Friedreich AtaxiaNCT06496451
Measurement of Frataxin mRNA in Biofluids
An observational study of Friedreich Ataxia, run by University of Florida at 1 site in United States.
Trial summary
The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA). Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Spinal tap for CSF collection and Venipuncture for blood sample
- Type of treatment
- Injection or infusion
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Aug 2024to 14 Jan 2026
- 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 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: People living with Friedreich ataxia (FRDA)
Who may be able to join
- Patients with symptomatic Friedreich ataxia (men and women) related to documented biallelic GAA expansion in the FXN gene
- Age over 18 years
- No contraindication to spinal tap including any coagulopathy or local infections
- Competent to provide informed consent
Who cannot join
- Unable or unwilling to provide informed consent
- Any uncontrolled medical illness that may increase the risk of spinal tap such as ongoing infection as determined by the investigators
- FRDA related to an expansion in one allele and a conventional mutation on the other
- Positive pregnancy screening
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Measurement of Frataxin mRNA in NHP and Human Biofluids in Patients With Friedreich's Ataxia
The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA). The gene mutation in FRDA leads to low levels of the mRNA and then low levels of the protein frataxin that leads to the disease. Treatments being developed for FRDA have the ability increase these levels including in brain where it is needed. Currently, there is no accepted way to measure frataxin protein or the messenger RNA (from which the protein is made) in the spinal fluid that surrounds the brain. In our study, the investigators aim to measure frataxin mRNA in both the blood and CSF. The investigators will use our ability to isolate structures called exosomes from these fluids. Exosomes are tiny, microscopic sacs that are known to contain many important biological molecules, and the investigators are able to detect frataxin mRNA in CSF from patients with other illnesses and from non-diseased participants. The investigators believe that parallel studies of exosomes in blood and CSF from patients with FRDA can tell us as to whether the frataxin mRNA in the CSF or blood of FRDA patients can serve as a measure of frataxin production in the brain. With one participation visit the investigators will be able to study the relationship of frataxin mRNA levels in the participant\'s CSF and blood with measures of disease severity. If successful, this will provide an important tool to monitor treatments for FRDA that aim to increase frataxin production.
Read the detailed description
Overview of the Study Participants will complete the study during 2 visits (visit 1 and 2). Visit 1 can be combined with a routine clinic visit for care or research but also may be done remotely via Zoom. During visit 1, the investigators will fully explain the study and obtain the participant\'s informed consent. For remote visits, a copy of the consent will be emailed to the participant before the visit and the study team will schedule a time to discuss the consent. The informed consent will be reviewed in detail with the participant, and they will have an opportunity to ask any questions before signing the document and agreeing to the study. In either case, once the participant agrees to the study after being fully informed, they will sign the consent document and a copy of it will be provided to them after the investigator signs it.
Once informed consent has been obtained, the participant will either schedule visit 1 or begin visit 1 that day. Visit 1 will last no more than 2 hours and will involve the collection of clinical data and the collection of a blood sample. The participant will be asked to obtain lab work before visit 2, these labs will be to test the participant\'s blood for its ability to clot well. This lab work will be reviewed before visit 2. Visit 2 will take no more than 4 hours and will involve the collection of spinal fluid. The participant will need to be accompanied by a driver at visit 2.
Description of Study Procedures
Blood Work prior to scheduled visit (~30 minutes)
- will need to go to one of the University of Florida Health's (UF Health\'s) local labs in Gainesville, Florida (FL) to have blood work done before the scheduled visit 2. This blood work will ensure that the participant meet the inclusion criteria before the spinal tap.
Overall health and safety assessment (~30 minutes)
- The participant\'s birthdate, gender, contact information, health history, current medications, and allergies will be obtained. The information will be stored in the participant\'s study file.
- If the participant is a woman of childbearing potential, a urine sample will be tested to see if they are pregnant. If the test is positive, the participant will not be able to continue in the study.
- The participant\'s FRDA DNA test from their medical record will be assessed and a copy placed in the research folder. No additional genetic testing will be performed.
- Measurements such as the participant\'s height, weight, blood pressure, pulse, respiratory rate, and temperature will be obtained.
- A general physical examination will be done by the study physician
Neurological examination, modified Friedreich Ataxia Rating Scale (mFARS), and blood sample (~30 minutes)
- The study physician will perform a neurological examination and use this to rate the participant\'s ataxia severity in the mFARS scale.
- This will include examining the participant\'s eye movements, speech, strength of their muscles, sensation, coordination in their arms and legs and ability to stand and walk among other things.
