Phase 1 Friedreich Ataxia Trial, Recruiting

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

• People aged 12 to 50 years, both male and female.
• People who are willing and able to give informed consent (for those under 18, a parent or guardian would typically be involved — confirm with trial site).
• People who have a confirmed diagnosis of Friedreich's ataxia (FA), based on both their symptoms and a genetic test showing a GAA expansion on both copies of the relevant gene.
• People who have more than 600 GAA repeats in a specific part of the gene (intron 1) on at least one copy.
• People whose neurological test scores (FARS and SARA assessments) are consistent with a diagnosis of Friedreich's ataxia.
• People whose heart pumping function, measured by cardiac MRI, falls between 35% and 75% (this is called ejection fraction).
• People who show evidence of FA-related heart disease, meaning at least 2 of the following measurements are abnormal, and at least one of those must be an abnormal cardiac MRI heart muscle mass result or an abnormal exercise test result:
  • The heart muscle mass measured by cardiac MRI is above the normal range for the person's sex and age (in the absence of other causes).
  • A specific type of arm-crank exercise test shows an oxygen uptake (VO2 max) at or below 20 mL/kg/min, with peak VO2 at or above 10 mL/kg/min, and with a sufficient level of effort.
  • A cardiac MRI measurement called stroke volume index is below 45 mL/m².
  • A cardiac MRI measurement of how the heart muscle stretches (global longitudinal strain) is below 20%.
  • A blood test for a heart stress marker (high-sensitivity cardiac troponin) is above the normal range.
• People who have 10% or less scarring (fibrosis) in the heart wall, as seen on a cardiac MRI with a special dye (gadolinium).
• People whose blood oxygen level at rest is 95% or higher.
• People whose blood shows a low level of antibodies against the specific virus used to deliver the gene therapy (anti-AAVrh.10 titer less than 1:125) — confirm with trial site.
• People with a blood count (hematocrit) above 30%.
• People with white blood cell levels within the normal range.
• People with normal blood clotting test results.
• People with normal liver-related blood test results, a normal liver ultrasound, and a normal alpha fetoprotein level (a liver marker).
• People with normal kidney function based on blood tests, with an estimated filtration rate above 30 mL/min/1.73m².
• People with no signs of active infection, including hepatitis A, B, or C, HIV, or COVID-19 (SARS-CoV-2).
• People who are able to become pregnant or father a child must be willing to use barrier contraception (such as condoms) for up to 6 months after receiving the gene therapy.
• People who have not taken experimental medications or joined another experimental study for at least 12 weeks before entering this trial (people receiving approved treatments may still be eligible).
• People who are physically able to undergo a cardiac MRI scan.
• People who have no medical reasons preventing them from taking corticosteroid medications (a type of anti-inflammatory drug used to manage immune responses).

Who may not be able to join:

• People who are currently taking corticosteroids or other medicines that suppress the immune system.
• People with uncontrolled diabetes, indicated by a blood sugar control measure (HbA1c) above 7%.
• People whose FA genetic type involves a specific kind of mutation called a missense mutation on one or both copies of the gene.
• People who show signs of active infection, such as an elevated white blood cell count, a fever above 38.5°C, or an abnormal chest X-ray.
• People with severe heart failure symptoms (classified as New York Heart Association Class III or IV at the time of assessment).
• People with a hemoglobin level (a measure of red blood cells) below 10 g/dL.
• People with a very low level of a specific type of white blood cell called neutrophils (below 1,500 cells/mm³).
• People with a low platelet count (below 100,000 cells/mm³).
• People with serious heart rhythm problems that require medical treatment and affect blood flow.
• People who cannot safely have a cardiac MRI scan (for example, those with a pacemaker or defibrillator that is not MRI-compatible) or who cannot receive the MRI dye gadolinium (due to allergy or poor kidney function).
• People who have had any cancer in the last five years, with the exception of a common and easily treated form of skin cancer (basal cell carcinoma).
• People with a serious unrelated health condition where life expectancy is less than 12 months.
• People who have other conditions (unrelated to FA) known to cause thickening of the heart muscle, such as a narrowed heart valve (aortic stenosis), high blood pressure (140/90 or above), or a genetic heart muscle condition.
• People who currently require supplemental oxygen.
• People who are considered at risk for blood clots, including those hospitalised for a clotting event in the last 90 days, or those with a recent injury or surgery; people with an unclear history of blood clots may also be excluded if blood tests show specific genetic risk factors for clotting.
• People with any uncontrolled psychiatric condition.
• People who are pregnant or breastfeeding.
• People who have previously taken part in any gene therapy or cell therapy trial.
• People with known blockages in the heart's arteries, including a history of heart attack, prior procedures to open blocked arteries, significant chest pain symptoms, or confirmed major artery blockages seen on testing.
• People with any lung function problems that would affect the results of the exercise testing.
• People with any condition, disorder, or abnormal test result that, in the opinion of the study doctor, would put them at unacceptable risk, interfere with completing the study, or make the study results difficult to interpret.
• People who had COVID-19 and still have ongoing heart or lung problems related to that infection.
• People with a current problem with alcohol or drug addiction.

Important: Always verify eligibility with the trial site directly before applying.