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

NCT01921868 | Unknown

• 1 other identifier: ALCAR-8499
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Friedreich's Ataxia

Outcome Measures

Primary Outcomes (2)

• To observe the changes in cardiac functioning in patients with Friedreich's Ataxia between study endpoint and baseline.

  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.

  Every 6 months, up to 24 months

Secondary Outcomes (5)

• Changes in patient global impression of improvement

  Every 6 months, up to 24 months

• Changes in Time 25-foot Walk

  Every 6 months, up to 24 months

• Changes in frequency and severity of adverse events

  Every 6 months, up to 24 months

• Changes in patient quality of life (SF-36)

  Every 6 months, up to 24 months

• Changes in clinical global impression of improvement

  Every 6 months, up to 24 months

Study Arms (1)

Acetyl-L-Carnitine

EXPERIMENTAL

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

Drug: Acetyl-L-Carnitine

Interventions

Acetyl-L-Carnitine DRUG

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

Also known as: ALCAR

Acetyl-L-Carnitine

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.
• Age 18 years to 80 years.
• Stable medical condition for 3 months prior to screening.
• Women of child-bearing potential must use a reliable method of contraception and must provide a negative pregnancy test at entry into the study.
• 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.
• Friedreich's Ataxia patients with systolic or diastolic dysfunction present on echocardiogram and ejection fraction between 35% - 65% at screening.
• Subjects with ejection fractions \< 50% need to be stable and on optimal heart failure therapy for at least 2 weeks prior to screening.

You may not qualify if:

• 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).
• Pregnancy or lactation.
• 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.
• Any use of the investigational product within the past 30 days.
• Dementia or other psychiatric illness that prevents the patient from giving informed consent (Mini Mental Status Exam score less than 25).
• Legal incapacity or limited legal capacity.
• History of stroke.
• 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.
• Subjects with a history of seizures.
• Subjects taking warfarin or acenocoumarol.
• 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).
• Clinically significantly abnormal white blood cell, hemoglobin or platelet count (as evidenced by labs reported within the past 6 months).
• Subjects with blood work showing carnitine deficiency (\<60nmol/mg total carnitine in the urine or \<35umol/L total carnitine in the plasma).

Sponsors & Collaborators

• University of South Florida: lead

Study Sites (1)

University of South Florida

Tampa, Florida, 33612, United States

RECRUITING

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

Acetylcarnitine

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Carnitine; Trimethyl Ammonium Compounds; Quaternary Ammonium Compounds; Amines; Organic Chemicals

Study Officials

• Theresa A Zesiewicz, MD

  University of South Florida

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Tanya Aranca, BS

CONTACT

813-974-5909; taranca@health.usf.edu

Jessica Shaw, MPH

CONTACT

813-974-5909; jshaw@health.usf.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Director of USF Ataxia Research Center

Study Record Dates

• First Submitted: July 3, 2013
• First Posted: August 13, 2013
• Study Start: August 1, 2013
• Primary Completion: June 1, 2017
• Study Completion: June 1, 2017
• Last Updated: April 12, 2016

Record last verified: 2016-04

Locations

US (1)