Orofaciodigital SyndromesOFD1NCT01962129
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
An observational study of Orofaciodigital Syndromes, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
The aim of this multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Orofaciodigital Syndromes
- What is being tested?
- Sampling of blood
- How many people
- 133 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2011to Jun 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: Orofaciodigital Syndromes type I, type VII or other orofaciodigital syndromes
Who may be able to join
- Group 1: Study the molecular bases of OFD syndromes Patients from whom samples have been collected - declaration to the Ministry in progress Patients with an OFD syndrome with samples in the collection DC-2009-1045 and for which the declaration to the Ministry is in progress, will be included in this study. Indeed, the blood samples of 65 patients have been sent to us since 2002 for the study of the OFD l gene thanks to national and international recruitment: 35 presented clinical signs more or less associated with a mode of transmission suggesting OFD l syndrome and 30 presented other forms of OFD (OFDII, OFDVI, OFDVII, OFDVIII and OFDIX) or a polymalformative syndrome with OFD involvement (OFD+). We therefore constituted a second collection of DNA samples from 33 patients with OFD syndrome or a polymalformative syndrome with OFD involvement, who presented neither a mutation nor a rearrangement of the OFD1 gene.
- The clinical data are already available from Doctor Christel Thauvin-Robinet, who is responsible for this collection. These patients have signed a non-opposition form allowing the use of their blood samples for research on OFD syndromes. These patients will therefore be included in this new study without the need for new consent. Only an information letter will be sent to them (annexe 4A)
- Newly-included patients The inclusion criteria for patients are principally clinical and/or paraclinical, based on the clinical investigation usually conducted in the follow-up of these patients. Every index case must present an OFD syndrome with normal results for the study of the OFD1 gene by direct sequencing of genomic DNA and a search for major rearrangements using quantitative PCR. The index cases could be children (from birth onwards) or adults, male or female with sporadic or familial syndromes.
- Patients will be recruited by the clinical investigators of this study. These patients could be:
- patients already known by the investigator, who will contact the patient to invite them to take part in the research,
- or new patients seen during a consultation in the first year of the study (inclusion period) The clinical dossier that accompanies each sample will include a case report form, a family tree, photographs of the patient a signed written informed consent form Symptomatic and asymptomatic relatives may also be included in our study, once their written informed consent has been provided, so as to exclude polymorphism using CGH-array or molecular biology, or to confirm the segregation of a mutation.
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- Minors will only be included in our study if they are symptomatic. All of those who take part in this research, whether they are patients or healthy or asymptomatic relatives have to be covered by a national health insurance agency.
- Group 2: Study of the form of syndromic X-linked mental retardation secondary to mutations in the OFD1 gene Preexisting patient cohorts
- Two different types of populations could be included:
- Boys with Joubert syndrome with cerebellar hypoplasia at the origin of the "molar tooth" sign on cerebral MRI and a negative result for mutations in the genes involved in Joubert syndrome as described by Doctor Burglen (Hospital Trousseau, APHP)
- Boys with a phenotype that could be linked to mutations in the OFD1 gene:
- A cohort of boys with polydactyly+/- juvenile retinitis pigmentosa or obesity who were screened negative for BBS gene mutations recruited through Professor Dollfus (CHU Strasbourg)
- A cohort of males with severe macrocephaly (>+4SD) with negative screening for mutations in the GPC3 gene recruited through Doctor Rossignol (CHU Trousseau, Paris) and Doctor Raynaud (CHU Tours).
- A cohort of males with recurrent pulmonary infections, macrocephaly (>+4SD) and negative screening for mutations in the MECP2 gene recruited through Doctor Philippe (CHU Nancy), Doctor Badens (CHU Marseille), Professor Bieth (CHU Toulouse) and Professor Touraine (CHU St Etienne).
