Studies of Inherited Diseases of Metabolism

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001345
First received: November 3, 1999
Last updated: April 1, 2014
Last verified: March 2014
  Purpose

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
Hypercalcemia
Hyperparathyroidism
Multiple Endocrine Neoplasia

Study Type: Observational
Official Title: Family Studies in Metabolic Diseases and Mineral Metabolism

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 99999999
Study Start Date: April 1993
Detailed Description:

Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial benign) hypercalcemia (FHH), hyperparathyroidism jaw tumor syndrome (HPT-JT), other causes of familial isolated hyperparathyroidism (FIH), and pseudohypoparathyroidism (PHP) are disorders of metabolism that are generally inherited in an autosomal dominant fashion. MEN1 is characterized by overgrowth and hyperfunction of the parathyroids, anterior pituitary and gastrointestinal endocrine tissue. The gene for MEN1 was cloned in 1997. P15, p18, p 21 are other genes for MEN1-like states. FHH is characterized by a usually benign syndrome sometimes mistaken for typical primary hyperparathyroidism, which may result in unnecessary and unsuccessful parathyroid surgery. The CASR gene for the calcium-sensing receptor of the parathyroid cell was cloned, and members of most FHH kindreds have mutations in this gene. HPT-JT is a distinctive subtype of familial isolated hyperparathyroidism (FIH) that has combinations of parathyroid adenoma, parathyroid cancer, jaw tumor, kidney tumor and kidney cysts. It is caused by mutation of the HRPT2 gene. PHP is characterized by parathyroid hormone resistance, and one form is associated with mutations in the gene encoding the stimulatory G protein. We are continuing to collect blood and tissue samples from affected and unaffected members of known and suspected MEN1, FHH, HPT-JT, FIH, PHP, and related kindreds for the purpose of genetic analysis and gene identification. In most cases, the procurement of specimens will be at an off-site location. Samples will be processed for extraction of DNA and RNA.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • 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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001345

Contacts
Contact: Craig S Cochran, R.N. (301) 402-1880 craigc@bdg10.niddk.nih.gov
Contact: Stephen J Marx, M.D. (301) 496-5051 marxs@mail.nih.gov

Locations
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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Stephen J Marx, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00001345     History of Changes
Other Study ID Numbers: 930127, 93-DK-0127
Study First Received: November 3, 1999
Last Updated: April 1, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Hypercalcemia
Multiple Endocrine Neoplasia (MEN)
Familial Hypocalciuric Hypercalcemia
Hyperparathyroidism
Linkage Analysis

Additional relevant MeSH terms:
Multiple Endocrine Neoplasia
Neoplasms
Endocrine Gland Neoplasms
Hypercalcemia
Hyperparathyroidism
Neoplasms by Site
Endocrine System Diseases
Calcium Metabolism Disorders
Metabolic Diseases
Water-Electrolyte Imbalance
Parathyroid Diseases
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 27, 2014