Studies of Inherited Diseases of Metabolism
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|ClinicalTrials.gov Identifier: NCT00001345|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : April 13, 2021
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.
|Condition or disease|
|Multiple Endocrine Neoplasia|
|Study Type :||Observational|
|Estimated Enrollment :||2000 participants|
|Official Title:||Family Studies in Metabolic Diseases and Mineral Metabolism|
|Actual Study Start Date :||August 19, 1993|
members of families that have had relatives diagnosed with a disease of mineral metabolism
- Evaluation of metabolic diseases [ Time Frame: Yearly ]Studies will be focused around forms of hereditary hypercalcemia, MEN1, FHH, HPT-JT, and FIHP as well as other disorders of mineral metabolism like PHP. In doing so, we will test the hypothesis that MEN1 and MEN1-like states develop as a result of a germ line mutation in MEN1 or a CDKI gene, define the mutations present in the affected members of MEN1 kindreds, and assess the frequency of such mutations in patients with apparently sporadic disease.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001345
|Contact: Craig S Cochran, R.N.||(301) firstname.lastname@example.org|
|Contact: Smita Jha, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Smita Jha, M.D.||National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)|