Stone Disease in Children and Their Families

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.

ClinicalTrials.gov Identifier: NCT00765531

Expanded Access Status : Available

First Posted : October 3, 2008

Last Update Posted : January 17, 2019

Sponsor:

Information provided by (Responsible Party):

Linda A Baker, University of Texas Southwestern Medical Center

Study Description

Brief Summary:

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	Intervention/treatment
Hypercalciuria Urolithiasis	Radiation: Radiological testing Genetic: Pediatric Urologic DNA and History Repository

Show Detailed Description

Study Design

Layout table for study information

Study Type :	Expanded Access
Official Title:	Stone Disease in Children and Their Families

Resource links provided by the National Library of Medicine

U.S. FDA: Expanded Access (Compassionate Use)

U.S. FDA Resources

Interventions

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 two groups of testing:

Testing 1 - Involves completing an in-patient evaluation at UT Southwestern for patients with hypercalciuria and their families.

Testing 2 - Involves completing a simple out-patient evaluation for patients with or without hypercalciuria and their family members.

Eligibility Criteria

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Layout table for eligibility information

Ages Eligible for Study:	4 Years to 20 Years (Child, Adult)
Sexes Eligible for Study:	All

Criteria

Inclusion Criteria:

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.

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.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00765531

Contacts

Layout table for location contacts

Contact: Linda A. Baker, MD	214-456-2480	Linda.Baker@UTSouthwestern.edu
Contact: Martinez Hill	214-456-0279	martinez.hill@childrens.com

Sponsors and Collaborators

University of Texas Southwestern Medical Center

More Information

Layout table for additonal information

Responsible Party:	Linda A Baker, Professor & Interim Chief of Urology, Director of Pediatric Urology Research, University of Texas Southwestern Medical Center
ClinicalTrials.gov Identifier:	NCT00765531 History of Changes
Other Study ID Numbers:	STU 062011-081
First Posted:	October 3, 2008 Key Record Dates
Last Update Posted:	January 17, 2019
Last Verified:	January 2019

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:

Layout table for MeSH terms

Urolithiasis Hypercalciuria Urologic Diseases Urological Manifestations Signs and Symptoms

To Top