NIH Clinical Research Studies

Protocol Number: 93-DK-0127

Active Accrual, Protocols Recruiting New Patients

Title:
Family Studies in Metabolic Diseases and Mineral Metabolism
Number:
93-DK-0127
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.

Sponsoring Institute:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA

Patients with known or suspected disorders of mineral metabolism such as MEN 1, FHH, HPT-JT, FH, PHP and their first degree relatives (parents, siblings and offspring) and spouses.

Pre-test counseling by an NIDDK investigator.

Special Instructions: Currently Not Provided
Keywords:
Hypercalcemia
Multiple Endocrine Neoplasia (MEN)
Familial Hypocalciuric Hypercalcemia
Hyperparathyroidism
Linkage Analysis
Recruitment Keywords:
None
Conditions:
Hypercalcemia
Hyperparathyroidism
Multiple Endocrine Neoplasia
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
Receptor-effector coupling by G proteins; implications for normal and abnormal signal transduction

Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr, Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore). 1981 Nov;60(6):397-412. No abstract available. PMID: 7311809

Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1.

Science. 1997 Apr 18;276(5311):404-7. PMID: 9103196

Active Accrual, Protocols Recruiting New Patients

If you have:


Command Menu Bar

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home


Clinical Center LogoWarren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/19/2004

Search The Studies Help Questions