Neuromuscular Diseases Clinical Trial
Official title:
3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants
Verified date | November 2023 |
Source | Rigshospitalet, Denmark |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2. investigate good and reliable outcome measures
Status | Active, not recruiting |
Enrollment | 17 |
Est. completion date | November 1, 2025 |
Est. primary completion date | June 1, 2021 |
Accepts healthy volunteers | |
Gender | All |
Age group | 18 Years and older |
Eligibility | Inclusion Criteria: - Pathogenic variant in the anoctamin 5 gene - Age more than 18 years Exclusion Criteria: None |
Country | Name | City | State |
---|---|---|---|
Denmark | Copenhagen Neuromuscular Center | Copenhagen | Region Hovedstaden |
Lead Sponsor | Collaborator |
---|---|
Rigshospitalet, Denmark | Funding: Aase og Ejnar Danielsens Foundation, Funding: Foundation for research in Neurology, Funding: Grosserer L. F. Foghts Foundation, Funding: Hede Nielsen Foundation, Funding: Oda og Hans Svenningens Foundation, Funding: Torben og Alice Frimodts Foundation, Funding: Torkild Steensbecks Legat, Funding: Toyota Foundation |
Denmark,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Change in fat fraction during 3 years | Change in fat fraction (%) during 3 years in muscles from the whole body measured from Dixon MRI. | 40 minutes | |
Secondary | Change in fatigue during 3 years | Change in fatigue during 3 years measured through the questionnaire 'fatigue severity score', FSS. 9 questions scoring from 1-7 where 7 correlates to "strongly agree". Higher score means more fatigue. | 5 minutes | |
Secondary | Change in quality of life during 3 years | Change in quality of life during 3 years measured through the questionnaire SF36. 36 questions. Higher score means higher quality of life. | 15 minutes | |
Secondary | Change in pain and function during 3 years | Change in pain and function in lower limbs during 3 years measured through the questionnaire 'low back pain rating scale ', LBPRS. 6 questions rated from 0-10 with 0 meaning no pain. Higher score means more pain. | 10 minutes | |
Secondary | Change in motor function during 3 years | Change in motor function during 3 years measured using the test the Motor Function Measure 32. 32 tasks to do, each task score 0-3. Higher score means better motor function. | 30 minutes | |
Secondary | Change in handgrip during 3 years | Change in handgrip during 3 years measured using a handgrip dynamometer. | 10 minutes | |
Secondary | Change in whole body muscle strenght during 3 years | Change in muscle strenght in whole body during 3 years measured using the technique 'manual muscle testning (MMT)' and the 'manual rating scale (MRC) ' | 30 minutes | |
Secondary | Change in muscle strenght during 3 years | Change in muscle strenght in knee, hip and back during 3 years measured using a staionary dynamometer (a biodex dynamometer) | 30 minutes | |
Secondary | Change in balance during 3 years | Change in balance during 3 years measured using a biosway | 20 minutes |
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