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Biomarker for Friedreich's Ataxia (BioFridA)

Sponsor
CENTOGENE GmbH Rostock (Industry)
Overall Status
Enrolling by invitation
CT.gov ID
NCT04548921
Collaborator
(none)
1,000
Enrollment
1
Location
42
Anticipated Duration (Months)
23.8
Patients Per Site Per Month

Study Details

Study Description

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 Intervention/Treatment Phase

    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.

    Study Design

    Study Type:
    Observational
    Anticipated 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 :
    Jul 1, 2020
    Anticipated Primary Completion Date :
    Dec 31, 2023
    Anticipated Study Completion Date :
    Dec 31, 2023

    Arms and Interventions

    Arm Intervention/Treatment
    Participants with Friedreich's Ataxia

    Participant diagnosed with Friedreich's Ataxia aged between 2 and 50 years of age

    Outcome Measures

    Primary Outcome Measures

    1. Identification of Friedreich's Ataxia biomarker/s [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 [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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    2 Months to 50 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 American University of Science and Technology Beirut Lebanon 16-6452

    Sponsors and Collaborators

    • CENTOGENE GmbH Rostock

    Investigators

    • Study Chair: Peter Bauer, Prof. Dr., CENTOGENE GmbH

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    None provided.
    Responsible Party:
    CENTOGENE GmbH Rostock
    ClinicalTrials.gov Identifier:
    NCT04548921
    Other Study ID Numbers:
    • BioFridA 06-2020
    First Posted:
    Sep 16, 2020
    Last Update Posted:
    Aug 3, 2022
    Last Verified:
    Aug 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by CENTOGENE GmbH Rostock
    Friedreich's Ataxia
    Biomarker
    Additional relevant MeSH terms:
    Ataxia
    Friedreich Ataxia
    Genetic Diseases, Inborn

    Study Results

    No Results Posted as of Aug 3, 2022