An observational study in participants with ryanodine receptor 1-related myopathies (RYR1-RM) to determine optimal endpoint measurements

ARMGO Pharma (United States)0 个研究点目标入组 20 人开始时间: 2024年5月15日最近更新: 2024年5月27日

适应症

试验速览

暂无简介。

•1. Male and female patients (biological sex*) aged 18 years or older at Screening; Adult males and females aged 18 years and older at Screening
•2. 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
•3. Evidence of at least one demonstratable muscle/motor function deficit assessed through MMT and scored using the MRC Scale for muscle strength on physical examination
•4. Able to walk 10 meters, with or without assistance - e.g., with a cane (assessed using the 10-MWT)
•5. Willingness and ability to comply with scheduled visits, and study procedures
•6. Willingness to be fitted with the Syde® device at Screening Visit (for inclusion in the exploratory objective only)
•7. Able to provide written informed consent and understand the study procedures in the informed consent form (ICF)

•Participants meeting at least one of the following criteria will not be eligible for the study:
•1. Severe pulmonary dysfunction at Screening (FVC < 40% predicted) or evidence of pulmonary exacerbation (note that pulmonary exacerbations refer to acute worsening respiratory symptoms resulting from a decline in lung function)
•2. Significant cognitive impairment in the judgement of the investigator who will be unable to follow the protocol
•3. Patients with progressive neurological conditions (e.g., Parkinson’s disease)
•4. Non-ambulant patients
•5. Pregnant women

发起方

ARMGO Pharma (United States)