RecruitingOBSERVATIONAL

Genetic Causes of Discrepant Clinic in Monogenic Twins

The DISCO-TWIN study is for identical twins where one twin has a rare illness that doctors haven't been able to diagnose yet, and the other twin is healthy. Researchers will use special genetic tests, called 'omics technologies', to look very closely at their genes and biology. They might also re-examine existing test results. The information collected will be shared securely among experts at the University Hospital Tübingen and with other researchers. The main aim is to discover what's causing the illness in the affected twin, which could lead to a better diagnosis and understanding of these rare conditions for others in the future.

At a glance

Status

Recruiting

Sponsor

University Hospital Tuebingen

Enrolment target

Start

01 Dec 2019

Estimated completion

01 Dec 2027

Rare Diseases Genetic Predisposition to Disease

What is this study about?

Imagine you have an identical twin, but while you're perfectly healthy, your twin has a mysterious illness that doctors haven't been able to explain. This study, called DISCO-TWIN, is designed for exactly these kinds of twin pairs. Identical twins share almost all their genes, so when one is sick and the other isn't, it gives scientists a unique chance to look for small, crucial genetic differences that might be causing the illness.

The researchers will use very advanced genetic testing methods to examine your genes and other biological information. Think of it like a super-detailed detective investigation into your body's instruction manual. They'll compare the genetic makeup of the sick twin with the healthy twin to try and pinpoint what's gone wrong. They might also look again at any genetic tests you've had in the past.

The main reason for doing this study is to improve our understanding and diagnosis of rare and difficult-to-explain illnesses. By finding the genetic causes in these twin pairs, doctors hope to get clearer answers for patients, which can sometimes lead to better care or even new treatments down the line. All the information gathered will be kept private and shared only with other medical experts involved in the study to help piece together the puzzle.

Key takeaways

Looks for genetic causes of undiagnosed rare illnesses in identical twins.
Compares the genes of a sick twin with their healthy twin.
Uses advanced genetic tests, such as 'omics technologies'.
Aims to improve diagnosis and understanding of these challenging conditions.
Participation requires full consent from both twins.

Who may be eligible?

This study is looking for very specific people. You might be able to take part if you are an identical twin. Importantly, one of you must have an illness that doctors haven't been able to diagnose and is thought to have a genetic cause, while your twin is healthy.

It's crucial that everyone involved agrees to take part. This means both twins, or their legal guardians if they are too young, must give their written permission. The study is open to people of all ages.

You would not be able to join if either twin doesn't want to participate, or if the illness isn't clearly defined or doesn't seem to be caused by a genetic problem. The aim is to help those with baffling, potentially genetic, conditions.

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.

Are you an identical twin?
Does one twin have a rare illness that doctors haven't figured out?
Is the other twin healthy?
Do you suspect your illness might have a genetic cause?
Are both you and your twin willing to take part and give consent?

Answer every question to see your result.

What does participation involve?

The study does not involve taking any new medications. You would most likely be asked to provide samples for genetic testing, such as blood or saliva. The researchers will also carefully review your existing medical records and test results to gather as much information as possible about your illness and your healthy twin's well-being. There may be some follow-up appointments to discuss the findings, but details about the number of visits or the total length of your involvement aren't specified. It's focused on understanding your individual genetic profile.

Potential risks and benefits

A potential benefit of taking part is that the study might provide a diagnosis for a long-standing, unexplained illness, which could bring clarity and potentially guide future medical care. However, there's no guarantee a diagnosis will be found. The main risk involved would be the discomfort of providing samples, like a blood draw, which typically has minor and temporary side effects such as bruising. Your genetic information will be handled with strict privacy. Remember, you have the right to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (1)

University Hospital Tübingen
Verified postcode
Tübingen, Germany· Recruiting

Common questions

What kind of twins can join this study?

Only identical twins can join, where one twin is healthy and the other has an undiagnosed illness.

What tests will I have if I join?

You'll have advanced genetic tests, likely from blood samples, to look at your genes in detail.

Will this study cure my illness?

The study aims to find the cause of your illness, but it doesn't offer a cure. A diagnosis can sometimes lead to better treatment options.

Is my personal information safe?

Yes, all your genetic and medical information will be kept strictly private and shared only with research experts.

Do both twins have to agree to take part?

Yes, both twins (or their legal guardians) must give their informed consent to participate in the study.

How to find out more

Jeannette Hübener-Schmid, Dr.

jeannette.huebener@med.uni-tuebingen.de +49 7071 29 Official trial record

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