Completed

Age: 4Years +
All Genders
ID00001345

Family Studies in Metabolic Diseases and Mineral Metabolism

Led by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) · Updated on 2023-01-20

969

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

Studies of Inherited Diseases of Metabolism

Who Can Participate

Age: 4Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • ELIGIBILITY CRITERIA:

    1. Patient has possible form of familial hyperparathyroidism. Or case is a clinically unaffected first degree relative of such a patient.
    2. The lower age limit to enter a clinically affected minor into the study is >= 4 years old. However, asymptomatic and possibly unaffected cases will not be enrolled, and blood will not be drawn, before age 5 years in MEN1, MEN1-like, HPT-JT, or FIHP kindreds or before age 10 in FHH kindreds.
Not Eligible

You will not qualify if you...

History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety

Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Status Unknown

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How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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Published Research Related To This Trial

Family Studies in Metabolic Diseases and Mineral Metabolism | DecenTrialz