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

Study Overview
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Brief Summary
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The objective of this study is to determine if citocoline is effective for balance abnormalities and to stabilize cognitive decline in patients with fragile X-associated tremor ataxia syndrome. The study will test 1000mg twice daily of citocoline for 12 months in an open label pilot study, with study visits at baseline, 3, 6, and 12 months.

Detailed Description
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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.

Official Title
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Phase 2 Study of Citocoline for Treatment in Fragile X-associated Tremor/Ataxia Syndrome

Conditions
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Fragile X Tremor/Ataxia Syndrome

Intervention / Treatment
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* Drug: citocoline


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Citocoline<br>The intervention will be 1000mg of citicoline in capsule form once daily. | Drug: citocoline<br>* Ten subjects will receive 1,000mg once daily of citicoline. Each subject will stay on the study drug for 12 months. The outcome measures will be assessed at baseline and then again at the end of month 3, month 6, and month 12. The subjects will continue taking the same study drug at the same dose throughout the entire trial.<br>* Other names: CDP-choline;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| FXTAS Rating Scale Score | The FXTAS Rating Scale (FXTAS-RS), which was designed to measure the severity of motor signs in FXTAS patients, was administered to each participant. The FXTAS-RS was designed to measure the severity of motor signs of FXTAS, tremor, ataxia, and parkinsonism. The scale was developed from a combination of three separate measures: the Clinical Rating Scale for Tremor (CRST), the International Cooperative Ataxia Rating Scale (ICARS), and the Unified Parkinson's Disease Rating Scale (UPDRS). The resultant scale has 44 items and a possible total score of 0-226. A higher score indicates worse symptoms. For this study, improvement was defined as a 20% improvement on the FXTAS-RS. | 12 months |