FSHD-FOCUS: Facioscapulohumeral muscular dystrophy; (epi)genetic and environmental factors influencing disease severity

FSHD-FOCUS: Facioscapulohumeral muscular dystrophy; (epi)genetic and environmental factors influencing disease severity - FSHD-FOCUS

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON41011

Enrollment

200

Registered

2014-06-18

Start date

2014-08-01

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

FSHD (facioscapulohumeral muscular dystrophy) Landouzy Dejerine disease

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: 1. All FSHD patients of 18 years and older with - genetically proven FSHD or; - clinical FSHD diagnosis and who give permission for genetic testing to confirm the diagnosis 2. Family members of FSHD patients without symptoms of FSHD who give permission for genetic testing for FSHD; i.e.non-penetrant FSHD patients

Exclusion criteria

Exclusion criteria: Incapacitated persons

Design outcomes

Primary

Measure	Time frame
Primary outcomes will be (epi)genetic differences between asymptomatic, mild and severely affected patients assessed by genomic expression profiling. Also, outcomes on questionnaires on environmental factors will be compared for different disease severities. Disease severity will be assessed using a clinical severity score (Ricci-score).	—

Secondary

Measure	Time frame
Secondary outcomes are degree of muscle weakness using MRC-gradation, motor function measure, assessment of facial weakness, forced vital capacity using spirometry and 6-minute walk test. Other secondary outcomes are scores on the following questionnaires: FSHD history, SIP68, FAI, McGill pain questionnaire, CIS-fatigue, questionnaire on falling. Furthermore, we assess the fat fraction and inflammation in muscles of the leg using MRI-scans.	—

Measure

Time frame

Secondary outcomes are degree of muscle weakness using MRC-gradation, motor function measure, assessment of facial weakness, forced vital capacity using spirometry and 6-minute walk test. Other secondary outcomes are scores on the following questionnaires: FSHD history, SIP68, FAI, McGill pain questionnaire, CIS-fatigue, questionnaire on falling. Furthermore, we assess the fat fraction and inflammation in muscles of the leg using MRI-scans.

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Countries

Netherlands

Outcome results