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Trial record 2 of 89 for:    NIDDK endocrine and diabetes | Recruiting, Not yet recruiting, Available Studies

Studies of Inherited Diseases of Metabolism

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ClinicalTrials.gov Identifier: NCT00001345
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : October 22, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) )

Brief 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....


Condition or disease
Multiple Endocrine Neoplasia

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. MEN1, p15, p18, p21, and p27 are identified genes for MEN 1- 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 is mutated in of most FHH kindreds;a minority of kindreds with FHH have mutation of the GA11 or AP2S gene. HPT-JT is a distinctive subtype of familial isolated hyperparathyroidism that has combinations of parathyroid adenoma, parathyroid cancer, jaw tumor, uterus tumor, kidney tumor and kidney cysts. It is caused by mutation of the CDC73/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 kindreds with known or suspected MEN1, FHH, HPT-JT, FIH, PHP, and related disorders 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.

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Family Studies in Metabolic Diseases and Mineral Metabolism
Actual Study Start Date : August 19, 1993

Resource links provided by the National Library of Medicine


Group/Cohort
1
members of families that have had relatives diagnosed with a disease of mineral metabolism



Primary Outcome Measures :
  1. Evaluation of metabolic diseases [ Time Frame: Yearly ]
    Studies will be focused around forms of hereditary hypercalcemia, MEN1, FHH, HPT-JT, and FIHP as well as other disorders of mineral metabolism like PHP. In doing so, we will test the hypothesis that MEN1 and MEN1-like states develop as a result of a germ line mutation in MEN1 or a CDKI gene, define the mutations present in the affected members of MEN1 kindreds, and assess the frequency of such mutations in patients with apparently sporadic disease.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
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.@@@
Criteria
  • 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.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001345


Contacts
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Contact: Craig S Cochran, R.N. (301) 402-1880 craigc@bdg10.niddk.nih.gov
Contact: Jenny E Blau, M.D. (301) 827-1930 jenny.blau@nih.gov

Locations
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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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Investigators
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Principal Investigator: Jenny E Blau, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Additional Information:
Publications:
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Responsible Party: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov Identifier: NCT00001345     History of Changes
Other Study ID Numbers: 930127
93-DK-0127
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: October 22, 2019
Last Verified: August 27, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ):
Hypercalcemia
Multiple Endocrine Neoplasia (MEN)
Familial Hypocalciuric Hypercalcemia
Hyperparathyroidism
Linkage Analysis
Additional relevant MeSH terms:
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Endocrine Gland Neoplasms
Multiple Endocrine Neoplasia
Neoplasms
Neoplasms by Site
Endocrine System Diseases
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn