Development AbnormaliesCHARGENCT03186144
Clinical and Molecular Study of CHARGE Syndrom
A study testing Blodd punction for genetic analysis in people with Development Abnormalies and Inclusion on Clinical Criteria of the Syndrome, run by Poitiers University Hospital at 1 site in France.
Trial summary
1. Clinical description of a French cohort of patients with CHARGE syndrome. 2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome 3. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Development Abnormalies, Inclusion on Clinical Criteria of the Syndrome
- What is being tested?
- Blodd punction for genetic analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 141 participants
- Where
- 1 siteFrance
- Study dates
- Feb 2012to Dec 2015
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Major criteria:
- Ocular coloboma
- Chonamal atresia and/or cleft palate
- Semi-CircularCanals hypoplasia
- Minor criteria:
- Cranial nerves
Show all 14Show fewer
- Hypothalamic-pituitary deficiency
- Internal or external ear malformation
- Cardiac, esophageal malformations
- Intellectual Deficiency
- Diagnosis criteria:
- Typical CHARGE: 3 major criteria or 2 major + 2 minor
- Partial CHARGE: 2 major + 1 minor
- Atypical CHARGE: 2 major without minor or 1 major + 2 minor
Who cannot join
- Absent consentment for genetic analysis
Trial locations and contacts
1 site in 1 country.
France1 site
French Referent centers for developement abnomalies
Poitiers, 86000
About this study
- Clinical description of a French cohort of patients with CHARGE syndrome.
- Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome
- Using Next generation Sequencing, try to identify other genes involved in this syndrome, as the CHD7 gene is involved in only 40-60% of cases
- Being tested
- Blodd punction for genetic analysis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blodd punction for genetic analysisGenetic
| Study group | Role | What they receive |
|---|---|---|
| No arm : descriptive study | Experimental | Not described Receives: Genetic: Blodd punction for genetic analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Description Clinical and molecular analysis of a French cohort CHARGE
Measured: 12 month
Execution of the socio-adaptive scale, parental scale
Measured: 12 month
Rate of mutations of CHD7 and / or type of mutations
Measured: 12 month
analysis CHD7 gene from the patient's DNA
Measured: 12 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jun 2017
- Study startFeb 2012
- Primary completionApr 2015
- Study completionDec 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Development AbnormaliesStudies of the same condition, open and under way.
- More trials run by Poitiers University HospitalThe 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
- Masking
- None (open label)
- Enrolment
- 141 participants (actual)
Sponsor and investigators
- Lead sponsor
- Poitiers University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03186144
- Sponsor's protocol ID
- CHARGE
- Acronym
- CHARGE
- Status last verified
- Jun 2017
- First submitted
- 26 Aug 2016
- Last updated
- 14 Jun 2017
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Jun 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Study of CHARGE Syndrom
- ClinicalTrials.gov ID
- NCT03186144
- Acronym / sponsor ID
- CHARGE / CHARGE
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 141 participants (actual)
- Lead sponsor
- Poitiers University HospitalUniversity, hospital or other
- Study start
- Feb 2012 (actual)
- Primary completion
- Apr 2015 (actual)
- Study completion
- Dec 2015 (actual)
- First posted
- 14 Jun 2017 (actual)
- 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.
- Clinical description of a French cohort of patients with CHARGE syndrome.
- Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome
- Using Next generation Sequencing, try to identify other genes involved in this syndrome, as the CHD7 gene is involved in only 40-60% of cases
Study design
- Primary purpose
- Diagnosis
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| No arm : descriptive study | Experimental | Genetic: Blodd punction for genetic analysis |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (14 listed)
- Ocular coloboma
- Chonamal atresia and/or cleft palate
- Semi-CircularCanals hypoplasia
- Cranial nerves
- Hypothalamic-pituitary deficiency
Key exclusion criteria (1 listed)
- Absent consentment for genetic analysis
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 |
|---|---|---|
| Blodd punction for genetic analysis | Genetic | No arm : descriptive study |
Primary outcome
Description Clinical and molecular analysis of a French cohort CHARGE
Time frame: 12 month
Execution of the socio-adaptive scale, parental scale
Time frame: 12 month
Rate of mutations of CHD7 and / or type of mutations
Time frame: 12 month
analysis CHD7 gene from the patient's DNA
Time frame: 12 month
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 14 Jun 2017.
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?
A study testing Blodd punction for genetic analysis in people with Development Abnormalies and Inclusion on Clinical Criteria of the Syndrome, run by Poitiers University Hospital 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 14 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 14 Jun 2017. 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?
Description Clinical and molecular analysis of a French cohort CHARGE (time frame: 12 month). The study lists 4 primary outcomes in all. 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 14 Jun 2017.