LGMDR9
Conditions
Brief summary
Phase 1 dose escalation study to assess tolerability and safety of ATA-100 with 5-year follow-up
Detailed description
Multicenter, Phase 1 study evaluating safety, pharmacodynamic, and immunogenicity of ATA-100, an Adeno-Associated Virus (AAV) vector carrying the human FKRP transgene. This study is an open-label dose escalation phase with long-term follow-up (LTFU) period. Two dose cohorts will be enrolled sequentially and enrollment. An initial cohort of three (3) patients will receive a potentially effective dose, followed by a 2nd higher dose cohort of 3 patients. All subjects will be followed for up to 5 years after active IMP (ATA-100) administration.
Interventions
BIOLOGICALATA-100 (AAV9 encoding FKRP gene)
Single intravenous infusion on Day 0
Sponsors
Atamyo Therapeutics
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Intervention model description
Single IV administration of ATA-100, open label, 2 sequential cohorts
Eligibility
Sex/Gender
ALL
Age
16 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
* 1\. Female and male ambulant patients * 2\. Patients ≥ 16 years old * 3\. Documented LGMDR9 diagnosis based on clinical presentation and genotyping confirming the FKRP gene mutations * 4\. Moderate diaphragmatic muscle impairment
Exclusion criteria
* 1\. Detectable serum neutralizing antibodies against AAV9 * 2\. Cardiomyopathy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety and tolerability | Baseline through 12 months | Incidence of Adverse Events and significant laboratory changes |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Timed Up and Go (TUG) test | Baseline through 12 months | Secondary endpoint |
| Change from baseline in velocity as measured by 10MWT | Baseline through 12 months | 10-meter walk test |
| 2-minute walk distance test | Baseline through 12 months | Secondary endpoint |
| Combined endpoint (global testing) | Baseline through 12 months | Change in North Star Assessment for musculary Dystrophy (NSAD) and Forced Vital capacity (FVC %) from baseline |
| Muscle MRI | Baseline through 12 months | To measure change from baseline in fat repartition fraction in thigh and leg skeletal muscles |
| Muscle Biopsy | Baseline through 12 months | Quantification of FKRP positive muscle fibers |
| Patient reported outcome and quality of life assessment | Baseline through 12 months | Quality of Life in genetic Neuromuscular Disease (QoL-gNMD), with a range from 0 to 78, the higher the score the worse the quality of life |
| Cardiac MRI | Baseline through 12 months | To measure cardiac function (left ejection fraction) |
Countries
Denmark, France, United Kingdom
Outcome results
None listed