Autosomal Dominant Polycystic Kidney Disease (ADPKD)GeneQuestNCT02112136
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
A study testing Blood Collection in people with Autosomal Dominant Polycystic Kidney Disease (ADPKD), run by University Hospital, Brest at 25 sites in France.
Trial summary
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers). Genome wide analysis will be performed in families without mutations identified. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- What is being tested?
- Blood Collection
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1,450 participants
- Where
- 25 sitesFrance
- Study dates
- 12 Dec 2014to 12 Dec 2020
- Phase
- Interventional
- 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 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients with a diagnosis of ADPKD
- Written Informed Consent
- Affiliated or benefiting from a national insurance
- Inclusion Criteria of the relatives (affected or non affected) :
- Relatives with a diagnosis of ADPKD (ADPKD relatives)
- And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30.
- Written Informed consent
- Affiliated or benefiting from a national insurance
Who cannot join
- Subjects unable to provide written informed consent
- Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
- Subjects unable to provide written informed consent
- Age under 30 for the "non-affected" relatives
Trial locations and contacts
25 sites in 1 country.
25 sites in 1 country
France25 sites
CHU Angers
Angers, 49933
AUB Brest
Brest, 29200
Centre de néphrologie et de dialyse d'Armorique
Brest, 29200
CHRU Brest
Brest, 29609
CH Laval
Laval, 53000
CH du Mans
Le Mans, 72000
ECHO dialyse
Le Mans, 72016
Centre de dialyse de Lorient
Lorient, 56100
CH Bretagne Sud
Lorient, 56100
Hôpital Hôtel Dieu - CHU Nantes
Nantes, 44093
CH Niort
Niort, 79021
ECHO les Sables d'Olonne
Olonne-sur-Mer, 85109
Hôpital Jean Bernard - CHU Poitiers
Poitiers, 86021
CHCB site de Noyal Pontivy
Pontivy, 56306
CH Laënnec
Quimper, 29000
AUB Santé
Quimper, 2900
Hôpital Pontchaillou
Rennes, 35033
Echo Csmn
Rezé, 44402
Centre de Pérharidy
Roscoff, 29680
Hôpital Yves Le Foll
Saint-Brieuc, 22000
ECHO Centre Ambulatoire
Saint-Herblain, 44821
CH de Saint Nazaire
Saint-Nazaire, 44606
CH Saint Malo
St-Malo, 35403
Hôpital Bretonneau - CHU Tours
Tours, MD
CH Bretagne Atlantique - Site de Vannes
Vannes, 56017
About this study
Official title: Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
Genome wide analysis will be performed in families without mutations identified.
Read the detailed description
- Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
- Characterization of the Phenotype
- Collect DNA sample
- Analysis of PKD1 and PKD2 genes first
- Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
- Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
- Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees
- Being tested
- Blood Collection
- Keywords
- Autosomal Dominant Polycystic Kidney Disease (ADPKD), Renal cysts, Chronic Kidney Diseases, Genetic
- Medical subject headings
- Polycystic Kidney, Autosomal Dominant, Renal Insufficiency, Chronic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood CollectionOther
Phenotype and Genotype Analysis, Biological Analysis
| Study group | Role | What they receive |
|---|---|---|
| GeneQuest | Other | * No drug will be administrated in this study
* Blood collection Receives: Other: Blood Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients/families with no mutations identified in PKD1 and PKD2 genes
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Apr 2014 (estimated)
- Study start12 Dec 2014
- Primary completion12 Dec 2020
- Study completion12 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Autosomal Dominant Polycystic Kidney Disease (ADPKD)Studies of the same condition, open and under way.
