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| ID | Type | Description | Link |
|---|---|---|---|
| UCSD-782 |
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| Name | Class |
|---|---|
| University of California, San Diego | OTHER |
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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| ribose | Drug | |||
| thymidine | Drug | |||
| uridine | Drug |
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
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| Name | Affiliation | Role |
|---|---|---|
| Alice L. Yu | University of California, San Diego | Study Chair |
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| ID | Term |
|---|---|
| C535321 | 5-Nucleotidase syndrome |
| D008661 | Metabolism, Inborn Errors |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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| ID | Term |
|---|---|
| D012266 | Ribose |
| D013936 | Thymidine |
| D014529 | Uridine |
| ID | Term |
|---|---|
| D010429 | Pentoses |
| D009005 | Monosaccharides |
| D000073893 | Sugars |
| D002241 | Carbohydrates |
| D011741 |
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| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| Pyrimidine Nucleosides |
| D011743 | Pyrimidines |
| D006573 | Heterocyclic Compounds, 1-Ring |
| D006571 | Heterocyclic Compounds |
| D003853 | Deoxyribonucleosides |
| D009705 | Nucleosides |
| D009706 | Nucleic Acids, Nucleotides, and Nucleosides |
| D012263 | Ribonucleosides |