Protocol Details

Family Studies in Metabolic Diseases and Mineral Metabolism

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	93-DK-0127
Sponsoring Institute	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Hypercalcemia; Multiple Endocrine Neoplasia (MEN); Familial Hypocalciuric Hypercalcemia; Hyperparathyroidism; Linkage Analysis
Recruitment Keyword(s)	None
Condition(s)	Hypercalcemia; Hyperparathyroidism; Multiple Endocrine Neoplasia
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Diabetes and Digestive and Kidney Diseases

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.

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Eligibility

INCLUSION CRITERIA

Patients with known or suspected metabolic disorders of such as MEN 1, MEN 1-like states, FHH, HPT-JT, FIH, FIC, PHP and their first degree relatives (parents, siblings and offspring) and spouses. For the most part only one index case in a family will be tested.

Pre-test counseling by an NIDDK investigator.

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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.

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. Position alcloning of the gene for multiple endocrineneoplasia-type 1. Science. 1997 Apr 18;276(5311):404-7.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Stephen J. Marx, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institutes of Health BLDG 10 ROOM 9C 103 9000 ROCKVILLE PIKE BETHESDA MD 20892-1802 (301) 496-5051 marxs@mail.nih.gov	Craig S. Cochran, R.N. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institutes of Health Building 10 Room 6-3940 10 Center Drive Bethesda, Maryland 20892 (301) 402-1880 craigc@bdg10.niddk.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001345

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