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Biomarker for Friedreich's Ataxia (BioFridA) (BioFridA)

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ClinicalTrials.gov Identifier: NCT04548921
Recruitment Status : Recruiting
First Posted : September 16, 2020
Last Update Posted : September 16, 2020
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief 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

Condition or disease
FXN Gene FRDA Hereditary Diseases

Detailed 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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort
Participants with Friedreich's Ataxia
Participant diagnosed with Friedreich's Ataxia aged between 2 and 50 years of age



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Participants with Friedreich's Ataxia
Criteria

Inclusion Criteria:

  • Informed consent is obtained from the participant or parent/ legal guardian
  • The participant is aged between 2 and 50 years of age
  • The diagnosis of Friedreich's Ataxia (FRDA) is genetically confirmed by CENTOGENE

Exclusion Criteria:

  • Informed consent is not obtained from the participant and parent/ legal guardian
  • The participant is younger than 2 years or older than 50 years of age
  • The diagnosis of FRDA is not genetically confirmed by CENTOGENE

Information from the National Library of Medicine

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


Contacts
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Contact: Volha Skrahina, PhD +49 (0)38180113594 Volha.Skrahina@centogene.com

Locations
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Lebanon
American University of Science and Technology Recruiting
Beirut, Lebanon, 16-6452
Contact: Andre Megarbane, MD    +961 1421630    andre.megarbane@yahoo.fr   
Principal Investigator: Andre Megarbane, MD         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
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Principal Investigator: Arndt Rolfs, Prof. Dr. CENTOGENE GmbH
Additional Information:
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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT04548921    
Other Study ID Numbers: BioFridA 06-2020
First Posted: September 16, 2020    Key Record Dates
Last Update Posted: September 16, 2020
Last Verified: September 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Friedreich's Ataxia
Biomarker
Additional relevant MeSH terms:
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Ataxia
Friedreich Ataxia
Genetic Diseases, Inborn
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Mitochondrial Diseases
Metabolic Diseases