To generate a large, international Friedreich*s ataxia patient database (including healthy controls), alongside an integrated clinical and natural history database, which is linked to a biological samples and imaging repository, hereby creating a…
ID
Source
Brief title
Condition
- Movement disorders (incl parkinsonism)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Build and study a large cohort of Friedreich ataxia patients, to develop and
discover new clinical, motor, imaging and biochemical markers and to infer a
model of disease evolution in Friedreich Ataxia.
Secondary outcome
x
Background summary
Friedreich*s ataxia (FA) is the most frequent early-onset autosomal recessive
hereditary ataxia. The GAA-repeat expansion leads to a progressive
neurodegenerative disease, characterized by progressive (sensory) ataxia,
spasticity and sensomotor polyneuropathy. Hypertrophic cardiomyopathy and
diabetes mellitus often occur in association with the disease. Patients
gradually lose coordination and are frequently wheelchair bound as adolescents.
There is no disease modifying therapy and average life expectancy ranges from
40 to 50 years, with many patients dying prematurely of cardiomyopathy.
Friedreich*s ataxia is a rare disease, leaving single hospitals to have limited
options for clinical or genetic research. By coordinating their efforts, EFACTS
gathers vital information about the progression of Friedreich*s ataxia which
can be delivered to patients to give them a better knowledge of their prognosis
and the development of their condition.
Study objective
To generate a large, international Friedreich*s ataxia patient database
(including healthy controls), alongside an integrated clinical and natural
history database, which is linked to a biological samples and imaging
repository, hereby creating a large trial-ready cohort for possible future
intervention studies.
Study design
Longitudinal cohort study with annual visits.
Study burden and risks
The burden for participants consists of annual visits, including a neurological
examination, several questionnaires taking a blood sample. Optional are
undergoing a MRI or cardiac evaluation. All measurements are without
significant side effects (*negligible risk*).
These type of natural history cohorts are important for increasing
understanding of the disease and provide viable information for future trials
with possible disease-modifying therapies.
Templergraben 55
Aachen 52062
DE
Templergraben 55
Aachen 52062
DE
Listed location countries
Age
Inclusion criteria
Genetic conformation of Friedreich Ataxia
Exclusion criteria
no genetically confirmed diagnosis of Friedreich*s ataxia (except control
participants)
acute or ongoing severe and unstable medical or other conditions that would
interfere with the conduct and assessments of the study
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 |
|---|---|
| ClinicalTrials.gov | NCT02069509 |
| CCMO | NL86151.091.24 |