Clinical trial NCT03305835: Monogenic Kidney Stone - Genetic Testing
Official title: Characterization of Monogenic Kidney Stone Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rare Kidney Stone Diseases
Keywords: Primary Hyperoxaluria (PH)
Hyperoxaluria
PH
PH 1
PH 2
PH 3
Dent Disease
Dent 1
Dent 2
Cystinuria
APRT Deficiency
24-Hydroxylase Deficiency
CYP24A1
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
Collaborators: name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2017-10-10
Enrollment: 6000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * Patients with clinical characteristics suggestive of monogenic stone disease.
* Family members of patients with clinical characteristics suggestive of monogenic stone disease.

Brief summary: 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.

Detailed description: Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire

In addition to the above testing, family members may be asked to participate in the following:

• Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.

Eligibility criteria: Inclusion Criteria:

Participants meet at least one of the following 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

Exclusion 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

Primary outcomes:
measure: symptomatic onset of monogenic stone disease
timeFrame: 5 years
Secondary outcomes:
measure: Genotype markers
timeFrame: 5 years
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
Study officials:
affiliation: Mayo Clinic
name: David Sas, DO
role: PRINCIPAL_INVESTIGATOR
References: