Primary Hyperoxaluria Mutation Genotyping | NCT00589225

Studies
Primary Hyperoxaluria Mutation Genotyping

NCT00589225

Sponsor

Mayo Clinic

Status

Completed

Last Update Posted

Jul 7, 2016Estimated

Enrollment

902Actual

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

ID	Type	Description	Link
R01DK073354	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Jul 2016

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

Dec 2003

Primary Completion Date

Sep 2014Actual

Completion Date

Sep 2014Actual

First Submitted Date

Dec 28, 2007

First Submission Date that Met QC Criteria

Dec 28, 2007

First Posted Date

Jan 9, 2008Estimated

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

Jul 5, 2016

Last Update Posted Date

Jul 7, 2016Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Dawn S. Milliner, M.D., M.D., Mayo ClinicPrincipal Investigator

Lead Sponsor

Mayo ClinicOTHER

Collaborators

Name	Class
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)	NIH
Oxalosis and Hyperoxaluria Foundation (OHF)	OTHER

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

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

Detailed 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.

Conditions Module

Conditions

Primary Hyperoxaluria

Keywords

PH
PH type I
Primary Hyperoxaluria
Hyperoxaluria
Primary Oxalosis
PH type II
PH type III
Genetic testing for PH
Genetic testing for Primary Hyperoxaluria
Hereditary study for PH
Hereditary study for Primary Hyperoxaluria

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

902Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
1		Genetic Analysis	Genetic: Genetic Analysis

Interventions

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

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria		2 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients with clinical findings suggestive of primary hyperoxaluria
Family members of patiente with clinical findings 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

Not provided

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

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