IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA (PH1)

The aim of this study is to know the difference between protein profiles (multi-analyte profile) of PH1 patients, idiopathic hypercalciuria (IH) patients and PH1 patients 'siblings. Idiopathic hypercalciuria is a less severe kidney disease that PH1, which also leads to the formation of kidney stones.

The aim is to identify patterns of discriminating markers associated with primary hyperoxaluria type 1 (PH1) that will significantly improve clinical diagnosis and prognosis.

Study Overview

• Status: Completed
• Conditions: Idiopathic Hypercalciuria; Primary Hyperoxaluria Type 1
• Intervention / Treatment: Other: Blood sample; Other: Urines samples

• Study Type: Interventional
• Enrollment (Actual): 5
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Lyon/bron, France, 69500
    • Hospices Civils de Lyon

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Diagnosed with primary hyperoxaluria, type 1 (PH1-Cohort A); OR
• Confirmed with AGXT mutation analysis (PH1-Cohort A)
• Diagnosed with idiopathic hypercalciuria (IHC- Cohort B);
• Potential subject diagnosed with PH1 or IH and has both data entered into the registry and has matched, archived random and 24-hour urine specimens obtained prior to any treatment intervention OR is consented and enrolled into the registry or this specific study during the program;
• Healthy siblings of PH1 patients known not to have PH or any another stone disease or chronic disease will be consented and enrolled into this study through the local sites where their sibling is being treated for PH1 (this study meets the criteria for expedited review through local or central IRBs);
• Healthy non-sibling controls known not to have PH or any another stone disease or chronic disease (Healthy Control-Cohort C);
• There is no upper or lower limit to the pediatric age range of enrolling infant, children and adolescent subjects, although it is understood that accurate and complete 24-hour urine collection in very young children and infants will be problematic and will be seriously considered in advance of individual patient or healthy controls enrollment;
• eGFR (Glomerular Filtration Rate) > 60 mL/min x 1.73 m2 with PH1 and IH patient cohorts matched by mean eGFR from their initial study (or registry) enrollment/ data collection.

Exclusion Criteria:

• Unwilling to provide written parent consent or adolescent assent to enroll into the International Registry or this study;
• Potential PH1, hypercalciuria, or siblings of PH1 patients with other chronic or acute illness or disease that could potentially confound proteomic results;
• Healthy intra-familial siblings unwilling to provide a blood sample for serum creatinine;
• Unwilling to provide urine specimens or permit data abstraction for the registry or this study.
• Not covered by, or having the right to, Social Security

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

4

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Primary Hyperoxaluria patient	Other: Blood sample; Other: Urines samples; 24-hour urines will be collected
Other: Primary Hyperoxaluria patient's siblings	Other: Blood sample; Other: Urines samples; 24-hour urines will be collected
Other: Idiopathic hypercalciuria patients	Other: Blood sample; Other: Urines samples; 24-hour urines will be collected
Other: Healthy volunteers	Other: Blood sample; Other: Urines samples; 24-hour urines will be collected

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
presence of protein markers in urine	24 hours

Secondary Outcome Measures

Outcome Measure	Time Frame
Presence of discriminative and robust protein markers in urine	24 hours

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start: May 1, 2013
• Primary Completion (Actual): July 1, 2013
• Study Completion (Actual): December 1, 2015

Study Registration Dates

• First Submitted: July 8, 2016
• First Submitted That Met QC Criteria: July 8, 2016
• First Posted (Estimate): July 12, 2016

Study Record Updates

• Last Update Posted (Estimate): July 13, 2016
• Last Update Submitted That Met QC Criteria: July 12, 2016
• Last Verified: July 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Kidney Diseases; Urologic Diseases; Urological Manifestations; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hyperoxaluria; Hypercalciuria; Hyperoxaluria, Primary
• Other Study ID Numbers: 2010-604

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No