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Hypercalciuria and Calcium Stone Disease in Caucasian Patients

Expanded access is currently available for this treatment.
Verified October 2008 by University of Texas Southwestern Medical Center
Information provided by:
University of Texas Southwestern Medical Center Identifier:
First received: September 30, 2008
Last updated: October 30, 2008
Last verified: October 2008
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
Calcium Stone Disease
Radiation: Radiological testing
Genetic: Pediatric Urologic DNA and History Repository

Study Type: Expanded Access     What is Expanded Access?
Official Title: Hypercalciuria and Calcium Stone Disease in Caucasian Patients

Resource links provided by NLM:

Further study details as provided by University of Texas Southwestern Medical Center:

Intervention Details:
    Radiation: Radiological testing
    Bone mineral density
    Genetic: Pediatric Urologic DNA and History Repository

    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   (Child, Adult)
Sexes Eligible for Study:   All

Inclusion Criteria:

  • Male and female English-speaking Caucasian patients >4 years of age with a history of stone formation before age 20 years, their family members, and sex- and age-matched pediatric normal volunteers will be included regardless of current age, gender, race or ethnicity.

Exclusion Criteria:

  • 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. Non-English speaking subjects are not eligible to participate in the study, as this study specifically focuses on English-speaking Caucasian patients based on the adult study from which this study project has been derived.
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Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00765531

Contact: Linda A. Baker, MD 214-456-2467

Sponsors and Collaborators
University of Texas Southwestern Medical Center
  More Information

Responsible Party: Linda A. Baker, M.D., University of Texas Southwestern Medical School Identifier: NCT00765531     History of Changes
Other Study ID Numbers: 1101-577
Study First Received: September 30, 2008
Last Updated: October 30, 2008

Keywords provided by University of Texas Southwestern Medical Center:
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.

Additional relevant MeSH terms:
Pathological Conditions, Anatomical
Urological Manifestations
Signs and Symptoms processed this record on May 23, 2017