muscle weakness and fatigue
Conditions
Interventions
* IPAQ
* Syde® device fitting
* Symptom diary (initiation)
Screening Visit (0 day)
* Informed consent
* Inclusion/Exclusion (including MMT to assess muscle/motor function deficit,
10-MWT to assess ability to walk, and
FVC to assess pulmonary dysfunction)
* Demographics (medical records)
* Medical history (medical records)
* Medication use (medical records)
* Vital signs and ECG (medical records or primary data collection
note that
FVC will be evaluated as part of the
assessment of the exclusion criteria)
* Strength measurements using QMA and HHD (note that MMT will be conducted at
the start of the Screening Visit
as part of the assessment of the inclusion criteria)
* 1-Minute Sit-to-Stand Test
* 4SCT
* Full physical, neurological, and functional examination
* PROMIS Questionnaires
and
* Adverse events (AE)/Serious adverse events (SAE).
Visit 1 (30 ± 3 days), Visit 2 (60 ± 3 days), and End of Study Visit (90 ± 3
days)
* Medication use (at Visit 1, Visit 2, and End of Study Vi
* Strength measurements using QMA, HHD, and MMT (at Visit 1, Visit 2, and End
of Study Visit)
* 10-MWT (at Visit 1, Visit 2, and End of Study Visit)
* 1-Minute Sit-to-Stand Test (at Visit 1, Visit 2, and End of Study Visit)
* 4SCT (at Visit 1, Visit 2, and End of Study Visit)
Sponsors
RyCarma Therapeutics Inc
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: - Males and females aged 18 years and older at screening; - Confirmed genetic diagnosis of RYR1-RM with autosomal dominant mutation and supporting clinical phenotype with demonstrable proximal weakness on at least one of the baseline study assessments; - Evidence of at least one demonstrable muscle/motor function deficit assessed through Manual muscle Testing (MMT) and scored using the medical Research Council (MRC) Scale for muscle strength on physical examination; - Able to walk 10 meters, with or without assistance - e.g. with a cane (assessed using the 10 Meter Walk Test); - Willingness and ability to comply with scheduled visits and study procedures; - Willingness to be fitted with the Syde device at Screening Visit (for inclusion in the exploratory objective analysis only); and - Able to provide written informed consent and understand the study procedures in the informed consent form (ICF).
Exclusion criteria
Exclusion criteria: - Severe pulmonary dysfunction at Screening (FVC
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measure is muscle strength assessment and change or variability in muscle strength over the duration of the study This will be tested using multiple methods, including Quantitative Muscle Assessment (QMA), Manual Muscle Test (MMT), and Hand Held Dynamometry (HHD). Additional tests for measuring strength including 10 meter walk test, 1-min sit-to-stand test and stair climb test will also be used in this study. Muscles to be measured are neck flexion, shoulder abduction, elbow flexion, knee extension and flexion strength. The study will essentially determine endpoints to take forward in further studies. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcomes measures include: • Fatigue physical function and physical activity will be measured using PROs. • Demographics and clinical characteristics (medication use including current and prior medications, medical history, physical, neurological, and functional exam, height, weight, BMI, and vital signs) • Patient symptoms will be reported using a symptom diary that will be completed by patients in their own words detailing their main symptom,other symptoms as well as medications they are currently taking. | — |
Countries
France, Netherlands, United Kingdom
Contacts
Public ContactYW Webb
RyCarma Therapeutics Inc
Outcome results
None listed