Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotype… (NCT01962129) | Clinical Trial Compass
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Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
France133 participantsStarted 2011-06
Plain-language 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. 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.
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Inclusion Criteria:
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 conducte…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
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Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.