Primary Hyperoxaluria Clinical Trial
Official title:
Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
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. ;
Observational Model: Cohort, Time Perspective: Retrospective
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Withdrawn |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 |