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Studies of Inherited Diseases of Metabolism

NCT00001345 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 969

Last updated 2023-01-20

No results posted yet for this study

Summary

Diseases of mineral metabolism such as familial multiple endocrine neoplasia type 1 (FMEN1), familial hypocaliuric hypercalcemia (FHH), familial hyperparathyroidism (FH), and pseudohypoparathyroidism (PHP) are known as hereditary abnormalities. Meaning these conditions are passed from parents to their children through genes. These specific conditions result in abnormal levels of calcium in the blood.

This study was designed to help researchers understand more about the genes that are responsible for these disorders. By learning more about the genetic process involved in hereditary abnormalities, new tests and treatments can be developed.

Subjects for this study will be members of families that have had relatives diagnosed with a disease of mineral metabolism. Participants will be asked to give blood samples for DNA extraction. DNA is the part of cells that carries genetic information.

The DNA will be analyzed and the results given to the subjects. Genetic counseling will be provided to subjects to aid in interpreting their results....

Conditions

  • Multiple Endocrine Neoplasia

Sponsors & Collaborators

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

    lead NIH

Principal Investigators

  • Smita Jha, M.D. · National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1993-08-19
Primary Completion
2023-01-13
Completion
2023-01-13

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001345 on ClinicalTrials.gov