Primary HyperoxaluriaNCT02340689
Primary Hyperoxaluria Mutation Genotyping/Phenotyping
An observational study of Primary Hyperoxaluria, run by Mayo Clinic at 1 site in United States.
Trial summary
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff. Read more about this study
- Who is it for?
- Ages 1 day and older
- Conditions the study is for
- Primary Hyperoxaluria
- What is being tested?
- Genetic Analysis
- How many people
- 1,235 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2013to Dec 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: * Patients with clinical characteristics suggesting of primary hyperoxaluria * Family members of patients with clinical characteristics suggestive of primary hyperoxaluria
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
Read the 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
- Primary Hyperoxaluria
- Being tested
- Genetic Analysis
- 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
- Medical subject headings
- Hyperoxaluria, Primary, Hyperoxaluria
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic AnalysisOther
Also called PH, PH type 1, Primary Hyperoxaluria, Hyperoxlauria
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.
| Study group | Role | What they receive |
|---|---|---|
| Genetic testing | Genetic Analysis Receives: Other: Genetic Analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotype markers of early symptomatic onset of primary hyperoxaluria
Correlation of genotype with severity of disease as defined by age at onset of symptoms
Measured: 5 years
Secondary outcomes (2)
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
Measured: 5 years
Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.
Correlation of genotype with age at kidney failure
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2015 (estimated)
- Study startOct 2013
- Primary completionDec 2018
- Study completionDec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary HyperoxaluriaStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 1,235 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, John Lieske, Mayo Clinic
- Investigators
- Dawn Milliner, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02340689
- Sponsor's protocol ID
- 13-006384
- Status last verified
- Aug 2019
- First submitted
- 16 Sep 2014
- Last updated
- 19 Aug 2019
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No: Using a limited data set, plans to share data in accordance with NIH funding expectations.
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria
- ClinicalTrials.gov ID
- NCT02340689
- Acronym / sponsor ID
- 13-006384
- Conditions
- Primary Hyperoxaluria
- Keywords
- PH, PH type 1, Primary Hyperoxaluria, Hyperoxaluria, Primary Oxalosis, PH type 2, PH type 3, Genetic testing for PH
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,235 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- Oct 2013 (actual)
- Primary completion
- Dec 2018 (actual)
- Study completion
- Dec 2018 (actual)
- First posted
- 19 Jan 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic testing | – | Other: Genetic AnalysisGenetic Analysis |
Who may qualify
- Ages
- 1 day and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * Patients with clinical characteristics suggesting of primary hyperoxaluria * Family members of patients with clinical characteristics suggestive of primary hyperoxaluria
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic AnalysisAlso: PH, PH type 1, Primary Hyperoxaluria, HyperoxlauriaWe 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. | Other | Genetic testing |
Primary outcome
Genotype markers of early symptomatic onset of primary hyperoxaluria
Time frame: 5 years
Correlation of genotype with severity of disease as defined by age at onset of symptoms
2 secondary outcomes
Genotype markers of marked hyperoxaluria in patients with primary hyperoxaluria
Time frame: 5 years
Genotype markers of early loss of kidney function in patients with primary hyperoxaluria.
Time frame: 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2019.
- Individual participant dataSharing planned: No. Using a limited data set, plans to share data in accordance with NIH funding expectations.
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Enrolling by invitationObservational study
Follow-up of Pediatric Patients Affected by Primary Hyperoxaluria Type 1 (PH1) Treated With Lumasiran
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Active, not recruitingPhase 3
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Dawn Milliner, MD principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Hyperoxaluria, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotype markers of early symptomatic onset of primary hyperoxaluria (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2019.