Primary Hyperoxaluria Mutation Genotyping

NCT00589225 | Completed DMC

• 2 other identifiers: 434-03R01DK073354
• Study Type: observational
• Target: 902
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (1)

• To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria

  2 years

Study Arms (1)

1

Genetic Analysis

Genetic: Genetic Analysis

Interventions

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.

1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
• You have a family member diagnosed with Primary Hyperoxaluria

Sponsors & Collaborators

• Mayo Clinic: lead
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator
• Oxalosis and Hyperoxaluria Foundation (OHF): collaborator

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Hyperoxaluria Center
• Mayo Clinic Hyperoxaluria and Oxalosis

Biospecimen

Retention: SAMPLES WITH DNA

DNA samples

MeSH Terms

Conditions

Hyperoxaluria, Primary; Hyperoxaluria

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Dawn Milliner, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: M.D.

Study Record Dates

• First Submitted: December 28, 2007
• First Posted: January 9, 2008
• Study Start: December 1, 2003
• Primary Completion: September 1, 2014
• Study Completion: September 1, 2014
• Last Updated: July 7, 2016

Record last verified: 2016-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)