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

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

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.

Study Overview

• Status: Completed
• Conditions: Fragile X Tremor/Ataxia Syndrome
• Intervention / Treatment: Drug: citocoline

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Actual): 10
• Phase: Phase 2

Contacts and Locations

Study Locations

• United States
  • Illinois
    • Chicago, Illinois, United States, 60612
      • Rush University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 90 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Citocoline; The intervention will be 1000mg of citicoline in capsule form once daily.	Drug: citocoline; 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.; Other Names: CDP-choline

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Rush University Medical Center

Publications and helpful links

General Publications

• Hall DA, Robertson EE, Leehey M, McAsey A, Ouyang B, Berry-Kravis E, O'Keefe JA. Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS). PLoS One. 2020 Feb 13;15(2):e0225191. doi: 10.1371/journal.pone.0225191. eCollection 2020.

Study record dates

Study Major Dates

• Study Start: January 1, 2015
• Primary Completion (Actual): January 1, 2017
• Study Completion (Actual): January 1, 2017

Study Registration Dates

• First Submitted: July 14, 2014
• First Submitted That Met QC Criteria: July 18, 2014
• First Posted (Estimate): July 22, 2014

Study Record Updates

• Last Update Posted (Actual): November 2, 2022
• Last Update Submitted That Met QC Criteria: November 1, 2022
• Last Verified: November 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Disease; Dyskinesias; Cerebellar Diseases; Syndrome; Ataxia; Tremor; Cerebellar Ataxia; Molecular Mechanisms of Pharmacological Action; Antimetabolites; Gastrointestinal Agents; Hypolipidemic Agents; Lipid Regulating Agents; Nootropic Agents; Lipotropic Agents; Choline
• Other Study ID Numbers: CITO-123