Cure My Disease

Don't miss your cure!

 Log in / Sign up

Gene therapy for rare genetic syndrome moves to Long-Term safety check

NCT ID NCT07690527

Disease control Sponsor: Peking University First Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 08, 2026 · Last updated Jul 14, 2026 · Updated 4 times

Summary

This study follows children with Phelan-McDermid syndrome (a rare genetic disorder causing developmental delays) who received a single dose of RB001 gene therapy injected into the brain. Researchers will monitor them for up to 5 years to see if the treatment is safe and whether it improves symptoms. The goal is to understand if this one-time gene therapy can help manage the condition long-term.

What this could mean

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

Active substance
RB001 (gene therapy)
What this could lead to
If successful, this gene therapy could reduce symptoms of Phelan-McDermid syndrome, potentially improving quality of life for affected children.
What could go wrong
This is an early, small study (8 participants) testing safety first. Gene therapies can have side effects, and it is unknown if the benefits will last or outweigh risks.

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

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 1

The first testing in people. Mainly checks safety and dose, usually in a small group.

Participants

About 8 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Aug 2026

An estimate. Start dates often move.

Expected to finish

Dec 2031

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Patients with SHANK3-related Phelan-McDermid Syndrome who have completed the last follow-up visit (Week 52 post-dosing) in the RB001-101 study. Exclusion Criteria: * Some conditions deemed unsuitable for participation in this study by the investigator

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Phelan-mcdermid syndrome 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.

Phelan-mcdermid syndrome SHANK3 haploinsufficiency

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Peking University First Hospital

    Beijing, China, 100000, China

More trials for these conditions

Other studies related to the condition(s) this trial covers.