FSHD
Conditions
Interventions
None listed
Sponsors
Fulcrum Therapeutics
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: (1) Age 18-60 years old. (2) Ability to provide informed consent. (3) Confirmed diagnosis of FSHD1 with 1-7 repeats via assessment of the size of the D4Z4 array on chromosome 4. Enrollment may be controlled to ensure that patients with both lower (1-3) and higher (4-7) repeat numbers are included. (4) Clinical Severity Score between 2 and 4 on Ricci*s scale (scale range is from 0 to 5). (5) Commitment to complete the two visits for skeletal muscle needle biopsy and whole-body MRI. (6) Able to complete the RWS, TUG and FSHD PRO at the screening visit. (7) Presence of STIR positive signal in at least one leg skeletal muscle eligible for needle biopsy, at screening MRI.
Exclusion criteria
Exclusion criteria: (1) Any condition that in the opinion of the principal investigator or the sponsor makes the subject unlikely to complete the study schedule of assessments. (2) Any contraindication for MRI (including severe claustrophobia and any shrapnel or metal implants in the body that are not MRI compatible). (3) Any contraindication for skeletal muscle needle biopsy (including current or recent use of anticoagulants or aspirin). (4) Any ongoing medical problems in need of urgent medical care or hospitalization or scheduled procedures that will interfere with the schedule of assessments. (5) Pregnancy. (6) Any anticoagulants for at least one month and anti-platelet agents for at least 1 week before each biopsy are prohibited as they increase the risk of hematomas following skeletal muscle needle biopsy.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoint is the measurement of DUX4-activation under natural history conditions using a panel of DUX4-regulated gene transcripts in skeletal muscle needle biopsies from FSHD patients obtained 4-8 weeks apart (DUX4 activation Endpoint). | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary endpoint is the measurement of skeletal muscle tissue replacement by fat in FSHD patients under natural history conditions using whole body MRI obtained 4-12 weeks apart (MRI fat fraction Endpoint). | — |
Countries
Netherlands
Outcome results
None listed