Thinking of joining a study?

Register your interest

Become a volunteer?

NCT06926127 | RECRUITING | Rare Diseases

Genomic Profiling of Genetic and Rare Diseases
Sponsor:

Agostino Gemelli IRCCS University Polyclinic University Foundation

Brief Summary:

In Italy, over 2 million patients are affected by Rare Diseases (RD), which pose significant challenges due to their clinical diversity, long diagnostic processes (often 4-5 years), and high socio-healthcare costs. The Italian healthcare system has recognized these challenges, leading to initiatives like a national Rare Diseases (RD) registry, a comprehensive list of Rare Diseases (RDs) eligible for healthcare exemptions, and the establishment of a National Committee for Rare Diseases. Research on the genetic mechanisms of Rare Diseases (RDs) is robust, particularly for innovative therapies, and ranks second to oncology. The Policlinico Universitario A. Gemelli IRCCS Foundation serves as a key reference institute for Rare Diseases (RD) in Lazio, managing over 10,000 patients through accredited centers. A recent initiative aims to enhance the Rare Diseases network by integrating genomic knowledge with clinical practice. The project focuses on utilizing Next Generation Sequencing (NGS) for early genetic diagnosis, promoting personalized medicine. Given the challenges the National Health Service faces in resource allocation for Rare Diseases (RD) and the recent approval of a new outpatient healthcare tariff, this initiative is timely. The foundation seeks to replace targeted genetic tests with Whole Exome Sequencing (WES), increasing the identification of molecular conditions and reducing diagnostic turnaround times.

Condition or disease

Rare Diseases

Genetic Disease

Intervention/treatment

Whole Exome Sequencing (WES)

Phase

NA

Study Type : INTERVENTIONAL
Estimated Enrollment : 1500 participants
Masking : NONE
Primary Purpose : DIAGNOSTIC
Official Title : Genomic Profiling of GENetic & RARE Diseases for the Customization of Care and Prevention Pathways
Actual Study Start Date : 2024-11-05
Estimated Primary Completion Date : 2026-04-30
Estimated Study Completion Date : 2030-02-28

Information not available for Arms and Intervention/treatment

Ages Eligible for Study: 1 Minute to 90 Years
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
Criteria
Inclusion Criteria
  • * Age 0-90 years
  • * Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis
  • * Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition
  • * Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results
  • * Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway.
Exclusion Criteria
  • * Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.
Genomic Profiling of Genetic and Rare Diseases

Location Details

NCT06926127

Please Choose a site

How to Participate

Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.

Locations

RECRUITING

Italy, Lazio

University Polyclinic Foundation A. Gemelli IRCCS, UOC Pediatrics

Roma, Lazio, Italy, 00168