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.
The trial is Open with a status of Active, not recruiting.