An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia

• ClinicalTrials.gov Identifier: NCT01921868
• Recruitment Status: Unknown
• First Posted: August 13, 2013
• Last Update Posted: April 12, 2016
• Sponsor: University of South Florida
• Information provided by (Responsible Party): Theresa Zesiewicz, University of South Florida

Tracking Information

• First Submitted Date: July 3, 2013
• First Posted Date: August 13, 2013
• Last Update Posted Date: April 12, 2016
• Study Start Date: August 2013
• Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: March 18, 2014)

• To observe the changes in cardiac functioning in patients with Friedreich's Ataxia between study endpoint and baseline. [ Time Frame: Every 12 months, up to 24 months ]
• To assess the changes in Friedreich's Ataxia symptoms and severity (as measured by clinical rating scales) compared to baseline. [ Time Frame: Every 6 months, up to 24 months ]

Original Primary Outcome Measures (submitted: August 9, 2013)

• To observe the changes in cardiac functioning in patients with Friedrich's Ataxia between study endpoint and baseline. [ Time Frame: Every 12 months, up to 24 months ]
• To assess the changes in Friedrich's Ataxia symptoms and severity (as measured by clinical rating scales) compared to baseline. [ Time Frame: Every 6 months, up to 24 months ]

Current Secondary Outcome Measures (submitted: August 9, 2013)

• Changes in patient global impression of improvement [ Time Frame: Every 6 months, up to 24 months ]
• Changes in Time 25-foot Walk [ Time Frame: Every 6 months, up to 24 months ]
• Changes in frequency and severity of adverse events [ Time Frame: Every 6 months, up to 24 months ]
• Changes in patient quality of life (SF-36) [ Time Frame: Every 6 months, up to 24 months ]
• Changes in clinical global impression of improvement [ Time Frame: Every 6 months, up to 24 months ]

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia
• Official Title: An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia
• Brief Summary: The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedreich's Ataxia as well as how it may affect other symptoms of Friedreich's Ataxia such as difficulties with balance, walking, or upper arm function.
• Detailed Description: This study is an open label, pilot study of ALCAR in subjects with FA. In this study 20 patients with FA will receive ALCAR every day for 24 months. At the study endpoint, subjects will be assessed for changes in cardiovascular outcomes and FA symptoms. To determine the effects of LC on changes in cardiomyopathy, echocardiography with strain rate will be calculated. This technique has been validated in clinical studies and used in other studies of FA patients for the comparison of regional deformation and myocardial wall thickness.
• Study Type: Interventional
• Study Phase: Not Applicable
• Study Design: Allocation: N/A; Intervention Model: Single Group Assignment; Masking: None (Open Label); Primary Purpose: Treatment
• Condition: Friedreich's Ataxia

Intervention

Drug: Acetyl-L-Carnitine

Acetyl-L-Carnitine, 2 g/day, up to 24 months.

Other Name: ALCAR

Study Arms

Experimental: Acetyl-L-Carnitine

Open-label administration of Acetyl-L-Carnitine, up to 2 g/day for 24 months.

Intervention: Drug: Acetyl-L-Carnitine

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Unknown status
• Estimated Enrollment (submitted: August 9, 2013): 20
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: June 2017
• Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

1. Outpatients with Friedreich's Ataxia diagnosed by a movement disorder specialist and confirmed by genetic testing (of the patient or in a first degree relative of the patient). Subject may be non-ambulatory.
2. Age 18 years to 80 years.
3. Stable medical condition for 3 months prior to screening.
4. Women of child-bearing potential must use a reliable method of contraception and must provide a negative pregnancy test at entry into the study.
5. If on cardiac medications such as beta-blockers or ace inhibitors, patients must be on a stable dose for 6 months prior to study entry and for the duration of the study.
6. Friedreich's Ataxia patients with systolic or diastolic dysfunction present on echocardiogram and ejection fraction between 35% - 65% at screening.
7. Subjects with ejection fractions < 50% need to be stable and on optimal heart failure therapy for at least 2 weeks prior to screening.

Exclusion Criteria:

1. Any unstable illness or concomitant medical condition that, in the investigator's opinion, precludes participation in this study. This includes other disorders that may affect gait or balance (stroke, arthritis, etc).
2. Pregnancy or lactation.
3. Concurrent participation in another clinical study where use of an investigational product is used. Subjects who are currently enrolled in the Friedreich's Ataxia Clinical Outcome Measures Study at any site will be allowed to enroll in this study as well.
4. Any use of the investigational product within the past 30 days.
5. Dementia or other psychiatric illness that prevents the patient from giving informed consent (Mini Mental Status Exam score less than 25).
6. Legal incapacity or limited legal capacity.
7. History of stroke.
8. Subjects with a history of thyroid disease (hypothyroidism). Clinical laboratory evaluations of thyroid stimulating hormone levels taken 3 months prior to the study or at screening will be used to confirm absence of current thyroid problems.
9. Subjects with a history of seizures.
10. Subjects taking warfarin or acenocoumarol.
11. Presence of severe renal disease (estimated creatinine clearance <50 mL/min) or hepatic disease (AST or Alanine transaminase(ALT)>2x times normal) (as evidenced by labs reported within the past 6 months).
12. Clinically significantly abnormal white blood cell, hemoglobin or platelet count (as evidenced by labs reported within the past 6 months).

13. Subjects with blood work showing carnitine deficiency (<60nmol/mg total carnitine in the urine or <35umol/L total carnitine in the plasma).

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Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years to 80 Years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT01921868
• Other Study ID Numbers: ALCAR-8499
• Has Data Monitoring Committee: No
• U.S. FDA-regulated Product: Not Provided
• IPD Sharing Statement: Not Provided
• Current Responsible Party: Theresa Zesiewicz, University of South Florida
• Original Responsible Party: Same as current
• Current Study Sponsor: University of South Florida
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

• Principal Investigator: Theresa A Zesiewicz, MD; University of South Florida

• PRS Account: University of South Florida
• Verification Date: April 2016