Researchers at Queen’s University Belfast receive the 1st scientific research grant awarded by MDS UK

Janet says:

The program this year was heavily scientific. The presentations showed the ever increasing complexity of both evolution of MDS and the diagnosis. it is clear that the science has moved on tremendously in the past decade. The list of somatic mutations acquired in MDS is ever growing and the understanding of which of these genes does not respond or does respond continues to evolve. Challenges remain due to the heterogeneity (patients having more than one acquired mutation) that presents major challenges for treatment strategies.

A large team from Denmark presented their news and developments for patient services. These services included a Chemotherapy at Home, or mobile chemotherapy option, enabling patients to lead as normal a life as possible, whilst receiving their treatment. It also covered a patient peer to peer support scheme, as well as an exercise regime to help boost energy for AML and MDS patients.

Chemotherapy at Home scheme at King’s College Hospital

Her second talk introduced the Chemotherapy at Home scheme that will soon be in place at King’s College Hospital.

Click here or on the image to read and download Janet Hayden's presentation.

The Benefits for Patients

From the patient point of view there are a number of patients who struggle with travelling and travel costs. They experience long waiting times, increasing time off work for the patient and their carer.

In addition, the fact that they do not need to stay at the hospital environment while receiving treatment reduces their risk of infection so patients may choose chemotherapy at home to avoid the regular trips to the hospital.

The Benefits for the NHS

Moving care out of a hospital setting, is an important goal for the Institute’s and the broader NHS. There is evidence that it improves patient experience and quality of life, while reducing NHS burden and costs. As it releases capacity from busy outpatient clinics the scheme will help to improve NHS ability to deliver effective care.

The scheme has proven to be the preferred option by patients in Birmingham and other areas. Both King's College Hospital NHS and Guy's and St Thomas' NHS Foundation Trust staff are very supportive of the initiative, citing the positive impact it could have on patients.

Chemo at Home could be financially sustainable, and cheaper for the Institute than traditional clinics.

Exclusive photos given anonymously to MDS UK have captured the moment a mysterious red creature seemed to walk on the streets of London raising awareness of MDS on Blood Cancer Awareness Month.

In one the photos, the red figure appears reading the newspaper on the train, while next to it a surprised Londoner makes desperate attempts to ignore it by looking at her phone.

Passersby on the train station appeared amused by the creature and were not afraid of sharing a ride on the escalators with the seemingly supernatural being.

In many images, the red figure can be seen displaying a sign attracting attention to MDS UK Patient Support Group!

Taxi drivers and tourists at London main attractions were today reminded by the outlandish creature that September is Blood Cancer Awareness Month, and many people next to them may suffer from this “invisible” disease.

According to members of the charity, the supernatural being has done an amazing job at raising awareness of MDS.

The CEO of MDS UK, Sophie Wintrich, said: "We are looking for the mystery red figure to thank it immensely on behalf of MDS patients and their families."

Online users have however questioned whether the photos are real or not.

Laurence Llewelyn-Bowen is the official ambassador for Make Blood Cancer Visible 2019.

Since 2016, inherited forms of myeloid malignancies, including MDS, have been included as a separate disease entity in the World Health Organisation (WHO) classification of haematological cancers.

This is leading to a greater awareness on behalf of haematologists regarding the existence of these forms of disease, enabling more tailored management of this group of at-risk individuals.

This is important, as patients with ‘familial MDS’ (i.e. with a predisposing mutation present in every cell) tend to develop symptoms at a much younger age compared to people with ‘sporadic disease’ (i.e. mutations are restricted to the MDS only).

We also appreciate that MDS can arise as part of a wider syndrome, with many patients/families initially exhibiting bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, and Shwachman–Diamond syndrome which often subsequently lead to MDS.

Why is it important to identify patients with familial MDS?

