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Sponsored by: |
University of Texas Southwestern Medical Center |
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Information provided by: | University of Texas Southwestern Medical Center |
ClinicalTrials.gov Identifier: | NCT00765531 |
The hypothesis of this study proposal is that pediatric urinary stone formers have genetic risk factors which predispose their urinary stone production. 50-60% of pediatric stone patients have a positive family history of urinary stone disease. Several genetic mutations have been identified which predispose patients to various types of urinary stones. These genetic mutations can also lead to other significant sequela besides stones, including osteopenia/osteoporosis (bone loss). Furthermore, metabolic abnormalities can be identified in more than 50% of pediatric stone formers, some of which can be improved/alleviated with medical intervention to help decrease rate of stone formation and the need for hospitalization and surgical intervention.
Condition | Intervention |
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Hypercalciuria Calcium Stone Disease |
Radiation: Radiological testing Genetic: Pediatric Urologic DNA and History Repository |
Study Type: | Expanded Access |
Official Title: | Hypercalciuria and Calcium Stone Disease in Caucasian Patients |
All Stone Forming Patients and their families will undergo one of three groups of testing:
Testing 1 - This testing form involves using a specimen from the Pediatric Urologic Blood, Tissue, Urine, Serum, and DNA Repository.
Testing 2 - Involves complete in-patient evaluation at UT Southwestern GCRC for patients with hypercalciuria and their families.
Testing 3 - Involves simple out-patient evaluation for patients with hypercalciuria and their family members.
Ages Eligible for Study: | 4 Years to 20 Years |
Genders Eligible for Study: | Both |
Inclusion Criteria:
Exclusion Criteria:
Contact: Linda A. Baker, MD | 214-456-2467 | Linda.Baker@UTSouthwestern.edu |
Responsible Party: | University of Texas Southwestern Medical School ( Linda A. Baker, M.D. ) |
Study ID Numbers: | 1101-577 |
Study First Received: | September 30, 2008 |
Last Updated: | October 30, 2008 |
ClinicalTrials.gov Identifier: | NCT00765531 |
Health Authority: | United States: Institutional Review Board |
To determine the prevalence of genetic mutations in a population. To identify stone formers with significant family history of stones. To follow a cohort of pediatric stone formers an their families to report the long-term recurrence rats and therapeutic outcomes. |
Calcium, Dietary Signs and Symptoms Hypercalciuria Calculi Recurrence |
Urological Manifestations |