We will be releasing more information about each of our 11 partners and the people involved over the coming weeks. Watch this space!

1. University of Newcastle, and Newcastle-upon-Tyne Hospitals NHS Foundation Trust, UK

The University of Newcastle is an academic institution based in the UK. It was founded in 1834 and has since become a world leader in all aspects of academic research. The University has particularly stood out in recent years in its work researching rare diseases, and it has a large variety of high quality translational research facilities.

The University is part of the Newcastle Academic Health Partnership, together with Newcastle-upon-Tyne Hospitals NHS Foundation Trust, who are involved in the clinical side of MCDS-Therapy.

What is the University of Newcastle’s role in MCDS-Therapy?

The University of Newcastle is the overall coordinator of the MCDS-Therapy project. The team is responsible for the day-to-day running of the project, including planning, monitoring, reporting, and managing relations between all partners and funders.

Alongside project coordination, the University is playing a large role in other aspects of the trial, including:

  • Leading and coordinating all phases of the clinical trial.
  • Assessing the health economics of MCDS. This means estimating the current cost of MCDS and the impact of the treatment on this. If carbamazepine successfully treats patients, it is more likely to be paid for by the health service if is cost effective.
  • Developing commercialisation strategies. Discoveries made by the various research partners could be sold to other organisations and groups, helping to recuperate some of the costs of the trial.
  • Making sure the project is run ethically, with patients and families in mind.

This work is carried out across the Institute of Genetic Medicine (IGM), the Institute of Health and Society (IHS), and the University’s Clinical Trials Unit (CTU). Together, these institutes have a critical mass of experienced scientists, clinicians, pharmacists and statisticians.

What is Newcastle-upon-Tyne Hospital’s role in MCDS-Therapy?

Newcastle-upon-Tyne Hospital’s will undertake all clinical-related activities for MCDS. This includes:

  • Recruiting participants into the trial and acting as a trial site. This involves observing patients and performing tests to measure the effect of the treatment.
  • Manufacturing the drug and producing a multi-lingual labelling and patient information sheet.
  • DNA analysis of the collagen X gene in all patients enrolled in the trial, including those recruited to overseas trial sites.

2. Assistance Publique – Hôpitaux de Paris, France

The Assistance Publique-Hôpitaux de Paris is a universally recognized university hospital centre. One of the 39 hospitals in its group is the Necker-Enfants Malades Hospital – the paediatric hospital of reference in France and home to the National Reference Centre for Skeletal Dysplasia. The Necker Hospital has a European impact, with more than 20% of hospitalised patients coming from other provinces in France or from abroad.

What is the Assistance Publique – Hôpitaux de Paris’s role in MCDS-Therapy?

The National Reference Centre for Skeletal Dysplasia at the Necker Hospital follows more than 3,000 patients affected by rare bone diseases. The Hospital’s role is to recruit patients into the MCDS-Therapy trial and act as a trial site, observing patients before and after time on the treatment to measure its effect. They will share the observations and samples they collect with the trial coordinator and other relevant partners.

3. Universitair Ziekenhuis Antwerpen – Antwerp, Belgium

Antwerp University Hospital is an academic hospital with close affiliations to the University of Antwerp. It is renowned for offering friendly patient care, delivering high-quality academic education, and conducting ground-breaking scientific research. The hospital is a European Reference Centre for rare bone disorders and is part of the European Reference Network on Bone Rare Disorders (ERN-BOND).

What is the Universitair Ziekenhuis Antwerpen’s role in MCDS-Therapy?

The Hospital’s Department of Medical Genetics (DMG) has a multidisciplinary outpatient clinic dedicated to patients with rare bone disorders, including MCDS. The organisation is responsible for recruiting patients into the trial and acting as a trial site for the patients located closest to it. They will share the observations and samples they collect with the trial coordinator – the University of Newcastle – and other relevant partners.

4. Murdoch Children’s Research Institute – Melbourne, Australia

The Murdoch Children’s Research Institute is the largest children’s health institute in the southern hemisphere. The Institute is co-located within the Royal Children’s Hospital, Melbourne, and has close links with the University of Melbourne. It employs 2,000 researchers who study all aspects of infant, childhood and adolescent diseases.

What is the Murdoch Children’s Research Institute’s role in MCDS-Therapy?

The MCRI is responsible for recruiting patients into the trial and acts as a clinical trial site for this area of the world, recording the results of tests in patients before and after treatment to better understand its effect, and reporting back to the other partners. The Institute already manages a large cohort of patients with MCDS.

5. Guy’s and St Thomas’ NHS Foundation Trust – London, UK

The Guy’s and St Thomas’ NHS Foundation Trust was formed in 1993 from a merger of two London-based hospitals. The resulting service reconfiguration has enabled it to become a specialist in many clinical and research areas. The Trust’s NIHR Biomedical Research Centre leads the way in translational research and innovation, and it is also part of the 100,000 Genomes Project, which aims to decode the DNA sequences of 100,000 people who have a rare condition or live with cancer.

What is the Guy’s and St Thomas’ NHS Foundation Trust’s role in MCDS-Therapy?

