Scientific research is the process of searching for and collecting information known as data in a well thought out way using various scientific methods and techniques then interpreting and evaluating that data. The aim of research is to gain new knowledge or to validate existing knowledge, this is done by formulating and testing various hypotheses.
With so few available treatments, we understand that research is a significant priority and source of hope for the leukodystrophy community. However, with average costs for research development at £1.5 billion, this is far outside the remit of small patient groups such as Alex TLC. This is why we actively promote, influence and support research by ensuring patient voice is front and centre of leukodystrophy related research.
Research can take a long time as there are many steps involved to get from an idea to a finished product. It is important to make sure the developments being made really are in the best interest of the patients.
Before clinical trials can start, data needs to be collected on the research development (drug, test, device) showing that it is promising. This is done in laboratory research and studies for that condition or disease, often in cell cultures or animal models, before it can be approved to be tested in humans. This can take several years. For more information on how drugs are developed, you can read this page from Pfizer about developing new medicines.
There are four common types of study done in the laboratory, in vivo, in vitro, ex vivo and in silico.
In vitro is Latin for “within the glass”, these are experiments that are done in a controlled environment outside of an organism like a petri dish or test tube using cells or other biological components. Cell cultures of patient cells are a form of in vitro studies and allow researchers to understand how cells respond.
Ex vivo is Latin for “out of the living”, these are experiments that are done on the living tissues from organisms in an external environment. Brain slices of animal models are a form of ex vivo studies.
In silico is fake Latin for “in silicon” referring to the study performed on computers or computer simulation, modelling laboratory processes. These are often used to study how novel therapeutics interact with biological tissues in molecular modelling, drug repurposing screening and more.
In vivo is Latin for “within the living”, these are experiments that are done in whole living organisms such as humans, animals, or plants. Animal models such as mouse and zebrafish models are often used for preclinical studies to model a disease as a way to understand the effects of the study on a living body prior to studies in humans. Clinical trials are a form of in vivo research, this allows the effects of an experiment on a living organism to be observed.
Once the study is approved for testing in humans, the clinical trials can begin.
Clinical trials are a type of research that studies and looks for new ways to prevent, detect or treat diseases. This can include studying new tests, treatments, surgical procedures, and preventative care. As the main goal of clinical trials is to determine the safety and effectiveness of these medical interventions, people volunteer to participate so the health outcomes can be evaluated.
There are four phases in a clinical trial, each needing to be approved before moving onto the next. During Phase 1 the safety in humans is studied in a small group for possible side effects and dosing, it often involves healthy volunteers. Phases 2 and 3 include larger patient groups, usually including a control or placebo group for comparison. Phase 4 happens after a drug has been proven to work and been licensed but continues to be studied while used in practice. It looks into further side effects, safety, long term risks and benefits, and how the drug works in more people over more time. At our Community Weekend 2024 Dr David Lynch presented an explanation on clinical trials, to view it, click here or watch the recording here.
Depending on the clinical trial, different participants will be needed, including both healthy individuals and patients with the relevant condition being studied. The protocol of the trial will describe the eligibility criteria for that study and only people who meet the criteria are able to take part. People of a diverse range of ethnic and racial backgrounds are encouraged to participate in clinical trials.
Natural history studies are observational studies that follow a group of people who have or are at risk of developing a specific disease or condition. The purpose is to collect data and clinical information on the natural history and progression of the disease without treatment. Data can include age at diagnosis, genetic testing results, symptoms, medical information, patient, family and caregiver experience.
Most patients with the condition that will be observed in the natural history study can take part.
Patient registries collect and store information about patients with a specific disease. They can be used to monitor and improve patient care, identify trends, study best care practices, recruit patients for clinical trials and connect patients to researchers.
Most patients with the disease that will be observed in the patient registry can take part.
To find out more about Alex TLC’s involvement in research, visit our Research and Alex TLC page.
Our current research page includes current clinical trials, natural history studies, and patient registries.
Read about one of our research partnerships on our LEUKOLABS page.
For more information about clinical research, visit the UHS Health Research page
We understand that research is a high priority for patients and families affected by leukodystrophy, but often the processes and language used can be inaccessible for those without a scientific background. If you would like to know more about research development, clinical trials and licencing, EUPATI (The European Patients’ Academy) have developed a really useful toolkit, available in a variety of different languages. EUPATI focuses on education and training to increase patients’ ability to understand and contribute to medicines research and development, and improve the availability of objective, reliable, patient-friendly information for the public.
