The primary objective is to describe the clinical characteristics of infantile FSHD. The secondary objectives are: - To determine the incidence and prevalence of infantile FSHD- To describe the genetic characteristics of infantile FSHD. - To…
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The main study parameter will be the description of the phenotype of
childhood-onset FSHD. Therefore we propose extensive qualitative and
quantitative measurements specified by age and use a modified format of the
International Classification of Functioning, Disability and Health criteria
(ICF-Y). ICF is the WHO framework for measuring health and disability at both
individual and population levels. The domaines are body structure, body
function, activities and participation and environmental factors.
Secondary outcome
Secondary outcome measures are:
- Prevalance and incidence estimations of infantile FSHD
- (epi)genetical changes
- Disease modifying factors
- extensive quantitative and qualitative genotype and fenotype
characterisation.
Background summary
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant
inherited muscular dystrophy with a characteristic distribution of weakness.
In >95% of the patients, FSHD is caused by a mutation on chromosome 4q35.
Although the genetic basis is very homogenous, there is remarkable inter- and
intrafamilial variability ranging from wheelchair bound individuals to
asymptomatic carriers. The most severely affected subgroup has a childhood
onset (first symptom before the age of 5) and extramuscular symptoms such as
epilepsy, hearing loss and mental retardation occur. There is very limited
knowledge on this severely affected subgroup, accounting for 2-15% of the total
patient population. Natural history, disease and longitudinal data on infantile
FSHD are essential for the design of best standard of care, therapeutic trials
and in assessment of genetic heterogeneity.
Study objective
The primary objective is to describe the clinical characteristics of infantile
FSHD.
The secondary objectives are:
- To determine the incidence and prevalence of infantile FSHD
- To describe the genetic characteristics of infantile FSHD.
- To identify (epi)genetic and environmental disease modifying factors that
contribute to the variable clinical phenotype of FSHD.
- To obtain a well-documented cohort of children with FSHD-patients to be
recruited for future clinical trials.
Study design
Explorative, cross-sectional, observational study.
Study burden and risks
Participants will be asked for a visit to the outpatient clinic at the
department of pediatric neurology. Their medical history will be taken, they
will undergo a clinical examination and their parents will be asked to fill out
questionnaires. Medical charts will be reviewed on FSHD history. Blood samples
will be collected for DNA- and RNA-analysis and gene expression profiling.
Also, participants will undergo a hearing test, muscle ultrasonogaphy,
fundoscopy and ECG-recording. We classify the risk of this study as negligible.
The investment for patients and their family is time.
Reinier Postlaan 4
Nijmegen 6500 HB
NL
Reinier Postlaan 4
Nijmegen 6500 HB
NL
Listed location countries
Age
Inclusion criteria
- Patients aged 0-17 with genetically proven FSHD1 (mutation on chromosome 4q35, leading to a reduced number of less than 10 D4Z4 subunits) or FSHD2 (SMCHD1 gene mutation on chromosome 18)
- Patients aged 0-17 with a clinical suspicion of FSHD. The clinical suspicion is defined as: based on the opinion of the treating medical specialist (paediatricians or neurologists) or children with delayed motor development with clinical weakness of the facial or upper-arm muscle.
Exclusion criteria
- Patients not able to visit the outpatient clinic at the Radboudumc
- If not genetically confirmed: clinical suspicion not confirmed by a specialized neuromuscular child neurologist.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL53213.091.15 |