Biomarker for Friedreich's Ataxia (BioFridA)

NCT04548921 | Unknown DMC

• 1 other identifier: BioFridA 06-2020
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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

Conditions

FXN Gene; FRDA; Hereditary Diseases

Keywords

Friedreich's Ataxia; Biomarker

Outcome Measures

Primary Outcomes (1)

• Identification of Friedreich's Ataxia biomarker/s

  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.

  36 months

Secondary Outcomes (1)

• Exploring the clinical robustness, specificity, and long-term variability of Friedreich's Ataxia biomarker/s

  36 months

Study Arms (1)

Participants with Friedreich's Ataxia

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

Eligibility Criteria

• Age: 2 Months - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Participants with Friedreich's Ataxia

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (1)

American University of Science and Technology

Beirut, 16-6452, Lebanon

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Friedreich Ataxia; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Peter Bauer, Prof. Dr.

  CENTOGENE GmbH

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 8, 2020
• First Posted: September 16, 2020
• Study Start: July 1, 2020
• Primary Completion: December 31, 2023
• Study Completion: December 31, 2023
• Last Updated: August 3, 2022

Record last verified: 2022-08

Locations

LE (1)