Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
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|ClinicalTrials.gov Identifier: NCT00369421|
Recruitment Status : Recruiting
First Posted : August 29, 2006
Last Update Posted : November 23, 2020
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>
|Condition or disease|
|Arterial Calcification Due to CD73-Deficiency (ACDC)|
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. Individual patients seen under this protocol have prompted the establishment of specific disease-related protocols involving intensive natural history studies and innovative therapies. In the past, this protocol provided an avenue for admitting patients as part of the NIH Undiagnosed Diseases Program (UDP). Currently, this protocol continues its
longstanding role in investigating individuals who are of interest to the Section on
Human Biochemical Genetics or to the protocol s Associate Investigators.
|Study Type :||Observational|
|Estimated Enrollment :||4000 participants|
|Official Title:||Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders|
|Actual Study Start Date :||September 12, 1978|
- Clinical phenotyping [ Time Frame: years to decades followup ]Clinical characterization
- Molecular genotyping [ Time Frame: Years to decades ]Molecular genotyping.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00369421
|Contact: William A Gahl, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||William A Gahl, M.D.||National Human Genome Research Institute (NHGRI)|