By InvitationPhase 1

Long-Term Follow-Up Study for RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)

China8 participantsStarted 2026-08-01

Plain-language summary

This is a long-term follow-up study of participants in the RB001-101 gene replacement therapy clinical trial for Children With SHANK3-related Phelan-McDermid Syndrome (PMS). Participants will roll over from the parent study into this long-term study for continuous safety monitoring and preliminary efficacy assessment for up to 5 years.

Who can participate

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: * 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

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

To evaluate the safety and tolerability of a single intracerebroventricular injection of RB001

Timeframe: 1 to 5 years

Trial details

NCT IDNCT07690527

SponsorPeking University First Hospital

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2031-07-01

View on ClinicalTrials.gov More SHANK3 Haploinsufficiency trials

Plain-language summary

Who can participate

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.