Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02340689
Other study ID # 13-006384
Secondary ID
Status Completed
Phase
First received
Last updated
Start date October 2013
Est. completion date December 2018

Study information

Verified date August 2019
Source Mayo Clinic
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.


Description:

During your study visit, we will draw one tube, about two teaspoons (1 to 1 ½ teaspoons for children), of blood from your arm. White blood cells from the sample will be used as a source of DNA for genetic testing. We will use the DNA to try to identify mutations (changes) in one of the genes that can cause primary hyperoxaluria. This will be done by comparing it with the structure of these genes in normal individuals, patients with primary hyperoxaluria, and family members of primary hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hr urine test may also be collected.


Recruitment information / eligibility

Status Completed
Enrollment 1235
Est. completion date December 2018
Est. primary completion date December 2018
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria:

- Ages birth to 99 years in whom clinical information is available from medical records

- Patients with a diagnosis of PH confirmed on previous genetic testing

- Patients with clinical suspicion of primary hyperoxaluria (elevated urine oxalate of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day), history of kidney stones, and/or nephrocalcinosis documented by medical history or imaging studies

- First or second degree family members of a patient with primary hyperoxaluria

Exclusion Criteria:

- Stone formers who do not have confirmed PH and do not meet the inclusion criteria for clinical suspicion of primary hyperoxaluria

- Unwilling or unable to provide consent/assent.

Study Design


Related Conditions & MeSH terms


Intervention

Other:
Genetic Analysis
We will draw one tube of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic analysis.

Locations

Country Name City State
United States Mayo Clinic Rochester Minnesota

Sponsors (1)

Lead Sponsor Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Genotype markers of early symptomatic onset of primary hyperoxaluria Correlation of genotype with severity of disease as defined by age at onset of symptoms 5 years
Secondary Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria Correlation of genotype with severity of disease as defined by the level of urine oxalate 5 years
Secondary Genotype markers of early loss of kidney function in patients with primary hyperoxaluria. Correlation of genotype with age at kidney failure 5 years
See also
  Status Clinical Trial Phase
Withdrawn NCT00875823 - International Registry for Primary Hyperoxaluria N/A
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Completed NCT00638703 - Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Phase 2/Phase 3
Recruiting NCT06065852 - National Registry of Rare Kidney Diseases
Completed NCT03819647 - Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria Phase 2
Recruiting NCT02026388 - Rare Kidney Stone Consortium Biobank
Completed NCT02000219 - Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Phase 2
Recruiting NCT05843851 - Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria N/A
Recruiting NCT00588562 - Rare Kidney Stone Consortium Patient Registry
Completed NCT03391804 - Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Phase 2
Completed NCT03116685 - A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Phase 3
Recruiting NCT05107830 - Phenotyping of Primary Hyperoxaluria
Active, not recruiting NCT04152200 - A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 Phase 3
Recruiting NCT05001269 - Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function Phase 2
Completed NCT03392896 - Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria Phase 1
Completed NCT02012985 - Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Phase 1/Phase 2
Completed NCT01037231 - Phase 2/3 Oxabact Study Phase 2/Phase 3
Completed NCT00589225 - Primary Hyperoxaluria Mutation Genotyping Phase 1
Completed NCT02124395 - Health-related Quality of Life in Rare Kidney Stone
Completed NCT03350451 - An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1 Phase 2