Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: genetic analysis.
- Who it may be relevant to
- Registry conditions: Vasculitis. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Identification of Susceptibility Loci and Genes for Systemic Vasculitis Risk, by Analyzing Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis (FAMILYVASC Study)
Overview
The FAMILYVASC study is a prospective observational study which will aim to identify susceptibility loci and genes for systemic vasculitis risk in patients with familial or pediatric forms of vasculitis. Genetic analysis based on whole exome sequencing will be carried out through salivary DNA.
Interventions
- Genetic genetic analysis
Saliva sample collection for genetic analysis
Primary outcome measures
- Identification of susceptibility loci and genes [Time frame: At the moment of enrollment]
Eligibility criteria
Inclusion criteria for subjects with vasculitis
- Children and adults
- Patients with vasculitis, as defined in the Chapel Hill International Classification in its revised version of 2012
- Patient information and signed informed consent
- Pregnant and breastfeeding women can be included in the study
Inclusion criteria for healthy subjects
- Children and adults
- Do not have vasculitis, as defined in the Chapel Hill International Classification in its revised version of 2012, or relatives on the 1st; 2nd; 3rd or 4th degree of a patient with vasculitis
- Patient information and signed informed consent
- Pregnant and breastfeeding women can be included in the study
Exclusion criteria
- Refusal of consent or inability to obtain consent
- Dementia or unauthorized patient, for psychiatric or intellectual failure reasons, to receive information about the protocol and to give informed consent.
- Uncooperative patient, or any pathology that could make the patient potentially non-compliant to the study procedures, and patients interned for regulatory or legal reasons.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Family-based
Study locations
France · 1 center
- Hôpital Cochin - Department of Internal Medicine — Paris
Identifiers
NCT: NCT04006535 · 2019-A00188-49