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

NCT07690527 | Enrolling By Invitation Phase 1 DMC

• 2 other identifiers: RB001-101-LTFU2026R0416-0001
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

SHANK3 Haploinsufficiency; Phelan-McDermid Syndrome

Keywords

AAV; SHANK3; Phelan-McDermid Syndrome; Gene therapy; 22q13.3 deletion syndrome

Outcome Measures

Primary Outcomes (1)

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

  Types, severity, and incidence of adverse events (AEs) and serious adverse events (SAEs)

  1 to 5 years

Secondary Outcomes (13)

• To evaluate the changes on Clinical Global Impression Scale - Severity (CGI-S) after a single intracerebroventricular injection of RB001

  1 to 5 years

• To evaluate the changes on Clinical Global Impression Scale - Improvement (CGI-I) after a single intracerebroventricular injection of RB001

  1 to 5 years

• To evaluate the changes on Patient's Global Impressions of Improvement (PGI-I) after a single intracerebroventricular injection of RB001

  1 to 5 years

• To evaluate the changes on Childhood Autism Rating Scale (CARS-2) after a single intracerebroventricular injection of RB001

  1 to 5 years

• To evaluate the changes on Autism Behavior Checklist (ABC) after a single intracerebroventricular injection of RB001

  1 to 5 years

Other Outcomes (1)

• To evaluate changes in Electroencephalogram (EEG) patterns after a single intracerebroventricular injection of RB001

  1 to 5 years

Study Arms (1)

RB001

EXPERIMENTAL

RB001 interaventricular administration; the duration of the study is 1 to 5 years follow-up visit period.

Biological: RB001

Interventions

RB001 BIOLOGICAL

The study enrolled up to 2 cohorts, evaluating a higher or lower dose

RB001

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with SHANK3-related Phelan-McDermid Syndrome who have completed the last follow-up visit (Week 52 post-dosing) in the RB001-101 study.

You may not qualify if:

• Some conditions deemed unsuitable for participation in this study by the investigator

Sponsors & Collaborators

• Shenzhen Reborngene Therapeutics Co., Ltd.: collaborator
• Peking University First Hospital: lead

Study Sites (1)

Peking University First Hospital

Beijing, China, 100000, China

Location

Related Links

• RB001-101(NCT07014020)

MeSH Terms

Conditions

Telomeric 22q13 Monosomy Syndrome

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Chief Physician

Model Details: Single group assignment: an open-label, single arm, dose-escalation clinical study to evaluating the long-term safety, tolerability and preliminary efficacy of a single intracerebroventricular Injection of RB001

Study Record Dates

• First Submitted: July 1, 2026
• First Posted: July 8, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): July 1, 2031
• Study Completion (Estimated): December 1, 2031
• Last Updated: July 13, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)