Phase II Study of Ribose, Uridine, and Thymidine for a Complex Syndrome Involving Excessive 5'-Nucleotidase Activity

This study has been completed.
University of California, San Diego
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: December 2001

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.

Condition Intervention Phase
5'-Nucleotidase Syndrome
Drug: ribose
Drug: thymidine
Drug: uridine
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Study Start Date: March 1995
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.


Ages Eligible for Study:   up to 21 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


--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

  Contacts and Locations
Please refer to this study by its identifier: NCT00004658

Sponsors and Collaborators
University of California, San Diego
Study Chair: Alice L. Yu University of California, San Diego
  More Information

No publications provided Identifier: NCT00004658     History of Changes
Other Study ID Numbers: 199/11828, UCSD-782
Study First Received: February 24, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
5'-nucleotidase syndrome
inborn errors of metabolism
rare disease

Additional relevant MeSH terms:
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases processed this record on April 14, 2014