Actively Recruiting
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Led by HuidaGene Therapeutics Co., Ltd. · Updated on 2024-11-26
6
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
Sponsors
H
HuidaGene Therapeutics Co., Ltd.
Lead Sponsor
P
Peking University First Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS). Affecting primarily in males, this disorder is characterized by severe intellectual disability, motor dysfunction, infantile hypotonia, epilepsy, respiratory tract infections, and premature death before 25 years of age with no curative therapy. HG204 is a CRISPR RNA-editing therapy packaging novel high-fidelity Cas13Y (hfCas13Y) technology, using one single adeno-associated virus (AAV) vector to target and knock down MECP2 mRNA in the brain. Preclinical studies showed that a single intracerebroventricular injection of HG204 persistently decreased MECP2 mRNA and MECP2 protein in the cortex of the MDS mice, reversed the abnormal motor and social phenotypes, and significantly prolonged survival in MDS mouse models.
CONDITIONS
Official Title
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male participants aged 2 to 18 years at the time of consent
- Genetic and clinical diagnosis confirming MECP2 Duplication Syndrome
- Stable seizure pattern or no seizures on medical treatment and physical therapy stable for at least 2 months before screening
- Willingness to follow the study protocol, including sample collection and hospitalization for brain injection surgery
- Acceptable results in blood, chemistry, and urine lab tests
You will not qualify if you...
- Presence of MECP2 gene triplication
- Other genetic syndromes besides MECP2 Duplication Syndrome
- Significant brain or cerebellar atrophy or degenerative changes on MRI at screening
- History of hypertension, cardiomyopathy, myocardial ischemia, atrial fibrillation, or other cardiovascular diseases
- Central nervous system surgery within 6 months before enrollment
- Systemic use of immunosuppressive drugs within 3 months before enrollment
- Prior gene therapy or oligonucleotide treatments
- Any condition preventing completion of follow-up exams or deemed unsuitable by the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Peking University First Hospital
Beijing, Beijing Municipality, China
Actively Recruiting
Research Team
S
Study Director
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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