Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Conditions

• Arterial Calcification Due to Deficiency of CD73

Eligibility Criteria

Sex

ALL

Age

1 Month - 115 Years

Healthy Volunteers

Accepted

Study Details

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\>

Key Dates

Start date

Sep 12, 1978

Status verified

Feb 2026

Study Design

Enrollment

4,000 participants (estimated)

Arms

• Arm: Healthy Volunteers
  Healthy Volunteers
• Arm: Patients
  Patients with unique disorders
• Arm: Unaffected family members
  Unaffected family members of patients

Primary Outcome Measure

Clinical phenotyping [ Time Frame: years to decades followup ]

Central Contacts

• William A Gahl, M.D.
  (301) 402-2739
  [email protected]

Locations (1)

Find similar trials in Bethesda, MD