RECRUITING

Monogenic Kidney Stone - Genetic Testing

Conditions

Rare Kidney Stone Diseases Primary Hyperoxaluria (PH)Hyperoxaluria PH PH 1 PH 2 PH 3 Dent Disease Dent 1 Dent 2 Cystinuria APRT Deficiency 24-Hydroxylase Deficiency CYP24A1

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.

Official Title

Characterization of Monogenic Kidney Stone Diseases

Quick Facts

Study Start:2017-09-11

Study Completion:2028-02

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT03305835

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
1. Patients \<18yrs with a history of kidney stones, and/or nephrocalcinosis, OR 2. Patients \>18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following: 1. Family history of stones or nephrocalcinosis or unexplained kidney failure 2. Growth retardation 3. Metabolic bone disease 4. Unusual stone composition or pathologic or urinary crystals 5. Proteinuria 6. Reduced glomerular filtration rate (GFR) 7. Hypomagnesemia or hypophosphatemia or hypercalcemia 8. Increased oxalate 9. Renal cysts, OR 3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR 4. Patients previously enrolled in the Rare Kidney Stone Consortium 6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR 5. Patients previously enrolled in the Rare Kidney Stone Consortium 6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR 6. Family member of a patient that meets at least one of the above criteria	1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases 2. Unwilling or unable to provide consent/assent

Inclusion Criteria

Exclusion Criteria

1. Patients \<18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
2. Patients \>18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
1. Family history of stones or nephrocalcinosis or unexplained kidney failure
2. Growth retardation
3. Metabolic bone disease
4. Unusual stone composition or pathologic or urinary crystals
5. Proteinuria
6. Reduced glomerular filtration rate (GFR)
7. Hypomagnesemia or hypophosphatemia or hypercalcemia
8. Increased oxalate
9. Renal cysts, OR
3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
4. Patients previously enrolled in the Rare Kidney Stone Consortium 6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
5. Patients previously enrolled in the Rare Kidney Stone Consortium 6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
6. Family member of a patient that meets at least one of the above criteria

1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
2. Unwilling or unable to provide consent/assent

Contacts and Locations

Study Contact

RKSC Study Coordinators

CONTACT

800-270-4637

RareKidneyStones@mayo.edu

Principal Investigator

David Sas, DO

PRINCIPAL_INVESTIGATOR

Mayo Clinic

Study Locations (Sites)

Mayo Clinic

Rochester, Minnesota, 55905

United States

Collaborators and Investigators

Sponsor: Mayo Clinic

David Sas, DO, PRINCIPAL_INVESTIGATOR, Mayo Clinic

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2017-09-11

Study Completion Date2028-02

Study Record Updates

Study Start Date2017-09-11

Study Completion Date2028-02

Terms related to this study

Keywords Provided by Researchers

Primary Hyperoxaluria (PH)
Hyperoxaluria
PH
PH 1
PH 2
PH 3
Dent Disease
Dent 1
Dent 2
Cystinuria
APRT Deficiency
24-Hydroxylase Deficiency
CYP24A1

Additional Relevant MeSH Terms

Rare Kidney Stone Diseases