Our research is demonstrating that there isn’t a singly mutated gene responsible for familial MDS but many different genes,
some of which are also mutated in sporadic forms of the disease (RUNX1, GATA2). In comparison other mutations (in the germline) appear enriched or exclusive to inherited forms of MDS (DDX41, SAMD9) and this is offering researchers novel insights into the causes of MDS and the prospect of developing better treatments for all MDS patients.

It is, therefore, important that, when a new patient is diagnosed with MDS in the clinic, steps are taken to determine whether the disease has a significant genetic-inherited component. This is crucial, as in some subtypes of inherited/familial MDS subsequent therapy must be modified.

• For example, if a patient has MDS associated with an underlying telomerase mutation then the chemotherapy conditioning regimen performed prior to a bone marrow transplant has to be reduced.
• Equally, a haematologist would want to ensure that, in selecting bone marrow/stem cell donors, an asymptomatic family member with the same genetic defect is not used as the donor as the recipient could go on to develop MDS again at a later time point./li>

How does precision medicine work?

When a patient signs up for the trial, they are given a standard protocol treatment depending on the disease and the stage of the disease.

While the patient gets the protocol treatment' clinicians and researchers get to work: blood and bone marrow samples are collected from the patient. The patient's tumor cells are then screened in the labs against treatment effect from one or two of more than 400 already commercially available drugs.

If a drug or mixture of drugs shows a positive effect on the patient's cancer cells, then the second step is initiated. This involved growing the patient's cancer cells in the lab. Once enough cells are available they are injected into a mouse together with some of the microenvironment from the patient's bone marrow.

Then the researcher treats the mouse with the drug or drug mixture showed as having a positive effect during the laboratory screening.

If the mouse is successfully treated, then the clinicians have a precision medicine which, in Denmark, can be legally offered to the patient in the clinic.

Doctors in Denmark are allowed to use drugs off-label if they have evidence that the treatment works. This has been done for many years with EPO-like substances to improve red blood cell counts in low risk MDS patients.

Simultaneously, a whole genome next generation sequencing of the samples from the patient is performed to identify the specific mutations in the patient's cancer cells. This helps researchers to understand why a particular drug or drug mixture have a positive effect, and add the laboratory screening.

A scientific article published by the University of Copenhagen, Danish Research Center for Precision Medicine of Blood Cancer, explains that the program aims at improving the immediate and long-term outcome for blood cancer patients by coordinating and strengthening ongoing blood cancer research into a program pursuing research questions and integrating results from bench-to-bedside and bedside-to-bench.

The goal is to optimize the use of already approved drugs, identify new targets for therapy, develop novel therapies, test potential novel drugs in pre-clinical models, and collaborate with pharmaceutical companies on developing new drugs and test these and other novel drugs in Phase I-II clinical trials.

Professor Kirsten Grønbæk, PTH Professor and Chief Physician at Rigshospitalet, says:

Via 'drug screening' the cancer stem cells from the individual patient could be exposed to 400 different drugs.

In this way, we hope to find the medicine that accurately affects the individual's cancer stem cells, which is the cause for the cancer to return.

At the same time, we will try to find the molecular changes that indicate that this is the perfect treatment. For some patients, we will immediately find one or more drugs that work, but not for all who are in the need for treatment.

The idea is that while we try to treat a specific patient, we also learn something for the benefit of future patients.

The Harmony Alliance aims to develop treatments that are:

• more effective
• have fewer side-effects
• secure a higher quality of life

However the best possible treatment may differ from one person to another. This is partly due to biological differences such as the genetic characteristics of the tumor cells.

By studying big amounts of data, researchers can learn how to predict the development of a particular disease and how certain subgroups of patients will respond to treatment.

This should result in tools that will enable clinicians and doctors to rapidly select the most promising treatment for a particular patient.

The Harmony Alliance has developed very careful data-handling procedures to provide maximum protection of the patients’ privacy, while leaving the data rich enough for meaningful scientific analysis.

Watch this video to understand how Harmony ensures high quality and secure data that will help improve the treatment of blood cancers.