Facioscapulohumeral Muscular Dystrophy (FSHD)
Conditions
Brief summary
The purpose of this study is to evaluate the safety, tolerability, and preliminary efficacy of SFL-0821 in adult patients with Facioscapulohumeral Muscular Dystrophy (FSHD)
Interventions
DRUGSFL-0821 for injection
single or multiple doses of SFL-0821 by intravenous (IV) infusion
DRUGPlacebo
calculated volume to match active treatment by IV infusion
Sponsors
Soufflé Therapeutics, Inc.
Study design
Allocation
RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Genetically confirmed diagnosis of FSHD 1 or 2 * FSHD Clinical Severity Score ≥1.5 to ≤4 at screening (5-point Ricci scale) * Ambulatory and able to walk 10 meters between ≥5 and ≤14 seconds (only assistive devices allowed are single cane or splints for ankle-foot orthoses) * Must have eligible lower extremity muscle for biopsy as determined from MRI by a central reader
Exclusion criteria
* History of any illness or any clinical condition that, in the opinion of the Investigator, might confound the results of the study or pose an additional risk in administering investigational product to the participant. * History of biopsy of the same muscle within 30 days of the Screening biopsy or planning to undergo any non-study muscle biopsies over the duration of the study * Treatment with an oligonucleotide, gene therapy, or other experimental therapies for FSHD.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of participants with treatment-emergent adverse events, serious adverse events, and any other dose-limiting toxicities as assessed by CTCAE v6.0. | Part A: Up to Week 24; Part B: Up to Week 48 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Pharmacokinetics of SFL-0821: Maximum Observed Plasma Concentration (Cmax) | Part A and B: through 24 hours post dose (all cohorts) | — |
| Pharmacokinetics of SFL-0821: Elimination half-life (T1/2 [h]) | Part A and B: through 24 hours post dose (all cohorts) | — |
| Pharmacokinetics of SFL-0821: Area under the concentration-time curve (AUC) | Part A and B: through 24 hours post dose (all cohorts) | — |
| DUX4-regulated gene expression in skeletal muscle | Part A: Up to Week 24; Part B: Up to Week 48 | — |
| Incidence of anti-drug antibodies (ADAs), and if positive, of neutralizing ADAs | Part A: Up to Week 24; Part B: Up to Week 48 | — |
| Change from Baseline in quantitative skeletal muscle magnetic resonance imaging (MRI) at the cohort specified timepoints after dosing | Part B: Up to Week 48 | — |
| Change from Baseline to Week 48 in 10-Meter Walk-Run-Test (10MWRT) | Part B: Up to Week 48 | Assessment used to measure gait speed and functional mobility over a short distance (10 meters). |
| Change from Baseline to Week 48 in Timed Up-and-Go (TUG) Test | Part B: Up to Week 48 | Assessment of functional mobility by measuring the time required to stand up from a chair, walk 3 meters, turn, return, and sit down. |
| Change from Baseline to Week 48 in 4-Step Stair Climb Test | Part B: Up to Week 48 | Assessment of the time to ascend and descend 4 stair steps. |
| Change from Baseline to Week 48 in Sit-to-Stand Test | Part B: Up to Week 48 | Assessment of the number of full stands completed in the allotted time. |
Countries
Australia, New Zealand
Contacts
CONTACTSoufflé Therapeutics, Inc.
Outcome results
None listed