RecruitingOBSERVATIONAL

Solving Riddles Through Sequencing

This study, called "Solving Riddles Through Sequencing," explores advanced genetic testing to help diagnose tricky cases of blood cancers, like some types of leukaemia and lymphoma, or other complex blood conditions. While current tests successfully diagnose most people, about 10% of cases are still a puzzle for doctors. This research aims to see if looking very closely at a person's genes (using a method called whole genome and whole transcriptome sequencing) can offer a more complete picture of their condition. The goal is to provide clearer, more accurate diagnoses, which can then guide doctors to the best treatment choices for these challenging situations.

At a glance

Status

Recruiting

Sponsor

Munich Leukemia Laboratory

Enrolment target

100

Start

19 Jan 2022

Estimated completion

01 Oct 2026

Leukemia Hematologic Malignancy Rare Diseases Refractory Leukemia Refractory Lymphoma Unknown Primary Tumors

What is this study about?

When doctors treat blood cancers like leukaemia, getting the right diagnosis is incredibly important. Over the years, medical science has made huge strides, and we now have many good ways to figure out what's going on. Usually, doctors use several standard tests, like looking at blood samples under a microscope, checking bone marrow, and doing other genetic tests. These methods work really well for most people, giving doctors the clear answers they need to plan treatment.

However, for about one in ten people, the standard tests don't give a clear enough answer. These can be very complex cases where the condition behaves unusually, or it's hard to tell exactly what it is. This study is specially designed to help people in this situation. It focuses on using brand-new, very detailed genetic tests, called "whole genome and whole transcriptome sequencing", to examine the genes in a person's cancer cells. Think of it like taking a super high-resolution photo of the cancer's genetic makeup, rather than just a standard picture.

The main idea behind this research is to see if these advanced genetic tests can provide a much clearer and more accurate diagnosis for these challenging cases. If they can, it would be a big step forward in helping doctors understand these complex conditions better and make the best possible treatment decisions for each individual. The study hopes to show that these new tests can solve some of the diagnostic "riddles" that current methods can't.

Key takeaways

This study helps diagnose complicated blood cancers.
It uses advanced genetic testing to get clearer answers.
No new tests or clinic visits are needed for participants.
It aims to improve diagnosis for future patients.
Your privacy is protected, and you can withdraw at any time.

Who may be eligible?

You might be able to take part in this study if you are at least 18 years old and have a suspected blood disorder or blood cancer, but your doctors haven't been able to give you a clear diagnosis using standard tests.

This could also apply if your condition is behaving in an unusual way, hasn't responded to treatment as expected, or if you have several blood conditions at once that are hard to figure out. The study is looking for cases where the current diagnosis isn't quite clear enough to guide the best treatment.

However, your blood or bone marrow samples need to be of good quality and have enough cancer cells (at least 20%) for the special genetic tests to work properly. You also need to agree to take part by giving 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.

Are you at least 18 years old?
Do you have a suspected blood disorder or cancer?
Has your diagnosis been unclear or unusual after standard tests?
Are your existing blood or bone marrow samples of good quality for testing?
Are you willing to provide informed consent for your samples to be used?

Answer every question to see your result.

What does participation involve?

This study involves looking at samples of your blood or bone marrow that have already been collected as part of your normal medical care. You won't be asked to give new samples specifically for this study. There are no extra hospital visits, assessments, or medications involved. The researchers will simply use existing samples that your doctors have already taken. The main thing involved for you is giving your permission (informed consent) for your anonymised samples and medical information to be used in this research. The total duration for you as a participant primarily involves the time it takes to understand the study and provide consent; there are no ongoing requirements for you.

Potential risks and benefits

There are no direct medical benefits to you from taking part in this specific study, as it primarily uses existing samples for research. However, the information gained could greatly benefit future patients by improving diagnosis of complex blood cancers. There are no physical risks to you because no new tests or procedures are done. Your personal information will be kept private and handled with care. You are free to withdraw your consent at any time without it affecting your medical care.

Locations (1)

MLL Munich Leukemia Laboratory
Verified postcode
Munich, Germany· Recruiting

Common questions

What kind of conditions is this study looking at?

It's looking at tough-to-diagnose blood cancers and disorders, particularly when standard tests haven't given a clear answer.

Will I have to have extra tests or appointments?

No, you won't. This study uses samples that your doctors have already taken as part of your normal care.

What does 'genetic sequencing' mean in simple terms?

It's a way of looking very, very closely at the genetic code in your cells to find clues about your condition.

Is my information kept private?

Yes, all your personal information is handled confidentially and securely to protect your privacy.

Can I change my mind about being in the study?

Yes, you can withdraw your consent to be part of the study at any time, and it won't affect your medical treatment.

How to find out more

Torsten Haferlach, MD

torsten.haferlach@mll.com +49 (0)89 99017-100 Official trial record

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