Primary HyperoxaluriaNCT00589225
Primary Hyperoxaluria Mutation Genotyping
An observational study of Primary Hyperoxaluria, run by Mayo Clinic at 1 site in United States.
Trial summary
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Primary Hyperoxaluria
- What is being tested?
- Genetic Analysis
- How many people
- 902 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2003to Sep 2014
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: * Patients with clinical findings suggestive of primary hyperoxaluria * Family members of patiente with clinical findings suggestive of primary hyperoxaluria
Who may be able to join
- You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
- You have a family member diagnosed with Primary Hyperoxaluria
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
Read the 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
- Primary Hyperoxaluria
- Being tested
- Genetic Analysis
- 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
- 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 AnalysisGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Genetic Analysis Receives: Genetic: Genetic Analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jan 2008 (estimated)
- Study startDec 2003
- Primary completionSep 2014
- Study completionSep 2014
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
- 902 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Oxalosis and Hyperoxaluria Foundation (OHF)
- Responsible party
- Principal investigator, Dawn S. Milliner, M.D., Mayo Clinic
- Investigators
- Dawn Milliner, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00589225
- Sponsor's protocol ID
- 434-03
- Other IDs
- R01DK073354
- Status last verified
- Jul 2016
- First submitted
- 28 Dec 2007
- Last updated
- 7 Jul 2016
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
- ClinicalTrials.gov ID
- NCT00589225
- Acronym / sponsor ID
- 434-03
- Conditions
- Primary Hyperoxaluria
- Keywords
- PH, PH type I, Primary Hyperoxaluria, Hyperoxaluria, Primary Oxalosis, PH type II, PH type III, Genetic testing for PH
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 902 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Oxalosis and Hyperoxaluria Foundation (OHF)
- Study start
- Dec 2003
- Primary completion
- Sep 2014 (actual)
- Study completion
- Sep 2014 (actual)
- First posted
- 9 Jan 2008 (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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | Genetic: Genetic AnalysisGenetic Analysis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * Patients with clinical findings suggestive of primary hyperoxaluria * Family members of patiente with clinical findings suggestive of primary hyperoxaluria
Key inclusion criteria (2 listed)
- You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
- You have a family member diagnosed with Primary Hyperoxaluria
Key exclusion criteria (0 listed)
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 AnalysisWe 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. | Genetic | 1 |
Primary outcome
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria
Time frame: 2 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 7 Jul 2016.
- Individual participant dataSharing planned: No
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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 2 inclusion and 0 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 7 Jul 2016. 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?
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria (time frame: 2 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 7 Jul 2016.