Clinical trial 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 study aims to see if a detailed gene test called RNA-Seq can find genetic changes that standard tests miss in people with rare diseases.
- Who it's for
- The study is looking for healthy volunteers, adults with known genetic conditions, and children or adults with undiagnosed rare diseases.
- What's involved
- Participants will have a small skin sample taken to grow cells in a lab. Researchers will also collect blood samples to test for genetic and protein changes.
- Time commitment
- The study involves specific lab tests on skin and blood samples, but the total duration is not specified in the provided text.
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
- Male and female adults
- Genetic diseases affecting RNA levels (frameshifts, stop, large deletions, alteration of canonical splicing sites)
- Underage patients
- Inability to understand the potential risk and benefits of the study
- Male and female patients (children and adults with onset in infancy or early adulthood) with rare genetic undiagnosed diseases
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
- Male and female adults
- Genetic diseases affecting RNA levels (frameshifts, stop, large deletions, alteration of canonical splicing sites)
- Underage patients
- Inability to understand the potential risk and benefits of the study
- 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
- Inability to understand the potential risk and benefits of the study
- Legal incapacity
The study team makes the final eligibility decision.
Where it is enrolling
- 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, but 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?
This study is enrolling now at Ranica, BG, Italy. Enter your location above to see the nearest enrolling site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool that is independent of the study sponsor. Details come from ClinicalTrials.gov. The study team decides eligibility, and your own doctor gives medical advice.