A Multi-Center, Open-label, Phase 1/2 Trial of the Safety and Efficacy of MVX-220 Gene Therapy Administered by Intra-Cisterna Magna Injection to Participants With Angelman Syndrome
MavriX Bio, LLC
Summary
The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.
Description
MVX-220 is an investigational gene replacement therapy intended to provide a functional copy of the UBE3A gene to individuals with Angelman syndrome. This study is designed to evaluate the safety, tolerability and efficacy of MVX-220 in participants with Angelman syndrome who have deletion, uniparental disomy, or imprinting center disorder genotypes. The study has 2 primary cohorts: Cohort 1 that includes adults followed by Cohort 2 that includes children. All patients will receive a single dose of MVX-220 administered by injection into the cisterna magna. There is no control group and all ind…
Eligibility
- Age range
- 4–50 years
- Sex
- All
- Healthy volunteers
- No
Key Inclusion Criteria: 1. The participant's parent/legal guardian must provide written informed consent. 2. Symptoms consistent with AS and documented genetic confirmation of one of the following genotypes resulting in a diagnosis of AS: 1. Full maternal UBE3A gene deletion causing AS in the region of 15q11.2-q13 2. Uniparental disomy 3. Imprinting center defect 3. The participant must be 18 to 50 years of age, inclusive (for adult participants), or 4 to 8 years of age, inclusive (for pediatric participants), at Screening. 4. The participant must have the ability to ambulate indepe…
Interventions
- GeneticMVX-220
AAVhu68 viral vector
Locations (3)
- Cedars-Sinai Medical CenterLos Angeles, California
- Rush University Medical CenterChicago, Illinois
- Boston Children's HospitalBoston, Massachusetts