Ignite Creation Date:
2024-07-17 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 3:34 PM
Study NCT ID:
NCT06496451
Status:
RECRUITING
Last Update Posted:
2024-07-11
First Post:
2024-07-03
Brief Title:
Frataxin mRNA in Biofluids
Sponsor:
University of Florida
Organization:
University of Florida
Study Overview
Official Title:
Measurement of Frataxin mRNA in NHP and Human Biofluids
Status:
RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 Friedreichs 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 participant39s 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 participant39s 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 participant39s 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 Healths UF Health39s 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 participant39s birthdate gender contact information health history current medications and allergies will be obtained The information will be stored in the participant39s 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 participant39s 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 participant39s 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 participant39s ataxia severity in the mFARS scale
This will include examining the participant39s 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 participant39s 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
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 participant39s 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 Healths UF Health39s 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 participant39s birthdate gender contact information health history current medications and allergies will be obtained The information will be stored in the participant39s 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 participant39s 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 participant39s 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 participant39s ataxia severity in the mFARS scale
This will include examining the participant39s 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 participant39s 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None