Autosomal Dominant Polycystic Kidney DiseaseDNAAANCT02322385
Clinical Implications of DNA Analysis on ADPKD
An observational study of Autosomal Dominant Polycystic Kidney Disease, run by Kyorin University at 2 sites in Japan.
Trial summary
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. Read more about this study
- Who is it for?
- Ages 20 to 80 years
- Conditions the study is for
- Autosomal Dominant Polycystic Kidney Disease
- How many people
- 80 participants
- Where
- 2 sitesJapan
- Study dates
- Jan 2014to 31 Dec 2016
- 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 20 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The patients with ADPKD visiting Kyorin university hospital over two years. The patients whose clinical data including total kidney volume (TKV), eGFR, QOL data and other relevant clinical data are available will be enrolled.
Who may be able to join
- The unrelated patients with ADPKD.
Who cannot join
- The patients whose clinical data are not compiled.
Trial locations and contacts
2 sites in 1 country.
Japan2 sites
Department of Polycystic Kidney Research, Kyorin University School of Medicine
Mitaka, Tokyo, 181-8611
Department of Urology, Kyorin University Hospital
Mitaka, Tokyo, 181-8611
About this study
Official title: Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.
Read the detailed description
80 unrelated patients with ADPKD attending to the Kyorin University Hospital whose clinical data are compiled. DNA analysis is performed at Otsuka Pharmaceutical Laboratory.
Clinical data include total kidney volume (TKV), TKV slope, eGFR, eGFR slope and other clinically relevant data.
- Keywords
- Autosomal Dominant Polycystic Kidney Disease, PKD 1 gene, PKD 2 gene, Truncational mutation, Hypomorphic mutation
- Medical subject headings
- Polycystic Kidney, Autosomal Dominant
What is being measured
The primary outcome is the main question the study is designed to answer.
The relationship between mutational types and phenotypes
- Total Kidney Volume (TKV) measured by MRI and its slope.
- Total Liver Volume (TLV) measured by MRI and its slope.
- GFR estimated by plasma creatinine and cystatin C (eGFR).
- Other clinical data, such as QOL scores and ADPKD-related symptoms.
Measured: Depends on the observational period at least more than one year.
Secondary outcomes (1)
Identify the efficacy of next generation sequencing method
- Compatibility of sequence results between two NGSs.
- Compatibility of sequence results between NGS and Sanger's method.
Measured: One year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Dec 2014 (estimated)
- Study startJan 2014
- Primary completion31 Dec 2016
- Study completion31 Dec 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Autosomal Dominant Polycystic Kidney DiseaseStudies of the same condition, open and under way.
- 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
- Prospective
- Enrolment
- 80 participants (actual)
Sponsor and investigators
- Lead sponsor
- Kyorin University
- Sponsor type
- University, hospital or other
- Collaborators
- Otsuka Pharmaceutical Co., Ltd.
- Responsible party
- Principal investigator, Eiji Higashihara, MD, Kyorin University
- Investigators
- Eiji Higashihara, MD, Study chair, Department of Polycystic Kidney Research, Kyorin University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02322385
- Sponsor's protocol ID
- Kyorin-PKD-1
- Acronym
- DNAAA
- Status last verified
- Feb 2017
- First submitted
- 24 Jan 2014
- Last updated
- 3 Mar 2017
- Results posted
- No
- Data monitoring committee
- No
Publications
Higashihara E, Horie S, Kinoshita M, Harris PC, Okegawa T, Tanbo M, Hara H, Yamaguchi T, Shigemori K, Kawano H, Miyazaki I, Kaname S, Nutahara K. A potentially crucial role of the PKD1 C-terminal tail in renal prognosis. Clin Exp Nephrol. 2018 Apr;22(2):395-404. doi: 10.1007/s10157-017-1477-7. Epub 2017 Oct 5.
PubMed 28983800
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease
- ClinicalTrials.gov ID
- NCT02322385
- Acronym / sponsor ID
- DNAAA / Kyorin-PKD-1
- Keywords
- Autosomal Dominant Polycystic Kidney Disease, PKD 1 gene, PKD 2 gene, Truncational mutation, Hypomorphic mutation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 80 participants (actual)
- Lead sponsor
- Kyorin UniversityUniversity, hospital or other
- Collaborators
- Otsuka Pharmaceutical Co., Ltd.
- Study start
- Jan 2014
- Primary completion
- 31 Dec 2016 (actual)
- Study completion
- 31 Dec 2016 (actual)
- First posted
- 23 Dec 2014 (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.
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.
Detailed description
80 unrelated patients with ADPKD attending to the Kyorin University Hospital whose clinical data are compiled. DNA analysis is performed at Otsuka Pharmaceutical Laboratory.
Clinical data include total kidney volume (TKV), TKV slope, eGFR, eGFR slope and other clinically relevant data.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 20 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The patients with ADPKD visiting Kyorin university hospital over two years. The patients whose clinical data including total kidney volume (TKV), eGFR, QOL data and other relevant clinical data are available will be enrolled.
Key inclusion criteria (1 listed)
- The unrelated patients with ADPKD.
Key exclusion criteria (1 listed)
- The patients whose clinical data are not compiled.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The relationship between mutational types and phenotypes
Time frame: Depends on the observational period at least more than one year.
* Total Kidney Volume (TKV) measured by MRI and its slope. * Total Liver Volume (TLV) measured by MRI and its slope. * GFR estimated by plasma creatinine and cystatin C (eGFR). * Other clinical data, such as QOL scores and ADPKD-related symptoms.
1 secondary outcome
Identify the efficacy of next generation sequencing method
Time frame: One year.
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 3 Mar 2017.
- Derived from this study: PubMed 28983800Higashihara E, Horie S, Kinoshita M, Harris PC, Okegawa T, Tanbo M, Hara H, Yamaguchi T, Shigemori K, Kawano H, Miyazaki I, Kaname S, Nutahara K. A potentially crucial role of the PKD1 C-terminal tail in renal prognosis. Clin Exp Nephrol. 2018 Apr;22(2):395-404. doi: 10.1007/s10157-017-1477-7. Epub 2017 Oct 5.
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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.
Eiji Higashihara, MD study chair
Department of Polycystic Kidney Research, Kyorin University School of Medicine
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autosomal Dominant Polycystic Kidney Disease, run by Kyorin University at 2 sites in Japan.
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 1 inclusion and 1 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 3 Mar 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Japan. 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?
The relationship between mutational types and phenotypes (time frame: Depends on the observational period at least more than one year.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02322385, which also lists 1 linked publication.
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 3 Mar 2017.