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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: 0
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)

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

ELIGIBILITY 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.

Patient has possible form of familial hyperparathyroidism. Or case is a clinically unaffected first degree relative of such a patient.

There is no lower age limit to enter a clinically affected minor into the study. However, asymptomatic and possibly unaffected cases will not be enrolled.

A pregnant woman could be included in aspects of the research study that present no greater than minimal risk to patient or fetus, such as DNA testing of maternal blood.


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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:

Smita Jha, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 9C432A
10 CENTER DR
BETHESDA MD 20814
(301) 827-1930
smita.jha@nih.gov

Craig S. Cochran, R.N.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 5
Room 1604
5 Center Drive
Bethesda, Maryland 20892
(301) 402-1880
craigc@bdg10.niddk.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001345

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