A natural history study on infantile facioscapulohumeral muscular dystrophy: five-year follow-up

Completed

• Conditions: FSHD; Landouzy-Dejerine; 10028396; 10028302; 10029317

• Registration Number: NL-OMON50882
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Completion: 2022-12-12
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 18

Inclusion Criteria

- Patients with genetically proven FSHD1 and an onset in childhood (mutation on
chromosome 4q35, leading to a reduced number of less than 10 D4Z4 subunits) or
FSHD2 (SMCHD1 gene mutation on chromosome 18)
- We aim to include all 20 patients who participated in our baseline and 2-year
follow-up study

Exclusion Criteria

Patients not able to visit the outpatient clinic at the Radboudumc

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary objective is to further discribe the natural course and clinical<br /><br>characteristic of infantile FSHD.<br /><br>The main study outcome will be motor perfomance, as measured by the<br /><br>age-adjusted motor performances scales. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secundary study parameters are:<br /><br>- The presence of pain<br /><br>- The presence and degree of fatigue<br /><br>- The experienced quality of life<br /><br>- The degree of echogenicity abnormalities in (quantitative) muscle<br /><br>ultrasonography<br /><br>- The prevalence and severity of systemic (non-muscular) complications<br /><br>(hearing- or visual loss, epilepsy, cardiac abnormalities, deformities or<br /><br>learning disabilities). </p><br>