Goldenhar SyndromeGOLDGENNCT04056858
Study of a Candidate Gene Involved in Goldenhar Syndrome.
An observational study of Goldenhar Syndrome and Oculoauriculovertebral Dysplasia, run by University Hospital, Bordeaux.
Trial summary
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Goldenhar Syndrome, Oculoauriculovertebral Dysplasia
- How many people
- 248 participants
- Where
- No sites listed yet
- Study dates
- 29 Sep 2012to 8 Jan 2014
- 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: A cohort of 120 patients affected with Goldenhar/spectrum of oculoauriculovertebral dysplasia , whose phenotype is finely characterized, and that were analyzed using an oligonucleotide array-CGH pangenomic approach
Who may be able to join
- Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia
Who cannot join
- Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis
About this study
Official title: Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
Read the detailed description
Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance.
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
- Keywords
- array-CGH, exome sequencing
- Medical subject headings
- Goldenhar Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
presence of sequence variation
Identification of the first gene involved in Goldenhar syndrome
Measured: At the screening
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Aug 2019
- Study start29 Sep 2012
- Primary completion8 Jan 2014
- Study completion8 Jan 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Goldenhar SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 248 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Caroline ROORYCK THAMBO, Dr, Principal investigator, Bordeaux Universitu Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04056858
- Sponsor's protocol ID
- CHU BX 2012/11
- Acronym
- GOLDGEN
- Status last verified
- Aug 2019
- First submitted
- 12 Aug 2019
- Last updated
- 14 Aug 2019
- 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 14 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.
- ClinicalTrials.gov ID
- NCT04056858
- Acronym / sponsor ID
- GOLDGEN / CHU BX 2012/11
- Keywords
- array-CGH, exome sequencing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 248 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 29 Sep 2012 (actual)
- Primary completion
- 8 Jan 2014 (actual)
- Study completion
- 8 Jan 2014 (actual)
- First posted
- 14 Aug 2019 (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.
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
Detailed description
Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance.
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A cohort of 120 patients affected with Goldenhar/spectrum of oculoauriculovertebral dysplasia , whose phenotype is finely characterized, and that were analyzed using an oligonucleotide array-CGH pangenomic approach
Key inclusion criteria (1 listed)
- Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia
Key exclusion criteria (1 listed)
- Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis
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
presence of sequence variation
Time frame: At the screening
Identification of the first gene involved in Goldenhar syndrome
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 Aug 2019.
- Individual participant dataSharing planned: No
Related trials for Goldenhar Syndrome
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Recruiting
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Hemifacial Microsomia, Mucormycosis
RecruitingPhase 1
Efficacy of Preconditioned Adipose-Derived Stem Cells in Fat Grafting
Romberg Disease, Craniofacial Microsomia
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.
Caroline ROORYCK THAMBO, Dr principal investigator
Bordeaux Universitu Hospital
Questions about this trial
What is this clinical trial studying?
An observational study of Goldenhar Syndrome and Oculoauriculovertebral Dysplasia, run by University Hospital, Bordeaux.
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 14 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.
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?
presence of sequence variation (time frame: At the screening). 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 Aug 2019.