Back to resultsPhase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity
Primary Purpose
5'-Nucleotidase Syndrome
Status
Completed
Phase
Phase 2
Locations
Study Type
Interventional
Intervention
ribose
thymidine
uridine
Sponsored by
About this trial
This is an interventional treatment trial for 5'-Nucleotidase Syndrome focused on measuring 5'-nucleotidase syndrome, inborn errors of metabolism, rare disease
Eligibility Criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Complex syndrome with excessive skin fibroblast 5'-nucleotidase activity characterized by: Recurrent infection Seizure disorder Speech impairment Attention deficit and behavior problems --Prior/Concurrent Therapy-- Concurrent uridine and thymidine therapy allowed --Patient Characteristics-- Other: No pregnant women
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00004658
First Posted
February 24, 2000
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of California, San Diego
1. Study Identification
Unique Protocol Identification Number
NCT00004658
Brief Title
Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity
Study Type
Interventional
2. Study Status
Record Verification Date
December 2001
Overall Recruitment Status
Completed
Study Start Date
March 1995 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of California, San Diego
4. Oversight
5. Study Description
Brief Summary
OBJECTIVES: I. Evaluate the efficacy of oral ribose in patients with a complex 5'-nucleotidase syndrome who have not received uridine (UR) and thymidine (TDR).
II. Evaluate the efficacy of UR/oral ribose and UR/TDR. III. Evaluate the efficacy of oral ribose given in combination with UR/TDR.
Detailed Description
PROTOCOL OUTLINE: Newly identified patients receive ribose daily for 8 weeks. Patients who improve continue therapy. If improvement then reaches a plateau, uridine (UR) and thymidine (TDR) are added to the regimen.
Patients who receive no benefit after 8 weeks of ribose are treated with UR/TDR. Patients who improve after 8 weeks of this combination continue therapy.
Ribose is added to the treatment regimen for patients on UR/TDR at entry. At maximal improvement, TDR and UR are sequentially tapered.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
5'-Nucleotidase Syndrome
Keywords
5'-nucleotidase syndrome, inborn errors of metabolism, rare disease
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
ribose
Intervention Type
Drug
Intervention Name(s)
thymidine
Intervention Type
Drug
Intervention Name(s)
uridine
10. Eligibility
Sex
All
Minimum Age & Unit of Time
0 Years
Maximum Age & Unit of Time
21 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics-- Complex syndrome with excessive skin fibroblast 5'-nucleotidase activity characterized by: Recurrent infection Seizure disorder Speech impairment Attention deficit and behavior problems --Prior/Concurrent Therapy-- Concurrent uridine and thymidine therapy allowed --Patient Characteristics-- Other: No pregnant women
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Alice L. Yu
Organizational Affiliation
University of California, San Diego
Official's Role
Study Chair
12. IPD Sharing Statement
Learn more about this trial
Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity
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