Congenital NeutropenianeutropeniasNCT02866162
Screening for Genes in Patients With Congenital Neutropenia
An observational study of Congenital Neutropenia, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Neutropenia
- What is being tested?
- High-throughput exome sequencing
- How many people
- 25 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2013to Sep 2015
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: patients with syndromic congenital neutropenia with development anomalies
Who may be able to join
- Persons who have provided written consent
- Patients with congenital neutropenia and mental retardation and/or a development anomaly (malformation, facial dysmorphism)
- Patients who accept a clinical evaluation, and to give at least one blood sample
- Screening for chromosomal microrearrangements by normal array-CGH
Who cannot join
- Persons without national health insurance cover
- Patients who do not meet the clinical and/or biological criteria
- Refusal to give written consent to take part in the study
- Refusal to give a blood sample
- Blood samples from parents not available
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.
The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.
- Conditions
- Congenital Neutropenia
- Being tested
- High-throughput exome sequencing
- Medical subject headings
- Neutropenia, Severe Congenital, Autosomal Recessive 3
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
High-throughput exome sequencingGenetic
| Study group | Role | What they receive |
|---|---|---|
| patients with neutropenia | Not described Receives: Genetic: High-throughput exome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of a gene or genes responsible for congenital neutropenia syndromic
Measured: day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Aug 2016 (estimated)
- Study startSep 2013
- Primary completionSep 2015
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 Congenital NeutropeniaStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02866162
- Sponsor's protocol ID
- Thauvin PARI 2013
- Acronym
- neutropenias
- Status last verified
- Mar 2026
- First submitted
- 5 Aug 2016
- Last updated
- 12 Mar 2026
- Results posted
- No
Publications
Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Riviere JB, Heron D, Donadieu J, Bellanne-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Am J Med Genet A. 2017 Jan;173(1):62-71. doi: 10.1002/ajmg.a.37969. Epub 2016 Sep 12.
PubMed 27615324
Study at a glance
From the registry record, last updated by the sponsor on 12 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of the Molecular Bases of Syndromic Congenital Neutropenia With Development Anomalies
- ClinicalTrials.gov ID
- NCT02866162
- Acronym / sponsor ID
- neutropenias / Thauvin PARI 2013
- Conditions
- Congenital Neutropenia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- Sep 2013
- Primary completion
- Sep 2015 (actual)
- First posted
- 15 Aug 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.
Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.
The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with neutropenia | – | Genetic: High-throughput exome sequencing |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with syndromic congenital neutropenia with development anomalies
Key inclusion criteria (4 listed)
- Persons who have provided written consent
- Patients with congenital neutropenia and mental retardation and/or a development anomaly (malformation, facial dysmorphism)
- Patients who accept a clinical evaluation, and to give at least one blood sample
- Screening for chromosomal microrearrangements by normal array-CGH
Key exclusion criteria (5 listed)
- Persons without national health insurance cover
- Patients who do not meet the clinical and/or biological criteria
- Refusal to give written consent to take part in the study
- Refusal to give a blood sample
- Blood samples from parents not available
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 |
|---|---|---|
| High-throughput exome sequencing | Genetic | patients with neutropenia |
Primary outcome
Identification of a gene or genes responsible for congenital neutropenia syndromic
Time frame: day 1
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 12 Mar 2026.
- Results publication: PubMed 27615324Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Riviere JB, Heron D, Donadieu J, Bellanne-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Am J Med Genet A. 2017 Jan;173(1):62-71. doi: 10.1002/ajmg.a.37969. Epub 2016 Sep 12.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Congenital Neutropenia, run by Centre Hospitalier Universitaire Dijon 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 4 inclusion and 5 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 12 Mar 2026. 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?
Identification of a gene or genes responsible for congenital neutropenia syndromic (time frame: day 1). 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 NCT02866162, 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 12 Mar 2026.