NCT00369421

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 4,000 (estimated)
• Sponsor: National Human Genome Research Institute (NHGRI) · NIH
• Sex: All
• Age: 1 Month – 115 Years
• Healthy volunteers: Accepted

Summary

Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Patients participating in this study will be examined and treated on an out patient basis, if practical. However, patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary. Researchers will use only accepted medical procedures in diagnosing (medical history, physical examinations, X-ray studies, eye examinations, blood tests, and urine tests) and treating the patients involved in this study. Additional tests may be required on a case to case basis. Many patients seen in this study will go on to be enrolled in a specific disease-related research study.\<TAB\>

Detailed description

Study Description: We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Objectives: The overall aim of this protocol is to advance our knowledge of genetic disorders.

Conditions

• Arterial Calcification Due to Deficiency of CD73

Timeline

• Start date: 1978-09-12
• First posted: 2006-08-29
• Last updated: 2026-04-14

Locations

1 site across 1 country: United States