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NCT00001345 · ClinicalTrials.gov registry record
Studies of Inherited Diseases of Metabolism
A clinical trial, sponsored by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
- Completed
- Registry status
- 969
- Enrollment target
NCT00001345: Completed study, sponsored by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
NCT00001345 is a clinical trial that has completed, run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The registered enrollment target is 969 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00001345 has completed, sponsored by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
- COMPLETED
- Registry status
- 969 participants
- Enrollment target
Study 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....
Primary Outcome
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.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 969 participants |
| Start Date | 1993-08-19 |
| Est. Completion | 2023-01-13 |
What the finished NCT00001345 record still lists
NCT00001345 is an observational study that tracks outcomes without assigning an intervention. The registered 969 participants enrollment target is mid-sized for trials with a published cap.
The record links to 0 conditions, and to 0 interventions.
NCT00001345 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT00001345 about?
NCT00001345 is a clinical study titled "Studies of Inherited Diseases of Metabolism". 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 the...
What is the current status of trial NCT00001345?
This trial is currently completed. The enrollment target is 969 participants. The study started on 1993-08-19. Estimated completion is 2023-01-13.
Who is sponsoring clinical trial NCT00001345?
This trial is sponsored by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), which has 490 total clinical trials registered on ClinicalTrials.gov.
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