- The clinical dossier that accompanies each DNA sample will include a case report form, a family tree, photographs of the patient a signed written informed consent form
- Newly-included patients The inclusion criteria for patients are principally clinical and/or paraclinical, based on the clinical investigation usually conducted in the follow-up of these patients. All of the index cases will be males who must present: (1) Joubert syndrome with normal results for the genes responsible for Joubert syndrome or (3) syndromic mental retardation more or less associated with polydactyly, obesity, macrocephaly, pigmentary retinopathy, recurrent infections and/or the "molar tooth" sign on cerebral MRI. Index cases could be infants (from birth onwards) or adults, sporadic or familial cases with a mode of transmission compatible with X-linked inheritance.
- Patients will be recruited by the clinical investigators of this study. These patients could be:
- patients already known by the investigator, who will contact the patient to invite them to take part in the research,
- or new patients seen during a consultation in the first year of the study (inclusion period) The clinical dossier that accompanies each sample will include a case report form, a family tree, photographs of the patient a signed written informed consent form Symptomatic and asymptomatic relatives may also be included in our study, once their written informed consent has been provided, so as to exclude polymorphism using CGH-array or molecular biology, or to confirm the segregation of a mutation.
- Minors will only be included in our study if they are symptomatic. All of those who take part in this research, whether they are patients or healthy or asymptomatic relatives have to be covered by a national health insurance agency.
Who cannot join
- Patients will be excluded from the study if the clinical data do not meet the criteria defined above.
- Patients with OFD syndrome in whom sequencing of the exons or exon-intron junctions of the OFD1 gene of genomic DNA and the search for major rearrangements quantitative PCR identify a causal mutation will not be included in this study.
- The following patients will also be excluded from the study:
- those who do not wish to provide a blood sample,
- those who have not provided written informed consent,
- those without national health insurance,
- those in custody following a legal or administrative decision.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
CHU Dijon
Dijon, 21000
Christel Thauvin, 03.80.29.53.13, christel.thauvin@chu-dijon.fr
About this study
The aim of this multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome. These results will make it possible, from patients who have been clearly identified from a clinical, cytogenetic and molecular point of view, to determine a study strategy in such patients. The data obtained will be used to guide clinical geneticists in genetic counselling for patients and their families.
Identification of the molecular bases of the different OFD syndromes will make it possible to determine whether or not they belong to the group of ciliopathies like type I OFD and to understand their physiopathological bases.
Read more
This study will also make it possible to better characterise the phenotype of boys with syndromic mental retardation related to the OFD1 gene and thus to define the clinical criteria of the study of this gene in boys with mental retardation.
The complete absence of knowledge concerning the genetic bases of OFD syndromes, apart from type I, the presence of a large collection of samples from patients with OFD syndrome at Dijon CHU, the recognition of the diagnostic laboratory for syndromic OFD at the international level as well as the technical platform and expertise in molecular cytogenetic methods including CGH-array and molecular genetics (sequencing, quantitative PCR, fragment analysis) at the Cytogenetics and Molecular Biology laboratories at Dijon CHU justify the implementation of such a study in 2010.
- Conditions
- Orofaciodigital Syndromes
- Being tested
- Sampling of blood
- Medical subject headings
- Orofaciodigital Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sampling of bloodBiological
| Study group | Role | What they receive |
|---|---|---|
| Patients affected by a syndrome OFD | Not described Receives: Biological: Sampling of blood | |
| Patients AFFECTED BY A SEVERE MENTAL RETARDATION SYNDROMIQUE | Not described Receives: Biological: Sampling of blood |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood Samples
Measured: baselines
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2013 (estimated)
- Study startJun 2011
- Primary completionJun 2014 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Orofaciodigital SyndromesStudies 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 only
- Enrolment
- 133 participants (estimated)
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
- NCT01962129
- Sponsor's protocol ID
- Thauvin PHRC N 2010
- Acronym
- OFD1
- Status last verified
- Oct 2013
- First submitted
- 8 Oct 2013
- Last updated
- 14 Oct 2013
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Oct 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
- ClinicalTrials.gov ID
- NCT01962129
- Acronym / sponsor ID
- OFD1 / Thauvin PHRC N 2010
- Conditions
- Orofaciodigital Syndromes
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 133 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- Jun 2011
- Primary completion
- Jun 2014 (estimated)
- First posted
- 14 Oct 2013 (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 multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome. These results will make it possible, from patients who have been clearly identified from a clinical, cytogenetic and molecular point of view, to determine a study strategy in such patients. The data obtained will be used to guide clinical geneticists in genetic counselling for patients and their families.
