Clinical Trials

Open studies conducted by NIDDK Principal Investigators appear below. Study statuses may include the following:

Open: Recruiting - Currently recruiting participants and open to everyone who meets eligibility criteria.
Open: Active, Not Recruiting - Participants are receiving an intervention or being examined, however new participants are not being recruited or enrolled.
Open: Enrolling by Invitation - People in a particular population were selected in advance and invited to participate. The study is not open to everyone who meets the eligibility criteria.
Open: Available for Expanded Access - Patients who are not participants in the clinical study may be able to gain access to the drug, biologic, or medical device being studied.

Studies Seeking Patients

Studies of Inherited Diseases of Metabolism

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 Recruiting.

Investigator: Smita Jha, M.D.

Referral Contacts: Craig S Cochran, R.N. (301) 402-1880