This is a first-in-human study evaluating the safety, tolerability, and effect of HG204, a novel CRISPR RNA-editing therapy, in patients with MECP2 duplication syndrome (a rare inherited neurological disease). Boys aged 2-18 with a genetically and clinically confirmed diagnosis can take part. It is a study without an assigned phase and is still enrolling participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.