Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00369421|
Recruitment Status : Recruiting
First Posted : August 29, 2006
Last Update Posted : September 28, 2022
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 Deficiency of CD73|
|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|
Patients with unique disorders
Unaffected family members
Unaffected family members of patients
- Clinical phenotyping [ Time Frame: years to decades followup ]Clinical characterization.
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) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||William A Gahl, M.D.||National Human Genome Research Institute (NHGRI)|