Phase 1/2 Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)

AOC 1020-CS1 is a first-in-human, 3-part, multi-center, Phase 1/2, randomized, double-blind, placebo-controlled study designed to evaluate safety, tolerability, pharmacokinetics and to explore pharmacodynamics and efficacy of single and multiple-doses of AOC 1020 administered intravenously in participants with FSHD Type 1 (FSHD1) and FSHD Type 2 (FSHD2).

Cohort A comprises a placebo-controlled dose titration cohort (Cohort A1) which includes a nested single and multiple dose schedule. Cohort B comprises a placebo-controlled, nested single ascending dose (SAD)/multiple ascending dose (MAD) cohort (Cohort B1). Cohort C comprises a randomized, placebo-controlled, expansion cohort (Cohort C1). For each of Cohorts A, B, and C the study duration is 12 months as the active treatment period is approximately 9 months for Cohorts A & B and approximately 10.5 months for Cohort C followed by a 12-week follow-up period for Cohorts A & B and a 7-week follow-up period for Cohort C. Once participants have completed active treatment with follow-up through 12 months, they may have the option to participate in a planned open-label extension. If patients do not immediately roll over into the open-label extension study or decline participation, they will be followed for 18 weeks after their last dose of study medication.

Inclusion criteria

• FSHD1 or FSHD2 diagnosis confirmed by documented genetic testing (testing provided by Sponsor)
• Ambulatory and able to walk 10 meters (with or without assistive devices such as one cane, walking stick or braces)
• At least 1 muscle region suitable for biopsy (testing provided by Sponsor)
• Muscle weakness in both upper and lower body, as determined by Investigator

Exclusion criteria

• Pregnant or intends to become pregnant while on study, or active breastfeeding
• Unwilling or unable to continue to comply with contraceptive requirements
• Body mass index (BMI) >35.0 kg/m2 at Screening
• History of muscle biopsy within 30 days of the screening biopsy or planning to undergo any nonstudy muscle biopsies over the duration of the study
• History of bleeding disorders, significant keloid, or other skin or muscle conditions (e.g., severe muscle wasting) that, in the opinion of the Investigator, makes the participant unsuitable for serial muscle biopsy
• Anticipated survival less than 2 years
• Blood or plasma donation within 16 weeks of Study Day 1
• Any contraindication to MRI
• Any abnormal lab values, conditions or diseases that, in the opinion of the investigator or Sponsor, would make the participant unsuitable for the study or could interfere with participation or completion of the study
• Treatment with any investigative medication within 1 month (or 5 half-lives of the drug, whichever is longer) of Screening