- The participant will be asked questions regarding their activities of daily living for a questionnaire called FRDA activities of daily living scale (FARS ADL).
- A blood sample of approximately 5-10 milliliters (or 1-2 teaspoonfuls) will be obtained.
Spinal Tap (~3 hours)
- About 15 milliliters or 1 tablespoon of cerebrospinal fluid (CSF) will be collected though a test called a spinal tap.
- The spinal tap will be performed in the interventional radiology suite at the Neuromuscular hospital via x-ray fluoroscopy.
- This procedure uses X-ray (fluoroscopy) to visualize their low back spine so that the spinal tap needle can be placed in the spinal sac in the participant\'s low back under visual guidance. This can minimize discomfort and can help increase the success of the procedure in one attempt.
- The participant will be given local anesthesia to numb the area before collection.
- The participant will be asked to relax while laying down following the procedure for 1 to 2 hours before leaving.
- Conditions
- Friedreich Ataxia
- Being tested
- Spinal tap for CSF collection, Venipuncture for blood sample
- Keywords
- Friedreich's Ataxia, Frataxin
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Spinal tap for CSF collectionOther
A spinal tap will be done on you by your choice of bedside or in the "interventional radiology (IR) suite" in the Shands (Neuromedicine) hospital. This procedure will be done by trained technicians under medical supervision or the principal investigator. Local anesthesia will be used to numb the site of injection on your back. We plan to collect about 4 tablespoons of spinal fluid.
Venipuncture for blood sampleOther
a sample of blood (approximately 4-5 tablespoonfuls) will be collected
| Study group | Role | What they receive |
|---|---|---|
| Friedreich ataxia | Adult patients with genetically proven Friedreich ataxia Receives: Other: Spinal tap for CSF collection; Other: Venipuncture for blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of Frataxin mRNA in human biofluids
The study plans to measure frataxin mRNA in exosomes from blood and spinal fluid as a biomarker in Friedreich ataxia
Measured: One year from final collection date
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jul 2024
- Study start8 Aug 2024
- Primary completion14 Jan 2026
- Study completion14 Jan 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- 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
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance
- Responsible party
- Sponsor
- Investigators
- S H Subramony, M.D, Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06496451
- Sponsor's protocol ID
- 202301923
- Status last verified
- Jan 2026
- First submitted
- 3 Jul 2024
- Last updated
- 16 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Measurement of Frataxin mRNA in NHP and Human Biofluids in Patients With Friedreich's Ataxia
- ClinicalTrials.gov ID
- NCT06496451
- Acronym / sponsor ID
- 202301923
- Conditions
- Friedreich Ataxia
- Keywords
- Friedreich's Ataxia, Frataxin
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance
- Study start
- 8 Aug 2024 (actual)
- Primary completion
- 14 Jan 2026 (actual)
- Study completion
- 14 Jan 2026 (actual)
- First posted
- 11 Jul 2024 (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.
The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA). The gene mutation in FRDA leads to low levels of the mRNA and then low levels of the protein frataxin that leads to the disease. Treatments being developed for FRDA have the ability increase these levels including in brain where it is needed. Currently, there is no accepted way to measure frataxin protein or the messenger RNA (from which the protein is made) in the spinal fluid that surrounds the brain. In our study, the investigators aim to measure frataxin mRNA in both the blood and CSF. The investigators will use our ability to isolate structures called exosomes from these fluids. Exosomes are tiny, microscopic sacs that are known to contain many important biological molecules, and the investigators are able to detect frataxin mRNA in CSF from patients with other illnesses and from non-diseased participants. The investigators believe that parallel studies of exosomes in blood and CSF from patients with FRDA can tell us as to whether the frataxin mRNA in the CSF or blood of FRDA patients can serve as a measure of frataxin production in the brain. With one participation visit the investigators will be able to study the relationship of frataxin mRNA levels in the participant\'s CSF and blood with measures of disease severity. If successful, this will provide an important tool to monitor treatments for FRDA that aim to increase frataxin production.
Detailed description
Overview of the Study Participants will complete the study during 2 visits (visit 1 and 2). Visit 1 can be combined with a routine clinic visit for care or research but also may be done remotely via Zoom. During visit 1, the investigators will fully explain the study and obtain the participant\'s informed consent. For remote visits, a copy of the consent will be emailed to the participant before the visit and the study team will schedule a time to discuss the consent. The informed consent will be reviewed in detail with the participant, and they will have an opportunity to ask any questions before signing the document and agreeing to the study. In either case, once the participant agrees to the study after being fully informed, they will sign the consent document and a copy of it will be provided to them after the investigator signs it.
