Not yet recruitingNAINTERVENTIONAL

Initiative for Clinical Long-read Sequencing

This study is looking at a new, more detailed genetic test called "long-read sequencing." Doctors hope this test will be much better at finding the exact genetic reasons behind certain conditions, especially for people with rare diseases, brain development issues, or a higher risk of cancer where the cause isn't clear yet. They are comparing this new test to older methods to see how well it works. The goal is to make this advanced testing a regular part of how doctors find answers for patients, helping to understand complex genetic changes that current tests might miss. This could lead to more accurate diagnoses and better support for patients.

At a glance

Status

Not yet recruiting

Phase

Sponsor

University Hospital Tuebingen

Enrolment target

500

Start

01 Dec 2023

Estimated completion

01 Dec 2026

Genetic Predisposition

What is this study about?

Imagine your genes are like a very long book of instructions for your body. Sometimes, there are tiny spelling mistakes or even whole missing or extra pages that can cause health problems. Current genetic tests often read only small parts of this book, like single words or short sentences. This study is exploring a new, more advanced type of genetic testing called "long-read sequencing" that can read much longer sections, almost like reading whole paragraphs or even chapters at once.

Researchers believe this new method will be much better at finding more complex changes in our genetic code that the older, traditional tests often miss. These complex changes are particularly important in understanding conditions like rare diseases, difficulties with brain development, and certain inherited cancer risks. By being able to read longer sections, scientists hope to get a clearer, more complete picture of a person's genetic make-up, leading to more accurate diagnoses.

The main goal of this study is to show that this new long-read sequencing is a better way to diagnose conditions caused by genetic changes. If it proves to be more effective, the researchers plan to create clear guidelines and tools so that this advanced testing can become a regular part of how doctors and genetic specialists in the UK and Germany help patients. They are also building a valuable collection of genetic information to help guide future discoveries.

Key takeaways

Exploring advanced genetic testing (long-read sequencing) for clearer diagnoses.
Aims to find genetic causes for rare diseases, neurological issues, and cancer risks.
Hopes to detect complex genetic changes missed by older tests.
The goal is to make this new testing a regular part of medical care.
Primarily for individuals with undiagnosed suspected genetic conditions.

Who may be eligible?

This study is looking for people who might have a genetic condition but haven't yet received a clear diagnosis, even after other genetic tests. This includes individuals with suspected genetic causes for their health issues, such as those with rare diseases, neurological problems, or developmental delays.

They are particularly interested in patients where previous genetic testing didn't find a clear answer regarding the cause of their health problems. This means that if doctors suspect your condition is genetic but the exact reason isn't known, you might be suitable for this study.

However, you wouldn't be able to join if you or your legal guardian (if applicable) do not agree to participate and provide your informed consent.

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 health condition that doctors suspect is genetic?
Have previous genetic tests not found a clear answer for my condition?
Do I have a rare disease, a neurological problem, or a developmental issue?
Am I, or my legal guardian, willing to give permission to participate in genetic testing research?

Answer every question to see your result.

What does participation involve?

The study does not specify particular visits or assessments in detail, as its primary focus is on developing and comparing genetic testing methods. If you were to participate, it would likely involve providing a sample (such as blood or saliva) for genetic analysis. The study aims to make this new genetic testing a routine part of clinical care, so your involvement might be integrated into your usual medical investigations if you fit the criteria. The duration of your personal involvement, beyond sample collection, is not explicitly stated, but the overall study involves long-term development of these genetic testing methods. There is no mention of taking any specific medication as part of this research.

Potential risks and benefits

Participating in this study might offer the benefit of potentially finding a clearer genetic diagnosis for your condition, especially if previous tests haven't provided answers. This could help doctors better understand your health and guide future care. However, it's important to remember that this is a research study, and there's no guarantee of a new diagnosis. The primary risk involves the possibility that your genetic information could be misinterpreted, or that genetic findings could raise new questions or anxieties. All participants have the right to withdraw from the study at any time without their medical care being affected.

Locations (1)

University Hospital Tübingen
Verified postcode
Tübingen, Germany

Common questions

What is 'long-read sequencing'?

It's an advanced genetic test that reads much longer sections of your DNA, helping to find complex changes that standard tests often miss.

Who is this study for?

It's for people with suspected genetic conditions, rare diseases, or developmental issues where the exact genetic cause hasn't been found yet.

Will this study give me a diagnosis?

It aims to improve diagnosis, and it might provide new insights into your condition, but there's no guarantee of a new diagnosis.

What kind of sample is needed?

Typically, genetic studies like this use blood or saliva samples for DNA analysis.

Who is running this study?

It's a multi-centre study involving researchers in Germany, with the aim to set up guidelines for wider use in places like the UK.

How to find out more

Tobias Haack, Dr.

tobias.haack@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.