Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Description

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\>...

Conditions

Arterial Calcification Due to Deficiency of CD73

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Study Overview

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Study Details

Study overview

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\>...

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

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Condition
Arterial Calcification Due to Deficiency of CD73
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Participants under 1 month of age will not be seen at the NIH Clinical center because care is more readily proffered to older individuals at the Clinical Center.
  • * Participants over two years of age will not be admitted if they are medically unstable and do not require admission to the Clinical Center for diagnosis.
  • * Pregnant women are excluded.

Ages Eligible for Study

1 Month to 115 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Human Genome Research Institute (NHGRI),

William A Gahl, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)

Study Record Dates

N/A