A First in Human Study of RT001 in Patients With Friedreich's Ataxia

A Randomized, Double-blind, Controlled Study to Assess the Safety, Tolerability, and Pharmacokinetics of RT001 in Patients With Friedreich's Ataxia

The purpose of this study is to evaluate the safety, tolerability and pharmacokinetics of RT001 in patients with Friedreich's ataxia.

Study RT001-002 is a randomized, double-blind, controlled, ascending dose study to evaluate the safety, tolerability, pharmacokinetic, disease state, and exploratory endpoints in patients with Friedreich's ataxia after oral administration. The study includes 2 dose levels of RT001.

Inclusion Criteria:

1. Male or female 18 to 50 years of age
2. Medical history consistent with the symptoms of FRDA at ≤ 25 years of age
3. Homozygous for GAA repeat expansions in the Frataxin gene in the affected range for FRDA
4. FARS-Neurological score of 20-90 points
5. Ambulatory (with or without assistive device) and capable of performing assessments/evaluations
6. Body Mass Index ≤ 29.9 kg/m2
7. Agrees to dietary restrictions and agrees to receive calls from a dietary coach
8. Signed the informed consent form prior to entry into the study
9. Agrees to spend the required number of overnight clinic days
10. Able to provide the necessary repeated blood samples

Exclusion Criteria:

1. Received treatment with other experimental therapies within the last 30 days prior to the first dose
2. Known point mutation in the FXN gene
3. History of malignancies (other than basal cell carcinomas)
4. Impaired renal function at screening
5. Alanine transaminase (ALT) or aspartate transaminase (AST) laboratory values > 2 x upper limit of normal (ULN) at screening
6. Known hepatitis B surface antigen (HBsAg)-positive, or known or suspected active hepatitis C infection, or is known to be human immunodeficiency virus (HIV) positive
7. Female who is breastfeeding or has a positive pregnancy test
8. Male participant or female participant of child bearing potential, who is sexually active and unwilling/unable to use a medically acceptable and effective double barrier birth control method throughout the study
9. Unwilling or unable to comply with the requirements of the protocol
10. Clinically significant cardiac abnormalities at screening that, in the opinion of the Investigator, would make the patient unsuitable for enrollment
11. Diabetes mellitus (Type 1 or 2)
12. Suicidal ideation as determined by the Columbia-Suicide Severity Rating Scale
13. History, within the last 2 years, of alcohol abuse, significant mental illness, or physical opioid dependence
14. Cannot adhere to the dietary guidance required to be followed by the protocol
15. Cannot take the medication due to impairment in swallowing capsules