Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis

Launched by BENJAMIN TERRIER · Jul 1, 2019

Keywords

ClinConnect Summary

The FAMILYVASC study is a research trial aimed at understanding the genetic factors that may make some people more likely to develop vasculitis, a condition that causes inflammation of the blood vessels. This study is open to both children and adults who have been diagnosed with vasculitis, as well as healthy participants who do not have the condition and are not closely related to anyone with vasculitis. Participants will provide saliva samples for genetic testing, which will help researchers identify specific genes associated with this disease.

To participate, individuals need to give their consent, and pregnant or breastfeeding women are welcome to join. However, those who cannot provide consent or have certain health issues that might affect their participation will be excluded. Throughout the study, participants can expect to contribute to important research that could lead to better understanding and treatment of vasculitis in the future. This study is currently recruiting participants, so it’s a great opportunity to get involved and help advance medical knowledge in this area.

Gender

ALL

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.