Ignite Creation Date:
2024-05-06 @ 3:10 PM
Last Modification Date:
2024-10-26 @ 1:44 PM
Study NCT ID:
NCT04548921
Status:
UNKNOWN
Last Update Posted:
2022-08-03
First Post:
2020-09-08
Brief Title:
Biomarker for Friedreichs Ataxia BioFridA
Sponsor:
CENTOGENE GmbH Rostock
Organization:
CENTOGENE GmbH Rostock
Study Overview
Official Title:
Biomarker for Friedreichs Ataxia An International Multicenter Observational Longitudinal Protocol
Status:
UNKNOWN
Status Verified Date:
2022-08
Last Known Status:
ENROLLING_BY_INVITATION
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
BioFridA
Brief Summary:
International multicenter observational longitudinal monitoring study to identify biomarkers for Friedreichs Ataxia and to explore the clinical robustness specificity and long-term variability of these biomarkers
Detailed Description:
An ataxia is neurological disorder of balance and coordination resulting from dysfunctions of the cerebellum Friedreichs ataxia FRDA is most common ataxia in white population with an estimated prevalence of 2-4 cases per 100000 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 variants 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 Friedreichs 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 biomarkers
FRDA is an autosomal recessive disorder caused by pathogenic variants 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 Friedreichs 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 biomarkers
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None