Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases

Launched by MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH · Aug 9, 2023

Keywords

ClinConnect Summary

This clinical trial is focused on using a new technology called RNA sequencing (RNA-Seq) to help diagnose rare genetic diseases in patients of all ages, including children. The goal is to identify genetic changes in patients who have symptoms of these disorders but have not received a clear diagnosis from previous genetic tests. The study will involve collecting skin samples from both healthy volunteers and patients with known genetic issues to develop and validate methods for analyzing RNA, which can provide important clues about the underlying causes of these diseases.

To be eligible for this study, participants should either be healthy adults, adults with known genetic diseases affecting RNA levels, or patients (children or adults) who have symptoms of a rare genetic disease but did not find any answers from earlier tests. Those who participate will have a chance to contribute to important research that could lead to better diagnostic tools for rare diseases. Before joining, all participants will need to understand the study's purpose and sign a consent form agreeing to take part.

Gender

ALL

Eligibility criteria

• • Healthy subjects.
• Inclusion Criteria:
• • Male and female adults
• • Written informed consent
• Exclusion Criteria:
• • Inability to understand the potential risk and benefits of the study
• • Legal incapacity
• • Validation cohort.
• Inclusion criteria:
• • Male and female adults
• • Genetic diseases affecting RNA levels (frameshifts, stop, large deletions, alteration of canonical splicing sites)
• • Written informed consent
• Exclusion criteria:
• • Underage patients
• • Inability to understand the potential risk and benefits of the study
• • Legal incapacity
• • Discovery cohort.
• Inclusion criteria:
• • Male and female patients (children and adults with onset in infancy or early adulthood) with rare genetic undiagnosed diseases
• • Patients with no strong candidates based on previous genetic analysis such as WES, but with clinically suspicion of a genetic rare disease
• • Written informed consent
• Exclusion criteria:
• • Inability to understand the potential risk and benefits of the study
• • Legal incapacity