Identification of the molecular bases of the different OFD syndromes will make it possible to determine whether or not they belong to the group of ciliopathies like type I OFD and to understand their physiopathological bases.
This study will also make it possible to better characterise the phenotype of boys with syndromic mental retardation related to the OFD1 gene and thus to define the clinical criteria of the study of this gene in boys with mental retardation.
The complete absence of knowledge concerning the genetic bases of OFD syndromes, apart from type I, the presence of a large collection of samples from patients with OFD syndrome at Dijon CHU, the recognition of the diagnostic laboratory for syndromic OFD at the international level as well as the technical platform and expertise in molecular cytogenetic methods including CGH-array and molecular genetics (sequencing, quantitative PCR, fragment analysis) at the Cytogenetics and Molecular Biology laboratories at Dijon CHU justify the implementation of such a study in 2010.
Study design
- Observational model
- Case only
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients affected by a syndrome OFD | – | Biological: Sampling of blood |
| Patients AFFECTED BY A SEVERE MENTAL RETARDATION SYNDROMIQUE | – | Biological: Sampling of blood |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Orofaciodigital Syndromes type I, type VII or other orofaciodigital syndromes
Key inclusion criteria (20 listed)
- Group 1: Study the molecular bases of OFD syndromes Patients from whom samples have been collected - declaration to the Ministry in progress Patients with an OFD syndrome with samples in the collection DC-2009-1045 and for which the declaration to the Ministry is in progress, will be included in this study. Indeed, the blood samples of 65 patients have been sent to us since 2002 for the study of the OFD l gene thanks to national and international recruitment: 35 presented clinical signs more or less associated with a mode of transmission suggesting OFD l syndrome and 30 presented other forms of OFD (OFDII, OFDVI, OFDVII, OFDVIII and OFDIX) or a polymalformative syndrome with OFD involvement (OFD+). We therefore constituted a second collection of DNA samples from 33 patients with OFD syndrome or a polymalformative syndrome with OFD involvement, who presented neither a mutation nor a rearrangement of the OFD1 gene.
- The clinical data are already available from Doctor Christel Thauvin-Robinet, who is responsible for this collection. These patients have signed a non-opposition form allowing the use of their blood samples for research on OFD syndromes. These patients will therefore be included in this new study without the need for new consent. Only an information letter will be sent to them (annexe 4A)
- Newly-included patients The inclusion criteria for patients are principally clinical and/or paraclinical, based on the clinical investigation usually conducted in the follow-up of these patients. Every index case must present an OFD syndrome with normal results for the study of the OFD1 gene by direct sequencing of genomic DNA and a search for major rearrangements using quantitative PCR. The index cases could be children (from birth onwards) or adults, male or female with sporadic or familial syndromes.
- Patients will be recruited by the clinical investigators of this study. These patients could be:
- patients already known by the investigator, who will contact the patient to invite them to take part in the research,
Key exclusion criteria (7 listed)
- Patients will be excluded from the study if the clinical data do not meet the criteria defined above.
- Patients with OFD syndrome in whom sequencing of the exons or exon-intron junctions of the OFD1 gene of genomic DNA and the search for major rearrangements quantitative PCR identify a causal mutation will not be included in this study.
- those who do not wish to provide a blood sample,
- those who have not provided written informed consent,
- those without national health insurance,
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 |
|---|---|---|
| Sampling of blood | Biological | Patients AFFECTED BY A SEVERE MENTAL RETARDATION SYNDROMIQUE, Patients affected by a syndrome OFD |
Primary outcome
Blood Samples
Time frame: baselines
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Oct 2013.
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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.
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 Orofaciodigital Syndromes, 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 20 inclusion and 7 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: status not confirmed, as of the sponsor's last update on 14 Oct 2013. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Christel Thauvin (03.80.29.53.13, christel.thauvin@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Blood Samples (time frame: baselines). 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 Oct 2013.