Ignite Creation Date:
2024-05-05 @ 10:05 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001345
Status:
COMPLETED
Last Update Posted:
2023-01-20
First Post:
1999-11-03
Brief Title:
Studies of Inherited Diseases of Metabolism
Sponsor:
National Institute of Diabetes and Digestive and Kidney Diseases NIDDK
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Family Studies in Metabolic Diseases and Mineral Metabolism
Status:
COMPLETED
Status Verified Date:
2023-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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 FIHP 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 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 is mutated in most FHH kindreds a minority of kindreds with FHH have mutation of the GNA11 or AP2S1 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 CDC73HRPT2 gene PHP is characterized by parathyroid hormone resistance and one form is associated with mutations in the gene encoding the alpha subunit of 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 FIHP PHP and related disorders for the purpose of geneticanalysis and gene identification In most cases the procurement of specimens under this protocol will be at an off-site location Samples will be processed for extraction of DNA and RNA
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 93-DK-0127 | None | None | None |