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ClinicalTrials.gov Identifier: NCT00765531
Expanded Access Status :
First Posted : October 3, 2008
Last Update Posted : January 17, 2019
University of Texas Southwestern Medical Center
Information provided by (Responsible Party):
Linda A Baker, University of Texas Southwestern Medical Center
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 and/or alleviated with medical intervention to help decrease rate of stone formation and the need for hospitalization and surgical intervention.
Condition or disease
Radiation: Radiological testingGenetic: Pediatric Urologic DNA and History Repository
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Ages Eligible for Study:
4 Years to 20 Years (Child, Adult)
Sexes Eligible for Study:
Male and female patients of all races with a history of stone formation before age 20 years, patients with a history of stone formation between the ages of 4 and 19 years will be included regardless of current age or gender, healthy family members (>4 years of age to 75 years) of the probands will be invited to participate in the study and will be characterized as an affected or unaffected patient by the testing, and sex- and age-matched pediatric normal volunteers will also be recruited as controls.
Patients will be excluded with voiding dysfunction or metabolic disorders including renal tubular acidosis, chronic renal insufficiency, intestinal malabsorption (inflammatory bowel disease, history of ileal resection or bladder augmentation, and cystic fibrosis), hyperparathyroidism, prolonged immobilization, vitamin D excess, hpercalcemia, hypophosphatasia, Bartter's syndrome, high dose steroid therapy, prematurity, and chronic lasix use. Any child with a bleeding diathesis or who is immunocompromised will be excluded given the increased risks of drawing blood. Participants who have been on anti-seizure medication such as Topamax or other lithogenic drugs and anti-seizure medication will be excluded.
Keywords provided by Linda A Baker, University of Texas Southwestern Medical Center:
Determine prevalence of genetic mutations in a population.
Identify stone formers w/significant family history.
follow a cohort of pediatric stone formers & their families.
Report long-term recurrence rates & therapeutic outcomes.
Additional relevant MeSH terms:
Signs and Symptoms