Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis

NCT04006535 | Recruiting

• 1 other identifier: 2019-A00188-49
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Vasculitis

Keywords

Vasculitis

Outcome Measures

Primary Outcomes (1)

• Identification of susceptibility loci and genes

  At the moment of enrollment

Interventions

genetic analysis GENETIC

Saliva sample collection for genetic analysis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult and childhood patients (no age limit) with familial and pediatric forms of vasculitis as defined in Chapel Hill's international nomenclature in its revised 2012 version.

You may qualify if:

• 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
• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Benjamin Terrier: lead

Study Sites (1)

Hôpital Cochin - Department of Internal Medicine

Paris, Île-de-France Region, 75014, France

RECRUITING

Related Links

• Related Info

Biospecimen

Retention: SAMPLES WITH DNA

Saliva samples will be collected for genetic analysis and identification of susceptibility loci and genes for the risk of vasculitis.

MeSH Terms

Conditions

Vasculitis

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Vascular Diseases; Cardiovascular Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Benjamin Terrier, MD, PhD

  French Vasculitis Study Group

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Benjamin Terrier, MD, PhD

CONTACT

+33 1 58 41 14 61; benjamin.terrier@aphp.fr

Hicham Kardaoui, MSc

CONTACT

+33 1 58 41 16 46; hicham.kardaoui@aphp.fr

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: July 1, 2019
• First Posted: July 5, 2019
• Study Start: June 1, 2019
• Primary Completion (Estimated): June 1, 2029
• Study Completion (Estimated): June 1, 2029
• Last Updated: July 8, 2019

Record last verified: 2019-07

Locations

FR (1)