Citocoline for Treatment in Fragile X-associated Tremor/Ataxia Syndrome

The purpose of this study was to determine if citicoline was safe for the treatment of tremor and balance abnormalities and to stabilize cognitive decline in patients with fragile X-associated tremor ataxia syndrome. Ten participants with diagnosed FXTAS were administered 1000 mg of citicoline once daily for 12 months. Outcome measures and neurological examination were performed at baseline, 3 months, 6 months, and 12 months. The primary outcome was safety. Secondary outcomes included change in FXTAS Rating Scale score, a battery of neuropsychological tests, an instrumented Timed up and go test, computerized dynamic posturography, 9-hole pegboard test, and balance confidence and psychiatric symptom questionnaires.

Inclusion criteria

• Clinical diagnosis of FXTAS

• Serum creatine kinase, complete metabolic panel, complete blood count, liver function tests, renal function tests, platelets and EKG are within normal limits

Exclusion criteria

• Legal incapacity or limited legal capacity
• Presence of severe renal disease (BUN 50% greater than normal or creatinine clearance <60 mL/min) or hepatic disease.
• Abnormal creatine kinase and/or platelet count in the past 6 months (as determined by lab reports obtained from primary care physicians or conducted at baseline).
• Women of childbearing potential who are pregnant at the time of screening or who will not use adequate protection during participation of the study.
• Allergy/sensitivity to the drug of its formulations.
• Concurrent participation in another clinical study.
• Active substance use or dependence.
• Serious illness (requiring systematic treatment/or hospitalization) until the subject either completes therapy or is clinically stable on therapy, in the opinion of the site investigator, for at least 60 days prior to study entry.
• Inability or unwillingness of the subject or legal guardian/representative to give written informed consent.