Evaluating a new CRISPR therapy for MECP2 Duplication Syndrome

An Open-label, Multiple-dose Clinical Study to Evaluating the Safety, Tolerability and Preliminary Efficacy of a Single Intracerebroventricular Injection of HG204 for the Treatment of MECP2 Duplication Syndrome

This study is testing a new CRISPR therapy to see if it can help improve symptoms for people with MECP2 Duplication Syndrome by reducing a specific gene in the brain.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 6 (estimated)
• Ages: 2 Years to 18 Years
• Sex: Male
• Sponsor: HuidaGene Therapeutics Co., Ltd. (Industry-sponsored)
• Locations: 1 site (Beijing, Beijing Municipality)
• Trial ID: NCT06615206 on ClinicalTrials.gov

What this trial studies

This clinical trial aims to assess the safety, tolerability, and efficacy of HG204, a novel CRISPR RNA-editing therapy designed to target and reduce MECP2 mRNA in the brain. The therapy utilizes high-fidelity Cas13Y technology delivered via a single adeno-associated virus vector, with the goal of alleviating symptoms associated with MECP2 Duplication Syndrome, a severe neurodevelopmental disorder. Preclinical studies have shown promising results in mouse models, including improved motor function and prolonged survival. Participants will undergo an intracerebroventricular injection of the therapy, and their progress will be monitored closely.

Who should consider this trial

Good fit: Ideal candidates for this study are males aged 2 to 18 years with a confirmed diagnosis of MECP2 Duplication Syndrome and stable seizure patterns.

Not a fit: Patients with MECP2 gene triplication or significant concurrent genetic syndromes may not benefit from this therapy.

Why it matters

Potential benefit: If successful, this therapy could provide a groundbreaking treatment option for patients with MECP2 Duplication Syndrome, potentially improving their quality of life and extending survival.

How similar studies have performed: While this approach is novel, preclinical studies have shown success in similar gene-editing strategies for related conditions.

Eligibility criteria

Inclusion Criteria:

* Males ≥ 2 and ≤18 years at the time of signing informed consent;
* Genetic test and clinical confirmed diagnosis of MDS;
* Stable pattern of seizures, or has had no seizures while currently receiving medical treatment (including antiepileptics) and physical therapy are stable for at least 2 months before screening;
* Willing to adhere to protocol, including biological samples collection and hospitalization for intracerebroventricular injection surgery;
* Acceptable hematology, clinical chemistry, and urine laboratory parameters.

Exclusion Criteria:

* MECP2 gene triplication;
* Concurrent genetic syndromes other than MDS;
* Significant brain or cerebellar atrophy, or other significant degenerative changes as shown in cranial MRI at screening;
* Prior or current hypertension, cardiomyopathy, myocardial ischemia or atrial fibrillation and other cardiovascular diseases;
* Prior central nervous system surgery within 6 months before enrolment;
* Systemic use of immunosuppressive drugs within 3 months before enrolment;
* Prior gene therapy or oligonucleotide therapy treatments;
* Any other conditions that would not allow the potential subject to complete follow-up examinations during the study and would, in the opinion of the investigator, make the potential subject unsuitable for the study.

Where this trial is running

Beijing, Beijing Municipality

• Peking University First Hospital — Beijing, Beijing Municipality, China (Recruiting)

Study contacts

• Study coordinator: Study Director

Conditions MECP2 Duplication Syndrome; MECP2; dupMECP2; CNS; neurodevelopmental disease; Gene-editing; HG204; CRISPR