Trials / Active Not Recruiting
Active Not RecruitingNCT06670378
Natural History Study for Patients With Nemaline Myopathy in the UK
A Multicentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy in the United Kingdom: NatHis-NM-MDUK
- Status
- Active Not Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 45 (estimated)
- Sponsor
- University of Oxford · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
The goal of this study is to to learn more about what assessments would be useful to measure for NM and what normally happens during the lives of people with NM to support future clinical trial development.
Detailed description
Current treatments for people living with nemaline myopathy are supportive only. Several potential therapies are in development which may be available in the next 5-10 years. The barrier to these becoming available is that there is little data available on the natural progression (natural history) of nemaline myopathy. This means that it would be difficult to do a clinical trial of a treatment because it is not known which assessments would be useful to measure or what normally happens during the lives of people with NM.This study aims to better define the natural history and disease specific outcome measures and biomarkers. This study will comprehensively evaluate the natural clinical progression of the disease using medical data and examination findings, scales and questionnaires for the assessment of motor function, breathing, swallow function and Quality of life and fatigue. In addition it will collect data on continuous movement and gait analysis using real world data and wearable sensors (Syde and Maiju), blood samples for future genetic and proteomic analysis and respiratory analysis using ventilatory and thoraco-abdominal pattern for paediatric participants.
Conditions
Timeline
- Start date
- 2024-10-07
- Primary completion
- 2029-08-01
- Completion
- 2029-08-01
- First posted
- 2024-11-01
- Last updated
- 2026-04-13
Locations
4 sites across 1 country: United Kingdom
Source: ClinicalTrials.gov record NCT06670378. Inclusion in this directory is not an endorsement.