Once informed consent has been obtained, the participant will either schedule visit 1 or begin visit 1 that day. Visit 1 will last no more than 2 hours and will involve the collection of clinical data and the collection of a blood sample. The participant will be asked to obtain lab work before visit 2, these labs will be to test the participant\'s blood for its ability to clot well. This lab work will be reviewed before visit 2. Visit 2 will take no more than 4 hours and will involve the collection of spinal fluid. The participant will need to be accompanied by a driver at visit 2.
Description of Study Procedures
Blood Work prior to scheduled visit (~30 minutes)
- will need to go to one of the University of Florida Health's (UF Health\'s) local labs in Gainesville, Florida (FL) to have blood work done before the scheduled visit 2. This blood work will ensure that the participant meet the inclusion criteria before the spinal tap.
Overall health and safety assessment (~30 minutes)
- The participant\'s birthdate, gender, contact information, health history, current medications, and allergies will be obtained. The information will be stored in the participant\'s study file.
- If the participant is a woman of childbearing potential, a urine sample will be tested to see if they are pregnant. If the test is positive, the participant will not be able to continue in the study.
- The participant\'s FRDA DNA test from their medical record will be assessed and a copy placed in the research folder. No additional genetic testing will be performed.
- Measurements such as the participant\'s height, weight, blood pressure, pulse, respiratory rate, and temperature will be obtained.
- A general physical examination will be done by the study physician
Neurological examination, modified Friedreich Ataxia Rating Scale (mFARS), and blood sample (~30 minutes)
- The study physician will perform a neurological examination and use this to rate the participant\'s ataxia severity in the mFARS scale.
- This will include examining the participant\'s eye movements, speech, strength of their muscles, sensation, coordination in their arms and legs and ability to stand and walk among other things.
- The participant will be asked questions regarding their activities of daily living for a questionnaire called FRDA activities of daily living scale (FARS ADL).
- A blood sample of approximately 5-10 milliliters (or 1-2 teaspoonfuls) will be obtained.
Spinal Tap (~3 hours)
- About 15 milliliters or 1 tablespoon of cerebrospinal fluid (CSF) will be collected though a test called a spinal tap.
- The spinal tap will be performed in the interventional radiology suite at the Neuromuscular hospital via x-ray fluoroscopy.
- This procedure uses X-ray (fluoroscopy) to visualize their low back spine so that the spinal tap needle can be placed in the spinal sac in the participant\'s low back under visual guidance. This can minimize discomfort and can help increase the success of the procedure in one attempt.
- The participant will be given local anesthesia to numb the area before collection.
- The participant will be asked to relax while laying down following the procedure for 1 to 2 hours before leaving.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Friedreich ataxia | – | Other: Spinal tap for CSF collection, Other: Venipuncture for blood sampleAdult patients with genetically proven Friedreich ataxia |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- People living with Friedreich ataxia (FRDA)
Key inclusion criteria (4 listed)
- Patients with symptomatic Friedreich ataxia (men and women) related to documented biallelic GAA expansion in the FXN gene
- Age over 18 years
- No contraindication to spinal tap including any coagulopathy or local infections
- Competent to provide informed consent
Key exclusion criteria (4 listed)
- Unable or unwilling to provide informed consent
- Any uncontrolled medical illness that may increase the risk of spinal tap such as ongoing infection as determined by the investigators
- FRDA related to an expansion in one allele and a conventional mutation on the other
- Positive pregnancy screening
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 |
|---|---|---|
| Spinal tap for CSF collectionA spinal tap will be done on you by your choice of bedside or in the "interventional radiology (IR) suite" in the Shands (Neuromedicine) hospital. This procedure will be done by trained technicians under medical supervision or the principal investigator. Local anesthesia will be used to numb the site of injection on your back. We plan to collect about 4 tablespoons of spinal fluid. | Other | Friedreich ataxia |
| Venipuncture for blood samplea sample of blood (approximately 4-5 tablespoonfuls) will be collected | Other | Friedreich ataxia |
Primary outcome
Measurement of Frataxin mRNA in human biofluids
Time frame: One year from final collection date
The study plans to measure frataxin mRNA in exosomes from blood and spinal fluid as a biomarker in Friedreich ataxia
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 16 Jan 2026.
- Individual participant dataSharing planned: No
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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.
S H Subramony, M.D principal investigator
University of Florida
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 University of Florida 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 4 inclusion and 4 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 16 Jan 2026. 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?
Measurement of Frataxin mRNA in human biofluids (time frame: One year from final collection date). 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 16 Jan 2026.