Observational Study of Primary Mitochondrial Disease (SPIMM-300)
Research type
Research Study
Full title
A Prospective Observational Study of Patients with Primary Mitochondrial Disease (SPIMM-300)
IRAS ID
218005
Contact name
Grainne Gorman
Contact email
Sponsor organisation
STEALTH BIOTHERAPEUTICS
Clinicaltrials.gov Identifier
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
This is a prospective, observational research study of the usual care for primary mitochondrial disease (PMD). There are no study treatments. PMD causes a varied group of disorders but a majority of patients with PMD suffer from signs and symptoms of muscle disease, exercise intolerance and fatigue, which frequently impact the patient’s ability to perform normal activities of daily life.
The main purpose of this study is to look at the relationship between patients’ genetic test results and the signs and symptoms of PMD. Learning more about how variation in genes may relate to PMD symptoms may help in developing future treatments for PMD. Regional differences in the genetic test methods and in the standard clinical care of PMD patients will also be examined. In addition, the Sponsor will be looking at patient information in order to identify potential patients for future research studies of investigational drugs to treat PMD. Data will be collected from: (1) Investigator completed questionnaires that capture information from the patient’s medical record, (2) patient completed questionnaires about disease symptoms (unvalidated) and quality of life, and (3) a timed walking test to examine the extent of exercise tolerance and fatigue, an up-and-go test to assess mobility, and a sitto-stand test to assess functional lower limb strength and balance. The enrolment visit is the only required study visit. After this visit, information will be collected from routine clinic visits, or the study doctor will phone the study patients about every 6 months for up to a year.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
17/NE/0201
Date of REC Opinion
15 Aug 2017
REC opinion
Further Information Favourable Opinion