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New treatment option for Atypical Hemolytic Uremic Syndrome
Official title Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
ClinicalTrials.gov ID: NCT05996731
What this study is testing
- What it's testing
- 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.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Adults. Healthy volunteers may be eligible.
You may be able to join if
- Healthy people.
- Male and female adults
- Written informed consent
You likely can't join if
- 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
See the full eligibility criteria
- Healthy people.
- Male and female adults
- Written informed consent
- 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
The study team makes the final eligibility decision.
Where it's taking place
- Ranica, BG, Italy
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, not specified. Healthy volunteers may be eligible. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Ranica, BG, Italy. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.