The Trust’s Evelina London Children’s Hospital, which opened in 2005, is a trial site for MCDS Therapy. This means it is responsible for identifying potential participants, recruiting patients into the trial, carrying out study visits, safely monitoring patients, and collecting and reporting data.

6. Istituto Ortopedico Rizzoli – Bologna, Italy

The Rizzoli Orthopaedic Institute is the main Italian institute for orthopaedics and traumatology. Granted the status of ‘scientific research hospital’ in 1981 for high quality healthcare and research, it has since become part of the Emilia-Romagna Regional Health Technology Network. This Network appointed the Institute’s Department of Medical Genetics and Rare Orthopaedic Diseases the centre of coordination for the Regional Hub and Spoke Network of Rare Skeletal Diseases. The Rizzoli Orthopaedic Institute is also the coordinator of the European Reference Network on Bone Rare Disorders (ERN-BOND).

What is the Istituto Ortopedico Rizzoli’s role in MCDS-Therapy?

As a trial site for the MCDS-Therapy project, the Rizzoli Orthopaedic Institute is responsible for identifying patients with MCDS for inclusion into the study and monitoring the effect of the treatment. Patients are referred from 12 centres from the Hub & Spoke Network for Rare Bone Diseases.

7. Universita di Bologna – Bologna, Italy

The University of Bologna is one of the leading academic institutions in Italy and Europe. As well as a long history in medical research, the University has access to health economics expertise. Their health economic research gives an understanding the cost of diseases to patients, health services and wider society, as well as the cost-effectiveness of treatments.

What is the Universita di Bologna’s role in MCDS-Therapy?

The University of Bologna will be assisting the health economic aspect of the MCDS-Therapy project. More specifically, they will be working on the estimation of budget impact and cost-effectiveness, while producing executable models.

8. Universitäetsklinikum Freiburg – Freiburg, Germany

The University Medical Centre Freiburg is the teaching hospital at the University of Freiburg and home its Faculty of Medicine. Its Centre for Paediatric and Adolescent Medicine provides the highest-level of primary care in all paediatric sub-specialities in south-western Germany and nearby regions of France and Switzerland. A Paediatric Genetics Unit was established in 2006 under the Freiburg Centre for Rare Diseases; it has a special focus on genetic skeletal diseases and diagnoses around 600 a year.

What is the Universitäetsklinikum Freiburg’s role in MCDS-Therapy?

The Centre for Paediatric and Adolescent Medicine is responsible for recruiting patients with MCDS into the trial and observing the effect of the treatment. They are also involved in developing a model of the disease derived from human stem cells which should form an excellent way to test potential MCDS biomarkers.

9. Sciomics – Heidelberg, Germany

Sciomics is a German company whose main scientific focus is in the area of precision medicine. The company was founded in 2013 as a spin-off from the German Cancer Research Centre and has developed the scioDiscover platform which is especially well suited for protein biomarker discovery, drug target identification, and disease mechanism profiling. Using the scioDiscover platform technology, two biomarker signature patents for bladder cancer recurrence and for stratifying pancreatic cancer from chronic pancreatitis patients have been identified and granted so far, with more in the development pipeline.

What is Sciomic’s role in MCDS-Therapy?

Sciomics is responsible for the biomarker discovery part of the MCDS-Therapy Project, which will ultimately help to track the impact of treatment on the disease. Their work involves selecting the highest-quality samples to analyse and identifying and verifying new MCDS biomarkers. Simple tests will be developed to detect and measure these markers in patient samples later on.

10. Findacure – Cambridge, UK

Findacure is a UK-registered charity that builds the rare disease community to drive research and develop treatments. Since forming in 2012, Findacure has delivered patient empowerment projects to more than 500 patient advocates, giving them the skills, knowledge, and confidence they need to run effective patient organisations and partner with researchers. The team has significant experience communicating complex information to both rare disease patients and the researcher community.

What is Findacure’s role in MCDS-Therapy?

Findacure’s focus is on external communications and patient engagement throughout the MCDS-Therapy project. As well as building a community for patients and families, Findacure is responsible for conducting focus groups and surveys to better understand the patient experience of the condition, and uses this insight to represent patients at consortium meetings. The organisation manages the MCDS-Therapy website, social media accounts and newsletters, and will present the research at key conferences.

11. Finovatis – Lyon, France

Finovatis is a French independent consulting company based in Lyon. The company specialises in the funding, management and promotion of national and international research projects and networks. They provide complementary expertise (managerial, financial, fiscal, technical, and scientific) to assist academics, research institutes, private companies, associations, and industrial partners in running their projects.

What is Finovatis’s role in MCDS-Therapy?

Finovatis will assist the coordinators at University of Newcastle in the dissemination and administrative activities of the project, such as their technical and financial aspects. This includes providing organisational assistance, helping the coordinator to ensure that the consortium complies with rules on decision-making, providing support in project meetings, disseminating through preparation of leaflets and press releases, and providing support in monitoring issues relating to Intellectual Property that arise. Finovatis will also be in charge of tracking and monitoring the project’s impact over the course of the project.