Biomarker for Friedreich's Ataxia (BioFridA) (BioFridA)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT04548921|
Recruitment Status : Recruiting
First Posted : September 16, 2020
Last Update Posted : September 16, 2020
|Condition or disease|
|FXN Gene FRDA Hereditary Diseases|
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.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Biomarker for Friedreich's Ataxia: An International, Multicenter, Observational, Longitudinal Protocol|
|Actual Study Start Date :||July 1, 2020|
|Estimated Primary Completion Date :||December 31, 2023|
|Estimated Study Completion Date :||December 31, 2023|
Participants with Friedreich's Ataxia
Participant diagnosed with Friedreich's Ataxia aged between 2 and 50 years of age
- Identification of Friedreich's Ataxia biomarker/s [ Time Frame: 36 months ]All samples will be analyzed for the identification of potential biomarkers via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s.
- Exploring the clinical robustness, specificity, and long-term variability of Friedreich's Ataxia biomarker/s [ Time Frame: 36 months ]All samples will be analyzed for the identification of potential biomarkers via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04548921
|Contact: Volha Skrahina, PhD||+49 (0)38180113594||Volha.Skrahina@centogene.com|
|American University of Science and Technology||Recruiting|
|Beirut, Lebanon, 16-6452|
|Contact: Andre Megarbane, MD +961 1421630 email@example.com|
|Principal Investigator: Andre Megarbane, MD|
|Principal Investigator:||Arndt Rolfs, Prof. Dr.||CENTOGENE GmbH|