Clinical Trials Logo
  1. Home
  2. Primary Hyperoxaluria
  3. NCT00589225
  4. Details
NCT00589225 Clinical Trial

Primary Hyperoxaluria Mutation Genotyping

Primary Hyperoxaluria Clinical Trial

Official title:
Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00589225
Other study ID # 434-03
Secondary ID R01DK073354
Status Completed
Phase Phase 1
First received December 28, 2007
Last updated July 5, 2016
Start date December 2003
Est. completion date September 2014

Study information
Verified date July 2016
Source Mayo Clinic
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Observational

Clinical Trial Summary

This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.

Description:

During your study visit, we will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Primary Hyperoxaluria by comparing it with the structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hour urine test may also be collected.

Recruitment information / eligibility
Status Completed
Enrollment 902
Est. completion date September 2014
Est. primary completion date September 2014
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group N/A and older
Eligibility Inclusion Criteria:

- You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria

- You have a family member diagnosed with Primary Hyperoxaluria

Study Design

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

Intervention

Genetic:
• 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 testing.

Locations
Country Name City State
United States Mayo Clinic Rochester Minnesota

Sponsors (3)
Lead Sponsor Collaborator
Mayo Clinic National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Oxalosis and Hyperoxaluria Foundation (OHF)

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria 2 years No
See also
  Status Clinical Trial Phase
Withdrawn NCT00875823 - International Registry for Primary Hyperoxaluria N/A
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Completed NCT02340689 - Primary Hyperoxaluria Mutation Genotyping/Phenotyping
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 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

External Links