RecruitingOBSERVATIONAL

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases

This research is for people with rare diseases where the cause hasn't been found yet, even after genetic testing. Many rare diseases have a genetic root, but current methods sometimes miss more complex changes in our DNA. This study, called Solve-RD, will re-examine existing genetic information using new, advanced computer tools. It will also collect new samples from some patients and their parents to perform advanced 'multi-omics' tests. The goal is to uncover hidden genetic causes, improve how we diagnose rare diseases, and learn more about how these diseases work. This new knowledge could eventually lead to better treatments for patients.

At a glance

Status

Recruiting

Sponsor

Centre Hospitalier Universitaire Dijon

Enrolment target

Start

14 Nov 2019

Estimated completion

01 May 2026

Rare Diseases

What is this study about?

Many people with rare diseases don't know the exact cause of their condition, even after undergoing various medical tests. This can be very frustrating and make it harder to find the right care. This research project, called Solve-RD, focuses on helping people in this situation. It's especially interested in rare diseases that are thought to have a genetic cause, but where standard genetic tests haven't provided an answer.

The researchers believe that in many cases, the genetic cause is there but was simply too difficult to spot with older testing methods. They will use very advanced computer programs and statistical models to re-analyse existing genetic data from 18,000 patients across Europe. This is like looking at a puzzle with a stronger magnifying glass and new strategies to connect the pieces. In addition, for about 500 patients and their parents, they will collect new samples to perform even more detailed genetic and biological tests. By doing this, they hope to find previously missed genetic changes that explain why the disease is happening.

Finding these answers is incredibly important. Not only does it give patients and their families much-needed clarity, but it also helps doctors understand the disease better. This deeper understanding can lead to improved ways of diagnosing rare conditions and, in the future, might even open doors to developing new and more effective treatments. The project works closely with special European networks (ERNs) created to help patients with rare diseases, sharing knowledge and aiming to solve many currently 'unsolved' cases.

Key takeaways

Aims to find genetic causes for unsolved rare diseases.
Uses advanced techniques to re-analyse existing genetic data.
May involve providing new samples from patients and parents.
Could lead to better diagnosis and understanding of rare conditions.
Part of a large European initiative to help rare disease patients.
Participation requires your written consent and, usually, your parents' participation.

Who may be eligible?

This study is looking for people who have a rare disease where doctors haven't been able to find the exact genetic cause, even after looking at their genes before. You would need to have already had special genetic testing (called 'exome sequencing') that didn't provide an answer, but doctors still suspect your condition has a genetic root.

Crucially, to take part, you would need to have healthy parents who are also able to provide a sample. This is because comparing your genes to your parents' genes (this is called a 'trio analysis') is a really helpful way for researchers to spot new genetic changes that might have caused your condition.

To join, you or your legal guardian must have given your written permission for your samples and information to be used for research. Also, you need to be part of a national health insurance scheme, which generally means you're a resident of the UK or another participating European country.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Do I have a rare disease where the cause isn't known?
Have I already had genetic tests (like exome sequencing) that didn't find the answer?
Do doctors still think my condition might be genetic?
Are both my biological parents healthy and willing to take part?
Am I, or my legal guardian, willing to give written permission?

Answer every question to see your result.

What does participation involve?

If you join this study, it may involve providing new biological samples, such as blood, for advanced genetic tests. For many participants, the study will mainly involve researchers looking again at your existing genetic test results and medical information that has already been collected. If new samples are needed, you will be contacted to arrange this. The research team will guide you through the process if new samples are required. There are no specific study visits or medications involved, and the follow-up will be focused on the scientific analysis of your samples and data. The overall duration is linked to the research project rather than individual patient follow-up. For those whose existing data is re-analysed, no new presence or action from you will be required.

Potential risks and benefits

A potential benefit of joining this study is the chance to find the specific genetic cause of your rare disease, which currently remains a mystery. This could lead to a clearer diagnosis and a better understanding of your condition. It might even help pave the way for future treatments for your disease, and others like it. The main 'risk,' if new samples are taken, would be the minor discomfort from giving a blood sample. There are no anticipated serious physical risks from simply providing samples. You always have the right to withdraw from the study at any time, without giving a reason, and this would not affect your standard medical care.

Locations (1)

CHU de Dijon
Verified postcode
Dijon, France· Recruiting

Common questions

What kind of rare diseases are included?

The study focuses on rare diseases where a genetic cause is suspected but hasn't been found yet, as selected by the Solve-RD research team.

Do I need to travel for this study?

For many, existing data will be used, so no travel is needed. If new samples are required, arrangements will be made locally as far as possible.

Will I get my test results back?

The primary aim is research. If a new, clear genetic diagnosis is found that could impact your care, your doctor will be informed through the appropriate clinical channels.

What are 'biological samples'?

These generally refer to things like blood, saliva, or tissue that contain your genetic information, used for laboratory tests.

What does 'trio analysis' mean?

It means comparing genetic information from you and both of your biological parents to help identify new genetic changes that might be causing your condition.

How to find out more

Laurence OLIVIER-FAIVRE

laurence.faivre@chu-dijon.fr 03.80.29.53.13 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.