FSHD-FOCUS 2: Five years follow up in FSHD

FSHD-FOCUS 2: Five years follow up in FSHD - FSHD-FOCUS 2

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48308

Enrollment

200

Registered

2019-04-04

Start date

2019-05-09

Completion date

Unknown

Last updated

2024-04-15

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: All 203 genetically confirmed FSHD patients that participated in the FSHD-FOCUS study (CMO 2014-121) and were (at the time of the study or before) informed about the genetic confirmation of FSHD.

Exclusion criteria

Exclusion criteria: Incapacitated persons will not be included in this study. FSHD patients that participated in the FSHD-FOCUS study but were not informed about the genetic testing results for FSHD will not be included in this study. Persons with contra-indications for MRI-scan are excluded for that one procedure, but can still be included in the study. Contra-indications for MRI-scan include metallic implants (vascular clips, foreign bodies like metallic splinters in the eye, coronary and peripheral artery stents, prosthetic heart valves, pacemakers and ICD*s, cochlear implants, breast tissue expanders and some other electronic implants or devices), renal insufficiency, previous allergic reaction to contrast fluids and known claustrophobia.

Design outcomes

Primary

Measure	Time frame
Primary outcomes will be a description of the natural history of FSHD, using the patient reported (questionnaires), clinical (muscle strength, functional assessment, clinical severity scores) and radiological outcome measures (MRI and ultrasound).	—

Secondary

Measure	Time frame
Secondary outcomes are the sensitivity to change of commonly used clinical outcome measures, as were used in the baseline FSHD-study and the validation of recently developed outcome measures. Furthermore we assess the evolvement of muscle MRI abnormalities in terms of fatty infiltration and TIRM positivity and the evolvement of muscle ultrasound abnormalities. We will also add bloodsamples to look for epigenetic factors of influence for FSHD and to our Radboudumc Biobank for future research.	—

Measure

Time frame

Secondary outcomes are the sensitivity to change of commonly used clinical outcome measures, as were used in the baseline FSHD-study and the validation of recently developed outcome measures. Furthermore we assess the evolvement of muscle MRI abnormalities in terms of fatty infiltration and TIRM positivity and the evolvement of muscle ultrasound abnormalities. We will also add bloodsamples to look for epigenetic factors of influence for FSHD and to our Radboudumc Biobank for future research.

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Countries

Netherlands

Outcome results