FXN GeneBioFridANCT04548921
Biomarker for Friedreich's Ataxia (BioFridA)
An observational study of FXN Gene and FRDA, run by CENTOGENE GmbH Rostock at 1 site in Lebanon.
Trial 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 Read more about this study
- Who is it for?
- Ages 2 months to 50 years
- Conditions the study is for
- FXN Gene, FRDA, Hereditary Diseases
- How many people
- 1,000 participants
- Where
- 1 siteLebanon
- Study dates
- 1 Jul 2020to 31 Dec 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants with Friedreich's Ataxia
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Biomarker for Friedreich's Ataxia: An International, Multicenter, Observational, Longitudinal Protocol
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
Read the 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.
- Conditions
- FXN Gene, FRDA, Hereditary Diseases
- Keywords
- Friedreich's Ataxia, Biomarker
- Medical subject headings
- Friedreich Ataxia, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Friedreich's Ataxia | Participant diagnosed with Friedreich's Ataxia aged between 2 and 50 years of age |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 36 months
Secondary outcomes (1)
Exploring the clinical robustness, specificity, and long-term variability 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.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Sep 2020
- Study start1 Jul 2020
- Primary completion31 Dec 2023 (estimated)
- Study completion31 Dec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FXN GeneStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof. Dr., Study chair, CENTOGENE GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04548921
- Sponsor's protocol ID
- BioFridA 06-2020
- Acronym
- BioFridA
- Status last verified
- Aug 2022
- First submitted
- 8 Sep 2020
- Last updated
- 3 Aug 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarker for Friedreich's Ataxia: An International, Multicenter, Observational, Longitudinal Protocol
- ClinicalTrials.gov ID
- NCT04548921
- Acronym / sponsor ID
- BioFridA / BioFridA 06-2020
- Conditions
- FXN Gene, FRDA, Hereditary Diseases
- Keywords
- Friedreich's Ataxia, Biomarker
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 1 Jul 2020 (actual)
- Primary completion
- 31 Dec 2023 (estimated)
- Study completion
- 31 Dec 2023 (estimated)
- First posted
- 16 Sep 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Friedreich's Ataxia | – | –Participant diagnosed with Friedreich's Ataxia aged between 2 and 50 years of age |
Who may qualify
- Ages
- 2 months to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with Friedreich's Ataxia
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Exploring the clinical robustness, specificity, and long-term variability of Friedreich's Ataxia biomarker/s
Time frame: 36 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Aug 2022.
- CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patientsLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof. Dr. study chair
CENTOGENE GmbH
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of FXN Gene and FRDA, run by CENTOGENE GmbH Rostock at 1 site in Lebanon.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 3 Aug 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Lebanon. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of Friedreich's Ataxia biomarker/s (time frame: 36 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Aug 2022.