Status:
RECRUITING
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
Lead Sponsor:
Mario Negri Institute for Pharmacological Research
Conditions:
Atypical Hemolytic Uremic Syndrome
Membranoproliferative Glomerulonephritis
Eligibility:
All Genders
Phase:
NA
Brief Summary
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. * Objec...
Detailed Description
Rare genetic diseases are a very heterogeneous group of diseases, often undiagnosed, for which patients receive only symptomatic treatment. The development of next-generation massive sequencing techno...
Eligibility Criteria
Inclusion
- Healthy subjects.
- Male and female adults
- Written informed consent
Exclusion
- 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
Key Trial Info
Start Date :
February 21 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
September 1 2025
Estimated Enrollment :
105 Patients enrolled
Trial Details
Trial ID
NCT05996731
Start Date
February 21 2024
End Date
September 1 2025
Last Update
May 9 2025
Active Locations (1)
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1
Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"
Ranica, BG, Italy, 24020