Primary Hyperoxaluria Mutation Genotyping/Phenotyping | NCT02340689

Studies
Primary Hyperoxaluria Mutation Genotyping/Phenotyping

NCT02340689

Sponsor

Mayo Clinic

Status

Completed

Last Update Posted

Aug 19, 2019Actual

Enrollment

1,235Actual

Phase

Not provided

Conditions

Primary Hyperoxaluria

Interventions

Genetic Analysis

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2019

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 2013Actual

Primary Completion Date

Dec 2018Actual

Completion Date

Dec 2018Actual

First Submitted Date

Sep 16, 2014

First Submission Date that Met QC Criteria

Jan 13, 2015

First Posted Date

Jan 19, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 15, 2019

Last Update Posted Date

Aug 19, 2019Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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

Detailed 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.

Conditions Module

Conditions

Primary Hyperoxaluria

Keywords

PH
PH type 1
Primary Hyperoxaluria
Hyperoxaluria
Primary Oxalosis
PH type 2
PH type 3
Genetic testing for PH
Genetic testing for Primary Hyperoxaluria
Hereditary study for PH
Hereditary study for Primary Hyperoxaluria
AGXT
GRHPR
HOGA1

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

1,235Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Genetic testing		Genetic Analysis	Other: Genetic Analysis

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Genetic Analysis	Other	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.	Genetic testing

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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 Outcomes

Measure	Description	Time Frame
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
Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Day

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients with clinical characteristics suggesting of primary hyperoxaluria
Family members of patients with clinical characteristics suggestive of primary hyperoxaluria

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Dawn Milliner, MD	Mayo Clinic	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Mayo Clinic		Rochester	Minnesota	55905	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Using a limited data set, plans to share data in accordance with NIH funding expectations.

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D006960	Hyperoxaluria, Primary
D006959	Hyperoxaluria

Ancestor Terms

ID	Term
D007674	Kidney Diseases
D014570	Urologic Diseases
D052776	Female Urogenital Diseases
D005261	Female Urogenital Diseases and Pregnancy Complications

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D005820	Genetic Testing
D006863	Hydrogen-Ion Concentration
C022638	serine-pyruvate aminotransferase

Ancestor Terms

ID	Term
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis
D008919	Investigative Techniques

Browse Leaves

Not provided

Browse Branches

Not provided