Friedreich AtaxiaNCT05028764
Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers
An observational study of Friedreich Ataxia and Healthy Volunteers, run by Larimar Therapeutics, Inc. at 1 site in United States.
Trial summary
To examine range of tissue frataxin (FXN) concentrations, specific ribonucleic acids, other proteins and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without Friedreich's ataxia (FRDA). Read more about this study
- Who is it for?
- Ages 18 to 50 yearsHealthy volunteers can take part
- Conditions the study is for
- Friedreich Ataxia, Healthy Volunteers
- What is being tested?
- Buccal Swabs, Blood Draws and Skin Punch Biopsy
- How many people
- 60 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Aug 2021to 4 Feb 2022
- 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 18 to 50 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Subjects will be recruited from the community.
Who may be able to join
- Subject is a healthy male or female,18-50 years of age
- Subject has a body mass index (BMI) ≥18.0 and ≤32.0 as of the screening visit.
- Subject is racially Caucasian, Asian, Native Hawaiian, or Native American.
Who cannot join
- Subject used erythropoietin, etravirine, or gamma interferon within 3 months prior to the Day 1 (assessment) visit.
- Subject has a chronic condition that requires ongoing prescription drug treatment.
- Subject use of any statin medications within 3 months before the Day 1 (assessment) visit.
- Subject use of any lipid-lowering agents, other than statins, within 6 weeks before the Day 1 (assessments) visit.
- Subject is racially black or African American.
- Pregnant or breast-feeding female subjects.
Show all 9Show fewer
- Subject has a known history of drug or alcohol abuse or current suspected drug or alcohol abuse.
- Subject is positive for human immunodeficiency virus (HIV), hepatitis C virus (HCV), hepatitis B surface antigen (HBsAg), or hepatitis A virus (HAV).
- Subject has any condition, disease, or situation, that in the opinion of the principal investigator (PI), could confound the results of the study or put the subject at undue risk, making participation inadvisable.
Trial locations and contacts
1 site in 1 country.
United States1 site
Clinilabs Drug Development Corporation
Eatontown, New Jersey, 07724
About this study
Official title: A Study to Determine the Range of Tissue Frataxin Concentrations and Other Potential Biomarkers for Friedreich's Ataxia in Normal Healthy Volunteers
To examine range of tissue frataxin (FXN) concentrations, specific ribonucleic acids, other proteins and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without Friedreich's ataxia (FRDA).
Read the detailed description
Primary Objective: To examine the range of tissue frataxin (FXN) concentrations in the buccal cells, blood, and skin cells of normal healthy volunteers without FRDA.
Secondary Objective: To examine the range of specific ribonucleic acids (RNAs), other proteins, and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without FRDA.
- Conditions
- Friedreich Ataxia, Healthy Volunteers
- Being tested
- Buccal Swabs, Blood Draws and Skin Punch Biopsy
- 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, Blood Draws and Skin Punch BiopsyDiagnostic test
Buccal Swabs - FXN and specific RNA markers; Blood Draws - Lipid panel, Protein Marker Analysis and Gene RNA Analysis; Skin Punch Biopsy - Protein Markers
| Study group | Role | What they receive |
|---|---|---|
| 18 to 30 years of age group | Consisting of at least 13 males and 13 females Receives: Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch Biopsy | |
| 31 to 50 years of age group | Consisting of at least 13 males and 13 females Receives: Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Examine tissue frataxin concentrations in buccal cells, blood and skin cells
Range of tissue frataxin levels in buccal cells, blood and skin cells
Measured: 1 day
Secondary outcomes (1)
Examine specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood
Range of specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood
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 posted31 Aug 2021
- Study start4 Aug 2021
- Primary completion4 Feb 2022
- Study completion4 Feb 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)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 only
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Larimar Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Clinilabs, Inc.
- Responsible party
- Sponsor
- Investigators
- Magdy Shenouda, M.D., Principal investigator, Clinilabs, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05028764
- Sponsor's protocol ID
- CLIN-1601-002
- Status last verified
- Feb 2022
- First submitted
- 25 Aug 2021
- Last updated
- 24 Feb 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8.
PubMed 20675166
Study at a glance
From the registry record, last updated by the sponsor on 24 Feb 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Determine the Range of Tissue Frataxin Concentrations and Other Potential Biomarkers for Friedreich's Ataxia in Normal Healthy Volunteers
- ClinicalTrials.gov ID
- NCT05028764
- Acronym / sponsor ID
- CLIN-1601-002
- Conditions
- Friedreich Ataxia, Healthy Volunteers
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Larimar Therapeutics, Inc.Industry (pharma, biotech, devices)
- Collaborators
- Clinilabs, Inc.
- Study start
- 4 Aug 2021 (actual)
- Primary completion
- 4 Feb 2022 (actual)
- Study completion
- 4 Feb 2022 (actual)
- First posted
- 31 Aug 2021 (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 examine range of tissue frataxin (FXN) concentrations, specific ribonucleic acids, other proteins and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without Friedreich's ataxia (FRDA).
Detailed description
Primary Objective: To examine the range of tissue frataxin (FXN) concentrations in the buccal cells, blood, and skin cells of normal healthy volunteers without FRDA.
Secondary Objective: To examine the range of specific ribonucleic acids (RNAs), other proteins, and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without FRDA.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 18 to 30 years of age group | – | Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch BiopsyConsisting of at least 13 males and 13 females |
| 31 to 50 years of age group | – | Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch BiopsyConsisting of at least 13 males and 13 females |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Subjects will be recruited from the community.
Key inclusion criteria (3 listed)
- Subject is a healthy male or female,18-50 years of age
- Subject has a body mass index (BMI) ≥18.0 and ≤32.0 as of the screening visit.
- Subject is racially Caucasian, Asian, Native Hawaiian, or Native American.
Key exclusion criteria (9 listed)
- Subject used erythropoietin, etravirine, or gamma interferon within 3 months prior to the Day 1 (assessment) visit.
- Subject has a chronic condition that requires ongoing prescription drug treatment.
- Subject use of any statin medications within 3 months before the Day 1 (assessment) visit.
- Subject use of any lipid-lowering agents, other than statins, within 6 weeks before the Day 1 (assessments) visit.
- Subject is racially black or African American.
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, Blood Draws and Skin Punch BiopsyBuccal Swabs - FXN and specific RNA markers; Blood Draws - Lipid panel, Protein Marker Analysis and Gene RNA Analysis; Skin Punch Biopsy - Protein Markers | Diagnostic test | 18 to 30 years of age group, 31 to 50 years of age group |
Primary outcome
Examine tissue frataxin concentrations in buccal cells, blood and skin cells
Time frame: 1 day
Range of tissue frataxin levels in buccal cells, blood and skin cells
1 secondary outcome
Examine specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood
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 24 Feb 2022.
- Background: PubMed 20675166Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8.
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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.
Magdy Shenouda, M.D. principal investigator
Clinilabs, Inc.
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 and Healthy Volunteers, 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 3 inclusion and 9 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 24 Feb 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 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?
Examine tissue frataxin concentrations in buccal cells, blood and skin cells (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 NCT05028764, which also lists 1 linked publication.
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 24 Feb 2022.