Primary Immuno-DeficienciesGénétique-DIHNCT02954640
Evaluation of the Efficacy of the Sequencing Method by Gene-panel
A study testing Blood sampling in people with Primary Immuno-Deficiencies, run by Imagine Institute at 1 site in France.
Trial summary
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, the research team would like to validate a rapid and targeted method of high-throughput sequencing, on 301 genes, known to be involved in PID. Read more about this study
- Who is it for?
- Ages Up to 70 years
- Conditions the study is for
- Primary Immuno-Deficiencies
- What is being tested?
- Blood sampling
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 115 participants
- Where
- 1 siteFrance
- Study dates
- Feb 2016to 8 Sep 2017
- 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 Up to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient who need a genetic diagnosis of PID done at Necker's CEDI (Center for Immuno-Deficiencies Explorations), in the frame of an initial causal mutation identification
- Patient having signed an informed consent form (or parents for minor patients)
- Patient affiliated to National Health Care Insurance
Who cannot join
- Patient refusing to participate
- Patient under legal guardianship
- Patient that can't fulfill the study requirements, for any geographic, social or psychic reason
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of the Efficacy of the Sequencing Method by Gene-panel, Compared to the Reference Sanger Method, on Patients With Primary Immuno-deficiencies, and Who Need a Genetic Diagnosis.
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, the research team would like to validate a rapid and targeted method of high-throughput sequencing, on 301 genes, known to be involved in PID.
Read the detailed description
The Primary Immuno-Deficiencies (PID) are a set of rare diseases (estimated incidence of 1/5000). Today, more than 320 PID are described, and for 301 of them, the genetic cause has been identified, which underlines the huge diversity of all PID.
The genetic diagnosis of PID is very important for the comprehension of PID physiopathology, their treatment and the genetic patient information.
The characterisation of the clinical and immunological phenotype of patients allowed to identify a known morbid gene in 30% of cases, but for other patients, the genetic cause remains unknown, due to, inter alia, the lack of efficient tools for genetic exploration.
In this context, each year, around 600 French and foreign patients are explored at the Necker hospital CEDI (Center for Immuno-Deficiencies Explorations), for whom are identified, in 30% of cases, a known genetic cause.
Their treatment and the diagnosis of these patients is slow, partially because these studies are dependants of research fundings. In addition, in the current practice, the investigators sometimes discover incidental findings via the non-targeted high throughput genetic analyzes.
The aim of the gene-panel is to improve the diagnosis procedures of these known diseases, by generalizing a rapid and targeted method of sequencing, on 301 genes, known to be involved in PID.
- Conditions
- Primary Immuno-Deficiencies
- Being tested
- Blood sampling
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplingBiological
Additional blood sampling for the realization of the test on the gene panel
| Study group | Role | What they receive |
|---|---|---|
| Patient with PID | Other | For patient with clinical diagnosis of PID, an additional blood sampling will be taken.
The genetic diagnosis will be done via the method of gene-panel in the frame of the study.
A genetic confirmation will, in any case, be done via the reference method (Sanger), in order to establish a final diagnosis for these patients. Receives: Biological: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison of the 2 sequencing methods
Assess the efficacy of the identification of the genetic cause of PID, via the high throughput gene panel sequencing method, compared to the reference Sanger method, on patients with no identified mutation after analyzes done by available technics on hospital laboratories.
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 posted3 Nov 2016 (estimated)
- Study startFeb 2016
- Primary completion8 Sep 2017
- Study completion8 Sep 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Immuno-DeficienciesStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 115 participants (actual)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Assistance Publique - Hôpitaux de Paris
- Responsible party
- Sponsor
- Investigators
- Alain Fischer, Study chair, Imagine InstituteAlexandre Alcais, Study chair, Imagine Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02954640
- Sponsor's protocol ID
- IMIS2015-02
- Acronym
- Génétique-DIH
- Status last verified
- Mar 2018
- First submitted
- 2 Nov 2016
- Last updated
- 15 Mar 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Mar 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Efficacy of the Sequencing Method by Gene-panel, Compared to the Reference Sanger Method, on Patients With Primary Immuno-deficiencies, and Who Need a Genetic Diagnosis.
- ClinicalTrials.gov ID
- NCT02954640
- Acronym / sponsor ID
- Génétique-DIH / IMIS2015-02
- Conditions
- Primary Immuno-Deficiencies
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 115 participants (actual)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Collaborators
- Assistance Publique - Hôpitaux de Paris
- Study start
- Feb 2016
- Primary completion
- 8 Sep 2017 (actual)
- Study completion
- 8 Sep 2017 (actual)
- First posted
- 3 Nov 2016 (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.
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, the research team would like to validate a rapid and targeted method of high-throughput sequencing, on 301 genes, known to be involved in PID.
Detailed description
The Primary Immuno-Deficiencies (PID) are a set of rare diseases (estimated incidence of 1/5000). Today, more than 320 PID are described, and for 301 of them, the genetic cause has been identified, which underlines the huge diversity of all PID.
The genetic diagnosis of PID is very important for the comprehension of PID physiopathology, their treatment and the genetic patient information.
The characterisation of the clinical and immunological phenotype of patients allowed to identify a known morbid gene in 30% of cases, but for other patients, the genetic cause remains unknown, due to, inter alia, the lack of efficient tools for genetic exploration.
In this context, each year, around 600 French and foreign patients are explored at the Necker hospital CEDI (Center for Immuno-Deficiencies Explorations), for whom are identified, in 30% of cases, a known genetic cause.
Their treatment and the diagnosis of these patients is slow, partially because these studies are dependants of research fundings. In addition, in the current practice, the investigators sometimes discover incidental findings via the non-targeted high throughput genetic analyzes.
The aim of the gene-panel is to improve the diagnosis procedures of these known diseases, by generalizing a rapid and targeted method of sequencing, on 301 genes, known to be involved in PID.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient with PID | Other | Biological: Blood samplingFor patient with clinical diagnosis of PID, an additional blood sampling will be taken. The genetic diagnosis will be done via the method of gene-panel in the frame of the study. A genetic confirmation will, in any case, be done via the reference method (Sanger), in order to establish a final diagnosis for these patients. |
Who may qualify
- Ages
- Up to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Patient who need a genetic diagnosis of PID done at Necker's CEDI (Center for Immuno-Deficiencies Explorations), in the frame of an initial causal mutation identification
- Patient having signed an informed consent form (or parents for minor patients)
- Patient affiliated to National Health Care Insurance
Key exclusion criteria (3 listed)
- Patient refusing to participate
- Patient under legal guardianship
- Patient that can't fulfill the study requirements, for any geographic, social or psychic reason
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 samplingAdditional blood sampling for the realization of the test on the gene panel | Biological | Patient with PID |
Primary outcome
Comparison of the 2 sequencing methods
Time frame: 2 years
Assess the efficacy of the identification of the genetic cause of PID, via the high throughput gene panel sequencing method, compared to the reference Sanger method, on patients with no identified mutation after analyzes done by available technics on hospital laboratories.
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 15 Mar 2018.
- Individual participant dataSharing planned: No
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.
Alain Fischer study chair
Imagine Institute
Alexandre Alcais study chair
Imagine Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sampling in people with Primary Immuno-Deficiencies, run by Imagine Institute at 1 site 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 3 inclusion and 3 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 15 Mar 2018. 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 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?
Comparison of the 2 sequencing methods (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 15 Mar 2018.