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

RecruitingNAAges any - anyAllMario Negri Institute for Pharmacological Research
NCT05996731 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES. * Objective 1: Set up and validate techniques. Set-up and validation of the transcriptome analysis protocol in healthy subjects and in patients with known splicing alterations and/or altered RNA expression. * Objective 2: Diagnostic phase. Study of splicing alterations and RNA levels in cultured fibroblasts obtained from skin biopsies of patients with rare genetic diseases and negative exome. Exploratory goals * Compare the RNA expression profile obtained from skin biopsy-derived fibroblasts with the RNA expression profile from blood. The most relevant results will be validated in qRT-PCR. * To analyze the transcriptional and protein profile heterogeneity in skin-derived fibroblasts in enrolled s

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📋 Eligibility rules (as published)
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
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What it tests

  • Skin biopsy
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Where

1 site
Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"
Ranica, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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