The primary goal is to hasten drug development in FSHD by evaluating the usefulness of various outcome measures, validating new clinical outcome measures, and to elucidate cohort characteristics useful for determining eligibility criteria to improve…
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Reliability, validity, responsiveness of the newly developed functional outcome
measure FSHD-COM will be assessed.
Secondary outcome
The FSHD-COM will be correlated and compared to traditional outcome measures
used in FSHD, including manual muscle testing, quantitative muscle testing,
patient-reported outcomes (PROMIS57, upper extremity functional index UEFI,
FSHD-health index FSHD-HI), clinical severity score and FSHD clinical score.
Background summary
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant
inherited progressive muscular dystrophy. Several pharmaceutical companies have
active programs for targeted treatments in FSHD, with time-frames for
first-in-human trials starting in the next 5 years. There are several gaps that
need to be addressed to accelerate efficient drug development and confirmatory
drug trials. As drugs move from preclinical planning into human trials, it is
essential that we validate clinical trial tools and methodology to hasten the
drug development process. This study on clinical outcome measures will provide
knowledge on the multi-site reliability of the clinical outcome measures,
validity, and sensitivity to change, and define subgroups more likely to have
consistent disease progression.
Study objective
The primary goal is to hasten drug development in FSHD by evaluating the
usefulness of various outcome measures, validating new clinical outcome
measures, and to elucidate cohort characteristics useful for determining
eligibility criteria to improve trial efficiency.
Study design
This study is an international multi-site prospective, longitudinal
observational cohort study with a follow-up of 18 months.
Study burden and risks
Participants will be asked for 4 visits to the outpatient clinic at the
department of neurology. Their medical history will be taken, they will undergo
clinical examination and they will fill out questionnaires. Blood samples will
be collected at each visit. DEXA scanning will be performed at two of the
visits (baseline and 12 moths). Risks to subjects may be physical (e.g.,
bruising during muscle strength testing) or psychological (e.g., receiving
confirmation of degree of muscle weakness). There is a small risk of bruising
from blood draws. DEXA scanning uses a very small amount of radiation. All
procedures will be performed according to standard accepted techniques to
minimize risk exposure for subjects. We classify the risk of this study as
negligible.
Reinier Postlaan 4 (935)
Nijmegen 6525GC
NL
Reinier Postlaan 4 (935)
Nijmegen 6525GC
NL
Listed location countries
Age
Inclusion criteria
• Clinical diagnosis of FSHD1 with genetic confirmation as previously described for FSHD110
• Age 18-75 years
• Symptomatic limb weakness
• Able to walk 30 feet without the support of another person.
Exclusion criteria
• Cardiac or respiratory dysfunction
• Orthopedic conditions that preclude safe testing of muscle function
• Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists
• Use of an experimental drug in an FSHD clinical trial within the past 90 days
• Pregnancy.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL64221.091.18 |