and may later include adults. The main goal is to check safety and tolerability, while also looking for signs of improvement in sensory and developmental function.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for SHANK3 HAPLOINSUFFICIENCY are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

Phelan-McDermid syndrome Phelan-McDermid syndrome due to SHANK3 mutation

As listed by the trial registrant

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

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • Rush University

    RECRUITING

    Chicago, Illinois, 60612, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Seaver Autism Center at Mount Sinai

    RECRUITING

    New York, New York, 10029, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••