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Home > "S" Clinical Trials Conditions > Studies of Inherited Diseases of Metabolism  Studies of Inherited Diseases of Metabolism
Studies of Inherited Diseases of Metabolism
For Condition: Hypercalcemia,Hyperparathyroidism,Multiple Endocrine Neoplasia
Status: Recruiting
Sponsor(s): National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ,
Synopsis: 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.
Details: Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial benign) hypercalcemia (FHH), hyperparathyroidism - jaw tumor syndrome (HPT-JT), other causes of familial hyperparathyroidism (FH) and pseudohypoparathyroidism (PHP) are disorders that affect mineral metabolism and 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 on chromosome 11q13 was cloned in 1997. 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 been noted to have mutations in this gene. HPT-JT is distinctive subtype of familial hyperparathyroidism (FH) 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 located on chromosome 20q13. We are continuing to collect blood samples and tissue samples from affected and unaffected members of known and suspected MEN1, FHH, HPT-JT, FH and PHP related kindreds for the purpose of genetic analysis and gene indentification. In most cases, the procurement of specimens will be at an off-site location. Samples will be processed for extraction of DNA and/or the creation of transformed cell lines. This will provide a ready source of DNA and other molecules for genetic analysis to delineate the genetic and molecular basis of these disorders. As genetic analyses reveal conclusive information about these disorders, genetic counseling is being offered to the individual family members who have provided the specimens.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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.
Total Enrollment: 999
Location and Contact Information:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 930127; 93-DK-0127
Study Start Date: April 19, 1993
Record last reviewed: March 16, 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001345
Other Multiple Endocrine Neoplasia Studies:
1. Comparison of Two Methods of Parathyroidectomy for Primary Hyperparathyroidism
2. A Randomized Study of Surgery vs No Surgery in Patients with Mild Asymptomatic Primary Hyperparathyroidism
3. Using X-Ray Dye to Locate Hidden Parathyroid Tumors
4. Studies of Elevated Parathyroid Activity
5. A Study of an Investigational Medication for Severe Primary Hyperparathyroidism or Parathyroid Cancer
Related Studies:
Other Multiple Endocrine Neoplasia Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Studies of Inherited Diseases of Metabolism
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