Primary Hyperoxaluria Mutation Genotyping/Phenotyping

NCT02340689 | Completed DMC

• 1 other identifier: 13-006384
• Study Type: observational
• Target: 1,235
• Locations: 1 country
• Sites: 1

Brief Summary

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

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

Outcome Measures

Primary Outcomes (1)

• 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 (2)

• Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria

  5 years

• Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.

  5 years

Study Arms (1)

Genetic testing

Genetic Analysis

Other: Genetic Analysis

Interventions

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.

Also known as: PH, PH type 1, Primary Hyperoxaluria, Hyperoxlauria, 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

Genetic testing

Eligibility Criteria

• Age: 1 Day+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• Unwilling or unable to provide consent/assent.

Sponsors & Collaborators

• Mayo Clinic: lead

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 retained for potential future use, with consent of subjects only.

MeSH Terms

Conditions

Hyperoxaluria, Primary; Hyperoxaluria

Interventions

Genetic Testing; Hydrogen-Ion Concentration; serine-pyruvate aminotransferase

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; Chemical Phenomena

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: Principal Investigator

Study Record Dates

• First Submitted: September 16, 2014
• First Posted: January 19, 2015
• Study Start: October 1, 2013
• Primary Completion: December 1, 2018
• Study Completion: December 1, 2018
• Last Updated: August 19, 2019

Record last verified: 2019-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)