- More trials run by University Hospital, BrestThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1,450 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Brest
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Emilie Cornec-Le Gall, MD, Principal investigator, CHRU de Brest
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02112136
- Sponsor's protocol ID
- RB14.017 GeneQuest
- Acronym
- GeneQuest
- Status last verified
- Dec 2020
- First submitted
- 9 Apr 2014
- Last updated
- 24 Mar 2021
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Yes: All collected data that underlie results in a publication
Publications
Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F; Genkyst Study Group; Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. Uromodulin processing in DNAJB11-kidney disease. Kidney Int. 2024 Feb;105(2):376-380. doi: 10.1016/j.kint.2023.11.008. Epub 2023 Nov 26. No abstract available.
PubMed 38016513Lefevre S, Audrezet MP, Halimi JM, Longuet H, Bridoux F, Ecotiere L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G, Le Meur Y, Cornec-Le Gall E; Genkyst Study Group. Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort. Nephrol Dial Transplant. 2022 Oct 19;37(11):2223-2233. doi: 10.1093/ndt/gfac027.
PubMed 35108395
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in Autosomal Dominant Polycystic Kidney Disease (ADPKD): The GeneQuest Study
- ClinicalTrials.gov ID
- NCT02112136
- Acronym / sponsor ID
- GeneQuest / RB14.017 GeneQuest
- Keywords
- Autosomal Dominant Polycystic Kidney Disease (ADPKD), Renal cysts, Chronic Kidney Diseases, Genetic
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 1,450 participants (actual)
- Lead sponsor
- University Hospital, BrestUniversity, hospital or other
- Study start
- 12 Dec 2014 (actual)
- Primary completion
- 12 Dec 2020 (actual)
- Study completion
- 12 Dec 2020 (actual)
- First posted
- 11 Apr 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.
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
Genome wide analysis will be performed in families without mutations identified.
Detailed description
- Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
- Characterization of the Phenotype
- Collect DNA sample
- Analysis of PKD1 and PKD2 genes first
- Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
- Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
- Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GeneQuest | Other | Other: Blood Collection* No drug will be administrated in this study * Blood collection |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- Patients with a diagnosis of ADPKD
- Written Informed Consent
- Affiliated or benefiting from a national insurance
- Relatives with a diagnosis of ADPKD (ADPKD relatives)
- And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30.
Key exclusion criteria (4 listed)
- Subjects unable to provide written informed consent
- Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
- Subjects unable to provide written informed consent
- Age under 30 for the "non-affected" relatives
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 |
|---|---|---|
| Blood CollectionPhenotype and Genotype Analysis, Biological Analysis | Other | GeneQuest |
Primary outcome
Number of patients/families with no mutations identified in PKD1 and PKD2 genes
Time frame: 3 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 24 Mar 2021.
- Derived from this study: PubMed 38016513Mariniello M, Schiano G, Yoshifuji A, Gillion V, Sayer JA, Jouret F; Genkyst Study Group; Le Meur Y, Cornec-Le Gall E, Olinger EG, Devuyst O. Uromodulin processing in DNAJB11-kidney disease. Kidney Int. 2024 Feb;105(2):376-380. doi: 10.1016/j.kint.2023.11.008. Epub 2023 Nov 26. No abstract available.
- Derived from this study: PubMed 35108395Lefevre S, Audrezet MP, Halimi JM, Longuet H, Bridoux F, Ecotiere L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G, Le Meur Y, Cornec-Le Gall E; Genkyst Study Group. Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort. Nephrol Dial Transplant. 2022 Oct 19;37(11):2223-2233. doi: 10.1093/ndt/gfac027.
- Individual participant dataSharing planned: Yes. All collected data that underlie results in a publication
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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.
Emilie Cornec-Le Gall, MD principal investigator
CHRU de Brest
25 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood Collection in people with Autosomal Dominant Polycystic Kidney Disease (ADPKD), run by University Hospital, Brest at 25 sites in France.
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 8 inclusion and 4 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 24 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 25 sites in France. 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?
Number of patients/families with no mutations identified in PKD1 and PKD2 genes (time frame: 3 years). 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 NCT02112136, which also lists 2 linked publications.
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 24 Mar 2021.