Friedreich AtaxiaNCT04255680
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
An observational study of Friedreich Ataxia, run by Larimar Therapeutics, Inc. at 1 site in United States.
Trial summary
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA. Read more about this study
- Who is it for?
- Ages 12 to 65 years
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Buccal Swabs and Blood Draws
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Jan 2020to 30 Jun 2020
- 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 12 to 65 years
- All sexes
- Child, Adult, Older adult
Study population: FRDA patients will be recruited using the Principal Investigator's (PI's) clinical practice. Control patients will be obtained through family members or friends of affected individuals, as well as non-FRDA patients in the PI's practice.
Who may be able to join
- Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only).
- Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects.
- Subject (and/or parent/legal guardian) has voluntarily signed consent form.
- Willingness and ability to comply with all study procedures.
- Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only).
Who cannot join
- Treatment with an investigational product within 30 days of study.
- Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day.
- Use of any statin medications within 90 days of the specimen collection day.
- Use of any lipid-lowering agents within 6 weeks of the specimen collection day.
- Use of daily biotin supplementation that exceeds 30 mcg/day, either as part of a multivitamin or as a standalone supplement, within 7 days of the study visit.
- Pregnant women.
Trial locations and contacts
1 site in 1 country.
United States1 site
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA.
Read the detailed description
Primary Objective:
The primary objective of this study is to identify whether frataxin levels and specific RNAs and proteins in blood and buccal cells differ between patients with FRDA and controls.
Secondary Objective:
The secondary objectives of this study are:
- To understand the variability of frataxin and specific RNAs and proteins identified in buccal cells.
- To correlate levels of frataxin and specific RNAs and proteins with features of FRDA.
- To correlate levels of frataxin and specific RNAs and proteins with triglycerides, high density lipoprotein (HDL), low density lipoprotein (LDL) levels, and other lipids.
- Conditions
- Friedreich Ataxia
- Being tested
- Buccal Swabs and Blood Draws
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Buccal Swabs and Blood DrawsDiagnostic test
Buccal Swabs - Frataxin \& specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis
| Study group | Role | What they receive |
|---|---|---|
| FRDA Subjects | Male and female subjects with FRDA confirmed by genetic testing (aim for a 50:50 distribution of males to females) Receives: Diagnostic Test: Buccal Swabs and Blood Draws | |
| Controlled Subjects | Male and female control subjects (matched by age [+/- 2 years] and sex) Receives: Diagnostic Test: Buccal Swabs and Blood Draws |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference in frataxin levels, specific RNAs and proteins
Difference in frataxin levels, specific RNAs and proteins between FRDA patients and control patients.
Measured: 1 day
Secondary outcomes (3)
Variability in frataxin levels, specific RNAs and proteins
Variability in frataxin levels, specific RNAs and proteins between FRDA patients and control patients.
Measured: 1 day
Correlation of frataxin levels, specific RNAs and proteins in FRDA patients
Correlation of frataxin levels, specific RNAs and proteins with features of FRDA in patients with FRDA.
Measured: 1 day
Correlation of frataxin levels, specific RNAs and proteins
Correlation of frataxin levels, specific RNAs and proteins with triglycerides, HDL, LDL and other lipid levels between FRDA patients and control patients.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2020
- Study start14 Jan 2020
- Primary completion30 Jun 2020
- Study completion30 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Friedreich AtaxiaStudies 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Larimar Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Children's Hospital of Philadelphia
- Responsible party
- Sponsor
- Investigators
- David Lynch, M.D., Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04255680
- Sponsor's protocol ID
- CLIN-1601-001
- Status last verified
- Aug 2020
- First submitted
- 3 Feb 2020
- Last updated
- 18 Aug 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Sacca F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526.
PubMed 22162061Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet. 2009 Jul 1;18(13):2452-61. doi: 10.1093/hmg/ddp183. Epub 2009 Apr 17.
PubMed 19376812
Study at a glance
From the registry record, last updated by the sponsor on 18 Aug 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
- ClinicalTrials.gov ID
- NCT04255680
- Acronym / sponsor ID
- CLIN-1601-001
- Conditions
- Friedreich Ataxia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Larimar Therapeutics, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Children's Hospital of Philadelphia
- Study start
- 14 Jan 2020 (actual)
- Primary completion
- 30 Jun 2020 (actual)
- Study completion
- 30 Jun 2020 (actual)
- First posted
- 5 Feb 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.
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA.
Detailed description
Primary Objective:
The primary objective of this study is to identify whether frataxin levels and specific RNAs and proteins in blood and buccal cells differ between patients with FRDA and controls.
Secondary Objective:
The secondary objectives of this study are:
- To understand the variability of frataxin and specific RNAs and proteins identified in buccal cells.
- To correlate levels of frataxin and specific RNAs and proteins with features of FRDA.
- To correlate levels of frataxin and specific RNAs and proteins with triglycerides, high density lipoprotein (HDL), low density lipoprotein (LDL) levels, and other lipids.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| FRDA Subjects | – | Diagnostic Test: Buccal Swabs and Blood DrawsMale and female subjects with FRDA confirmed by genetic testing (aim for a 50:50 distribution of males to females) |
| Controlled Subjects | – | Diagnostic Test: Buccal Swabs and Blood DrawsMale and female control subjects (matched by age [+/- 2 years] and sex) |
Who may qualify
- Ages
- 12 to 65 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- FRDA patients will be recruited using the Principal Investigator's (PI's) clinical practice. Control patients will be obtained through family members or friends of affected individuals, as well as non-FRDA patients in the PI's practice.
Key inclusion criteria (5 listed)
- Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only).
- Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects.
- Subject (and/or parent/legal guardian) has voluntarily signed consent form.
- Willingness and ability to comply with all study procedures.
- Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only).
Key exclusion criteria (6 listed)
- Treatment with an investigational product within 30 days of study.
- Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day.
- Use of any statin medications within 90 days of the specimen collection day.
- Use of any lipid-lowering agents within 6 weeks of the specimen collection day.
- Use of daily biotin supplementation that exceeds 30 mcg/day, either as part of a multivitamin or as a standalone supplement, within 7 days of the study visit.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Buccal Swabs and Blood DrawsBuccal Swabs - Frataxin \& specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis | Diagnostic test | Controlled Subjects, FRDA Subjects |
Primary outcome
Difference in frataxin levels, specific RNAs and proteins
Time frame: 1 day
Difference in frataxin levels, specific RNAs and proteins between FRDA patients and control patients.
3 secondary outcomes
Variability in frataxin levels, specific RNAs and proteins
Time frame: 1 day
Correlation of frataxin levels, specific RNAs and proteins in FRDA patients
Time frame: 1 day
Correlation of frataxin levels, specific RNAs and proteins
Time frame: 1 day
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Aug 2020.
- Background: PubMed 22162061Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Sacca F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526.
- Background: PubMed 19376812Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet. 2009 Jul 1;18(13):2452-61. doi: 10.1093/hmg/ddp183. Epub 2009 Apr 17.
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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.
David Lynch, M.D. principal investigator
Children's Hospital of Philadelphia
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 Friedreich Ataxia, run by Larimar Therapeutics, Inc. at 1 site in United States.
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 5 inclusion and 6 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: finished, as of the sponsor's last update on 18 Aug 2020. 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 United States. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Difference in frataxin levels, specific RNAs and proteins (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04255680, which also lists 2 linked publications.
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 18 Aug 2020.