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

A natural history study on infantile facioscapulohumeral muscular dystrophy: five-year follow-up - iFocus2

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON50882

Enrollment

Registered

2021-07-05

Start date

2021-07-07

Completion date

Unknown

Last updated

2024-04-09

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

Conditions

FSHD Landouzy-Dejerine

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: Patients not able to visit the outpatient clinic at the Radboudumc

Design outcomes

Primary

Measure	Time frame
The primary objective is to further discribe the natural course and clinical characteristic of infantile FSHD. The main study outcome will be motor perfomance, as measured by the age-adjusted motor performances scales.	—

Secondary

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

Countries

Netherlands

Outcome results