What does a CTU do?

Academics and researchers are absolutely fantastic when it comes to science. But when it comes to running clinical trials and all the regulations surrounding them, they need a little bit of help moving forward. That’s where a Clinical Trials Unit, or CTU, comes in.

Connecting with other organisations

MCDS is a rare genetic skeletal disease. There are plenty of organisations and networks around the world who patients, families and doctors can get information and support from. There are no other organisations focused on MCDS but the list below features many which are specific to skeletal dysplasia or rare diseases.

International

Europe

UK

Australia

Belgium

France

Germany

Italy

Why are we doing biomarker discovery?

What is a biomarker and why is the MCDS-Therapy team trying to find one? Sciomics, the partner focusing on this part of our work, have written this handy blog to keep you in-the-know.

Having a rare disease is challenging for patients and their loved ones as the diagnosis is often delayed or inaccurate, specialists are scarce and even upon being successfully diagnosed a treatment may not be readily available.

The whole Sciomics team is very grateful to be part of the MCDS Therapy project having the aim of repurposing a safe and proven drug to treat Metaphyseal Chondrodysplasia, Type Schmid (MCDS). Important questions are still to be answered, does the drug work in every child, do the children respond quickly or are there adverse events to be expected?

How can we try to answer these questions? We need biomarker. A biomarker is something we can measure in order to be able to say the drug works or does not. An unrelated example for a biomarker is measuring your temperature if you have a cold. Is it elevated you are likely to be sick or if it is normal you are probably not. Here at Sciomics we measure more than 1000 proteins from a blood sample to identify different proteins as biomarkers potentially being able to judge whether the new therapy is working or has only little to no positive effect.

This is especially important for MCDS as the only biomarker so far is growth rate which can be very slow for natural reasons during a certain period of time or caused by the disease. Children need to be monitored for years until it can be concluded whether the drug has an effect or not. Having a simple biomarker test which can indicate a response to the drug quickly, maybe even after a few weeks, using an easily obtainable blood sample would be of great value to the children and their parents.

We at Sciomics can investigate proteins in tiny blood samples in order to find such biomarkers. For current diagnostic measurements 10ml of blood are taken to look at a handful of parameters some of them already being proteins. Our technology can measure more than 1000 proteins using a thousand times less blood while giving us a hundred times more information.

Looking at very small blood samples has many advantages, the sample is almost pain-free to obtain, every patient can give a tiny amount of blood even sick children and it minimises the children’s risk to suffer from any negative events due to the test. In order to be able to look at 1000 and more proteins, usually your Doctor only looks at 5-10 proteins, we had to invent and develop a whole new method. This was done over more than 15 years of research and out of the 12 people working at Sciomics many are scientists.

We hope that our research within the MCDS Therapy consortium will have a positive impact on many children’s and their family’s lives.