Clinical Trial Details
— Status: Enrolling by invitation
Administrative data
| NCT number |
NCT04548921 |
| Other study ID # |
BioFridA 06-2020 |
| Secondary ID |
|
| Status |
Enrolling by invitation |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
July 1, 2020 |
| Est. completion date |
December 31, 2023 |
Study information
| Verified date |
August 2022 |
| Source |
CENTOGENE GmbH Rostock |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
International, multicenter, observational, longitudinal monitoring study to identify
biomarker/s for Friedreich's Ataxia and to explore the clinical robustness, specificity, and
long-term variability of these biomarker/s
Description:
An ataxia is neurological disorder of balance and coordination resulting from dysfunctions of
the cerebellum. Friedreich's ataxia (FRDA) is most common ataxia in white population, with an
estimated prevalence of 2-4 cases per 100,000 individuals. With an average age of onset of
10-15 years, the disease is characterized by dysarthria, deep sensory loss, hypertrophic
cardiomyopathy, spinocerebellar ataxia, pyramidal weakness, diabetes mellitus, and skeletal
abnormalities.
FRDA is an autosomal recessive disorder caused by pathogenic variant/s in the FXN gene, which
encodes the mitochondrial protein frataxin. In 98% of cases these are homozygous
guanine-adenine-adenine (GAA) triplet repeat expansions in the first intron of the FXN gene.
The remaining cases are compound heterozygotes for a GAA repeat expansion plus a FXN point
mutation or deletion. GAA repeat expansions suppress transcription of the FXN gene, leading
to frataxin deficiency.
Until now there is no FDA-approved therapy for FRDA, but potential agents for treatment are
in developing phases. As such, especially antioxidants like idebenone are tested in clinical
trials as FRTA medication, whereas another study identified p38 inhibitors as potential
therapeutic agents. Various clinical rating scales including the Scale for the Assessment and
Rating of Ataxia (SARA), Friedreich's Ataxia Rating Scale (FARS), and the International
Cooperative Ataxia Rating Scale (ICARS) have been used as trial endpoints in FRDA, but these
measurements have limited sensitivity to disease progression over 12 months. Furthermore,
there are no validated, objective central or peripheral nervous system biomarkers of disease
progression for use in clinical trials as intermediate endpoints.
It is the goal of the BioFridA study to identify, validate, and monitor FRDA biomarker/s.
