Stone Disease in Children and Their Families

NCT00765531 | Completed

• 1 other identifier: STU 062011-081
• Study Type: observational
• Target: 15
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Hypercalciuria; Urolithiasis

Keywords

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.

Outcome Measures

Primary Outcomes (1)

• Urine calcium-creatinine ratio

  44 hours

Study Arms (2)

Testing group 1 - Patients with hypercalciuria and their families

7 day diet and 44hr inpatient testing

Testing group 2 - Patients with or without hypercalciuria and their families

7 day diet and outpatient testing

Eligibility Criteria

• Age: 4 Years - 20 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals 4-20 years old of any sex with history of kidney stone formation and their family members.

You may qualify if:

• 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.

You may not qualify if:

• 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, hypercalcemia, 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.

Sponsors & Collaborators

• University of Texas Southwestern Medical Center: lead

MeSH Terms

Conditions

Hypercalciuria; Urolithiasis

Condition Hierarchy (Ancestors)

Urological Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases

Study Officials

• Linda Baker, MD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Urology, Director of Pediatric Urology Research

Study Record Dates

• First Submitted: September 30, 2008
• First Posted: October 3, 2008
• Primary Completion: September 26, 2022
• Study Completion: December 5, 2022
• Last Updated: May 3, 2024

Record last verified: 2024-05

Data Sharing

• IPD Sharing: Will not share