Partners

Partners

The MCDS-Therapy consortium is comprised of 11 international members. Learn the role each partner plays in the project below!

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 many high-quality translational research facilities, and has particularly stood out with rare disease research in recent years.

The University is part of the Newcastle Academic Health Partnership, which includes Newcastle-upon-Tyne Hospitals NHS Foundation Trust. Newcastle-upon-Tyne Hospitals NHS Foundation Trust is 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 there 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 involves estimating the current cost of MCDS and the impact of the treatment on it. If carbamazepine successfully treats patients, it is more likely to be paid for by the health service if proven 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.
  • Ensuring that the project is run ethically with patients and families in mind.

The University’s 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 NHS Foundation Trust is home to MCDS-Therapy’s Principal investigator, Marta Bertoli. She has been overseeing the early stages of the clinical trial in the UK.

Our London and Newcastle sites have identified a suitable dose of carbamazepine (CBZ) for MCDS patients in our first patient cohort that’s currently under treatment.

2. Assistance Publique – Hôpitaux de Paris, France

The Assistance Publique-Hôpitaux de Paris is a universally recognised university hospital centre that’s comprised of 39 hospitals. One of the hospitals in the 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 vast European footprint. More than 20% of hospitalised patients come 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 is home to internationally renowned rare bone disease experts who have helped with the MCDS-Therapy trial design and delivery. Their expertise has been vital to the project since its inception.

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?

Antwerp University Hospital is home to internationally renowned rare bone disease experts who have helped with the MCDS-Therapy trial design and delivery. The Hospital’s Department of Medical Genetics (DMG) has a multidisciplinary outpatient clinic that’s dedicated to patients with rare bone disorders, including MCDS. The team’s expertise has been vital to the project since its inception.

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

The Murdoch Children’s Research Institute (MCRI) 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. The team there records the results of tests in patients before and after treatment to better understand the drug’s effect, and reports those findings back to the other consortium members. 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 the Trust 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. It was also part of the 100,000 Genomes Project, which aimed to decode the DNA sequences of 100,000 people with a rare condition or cancer.

The 100,000 Genomes Project began in 2013 and gave a new diagnosis to 1 in 4 rare disease patients after sequencing over 2,000 families. This was the first time that Whole Genome Sequencing (WGS) was used for rare diseases!

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. 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, the Rizzoli Orthopaedic Institute has 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?

The Rizzoli Orthopaedic Institute is a trial site for the MCDS-Therapy project. The team there is responsible for identifying and enrolling patients with MCDS into the study. Patients are referred from 12 centres from the Hub and Spoke Network for Rare Bone Diseases. The Rizzoli Orthopaedic Institute will monitor the effect of the treatment and report its findings back to other members of the MCDS-Therapy consortium.

7. Universita di Bologna – Bologna, Italy

The University of Bologna is one of the leading academic institutions in Italy and Europe. It has a long and rich history in medical research, as well as access to health economics expertise. The University’s health economic research gives an understanding of 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 with the health economic aspect of the MCDS-Therapy project. The team there will be working on the estimation of budget impact and the cost-effectiveness of carbamazepine, while also producing viable models.

8. Universitäetsklinikum Freiburg – Freiburg, Germany

The University Medical Centre Freiburg is the teaching hospital at the University of Freiburg and home to 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 with a special focus on genetic skeletal diseases. The Unit diagnoses around 600 genetic skeletal diseases a year.

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

The University Medical Centre Freiburg is home to internationally renowned rare bone disease experts who have helped with the MCDS-Therapy trial design and delivery. The team at The University Medical Centre Freiburg are working to develop a new model system of human-stem-cell-derived MCDS cells, which can be used to help test potential MCDS biomarkers. The team’s expertise has been vital to the project since its inception.

9. Sciomics – Heidelberg, Germany

Sciomics GmbH is a German company that’s focused on precision medicine. The company was founded in 2013 as a spin-off from the German Cancer Research Centre. Sciomics has developed the scioDiscover platform, which is well-suited for protein biomarker discovery, drug target identification and disease mechanism profiling. Using the scioDiscover platform technology, two biomarker signature patents have been found for bladder cancer recurrence and stratifying pancreatic cancer from chronic pancreatitis thus far.

What is Sciomic’s role in MCDS-Therapy?

Sciomics is responsible for the biomarker discovery stage of the MCDS-Therapy Project. This stage will help track the impact of carbamazepine on the disease. The team there will select the highest-quality samples to analyse, identify and verify new MCDS biomarkers. Simple tests will be developed to detect and measure these markers in patient samples.

10. Beacon: for Rare Diseases – Cambridge, UK

Beacon: for Rare Diseases is a UK-registered charity that is building a united rare disease community with patient groups at its heart. Since forming in 2012, Beacon: for Rare Diseases 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 Beacon’s role in MCDS-Therapy?

Beacon is responsible for MCDS-Therapy’s external communications and patient engagement. The organisation manages the MCDS-Therapy website, social media accounts and newsletters. They are building a community for MCDS patients, families and researchers that’s supportive, engaging and informative. They are involved in conducting focus groups and surveys to better understand the patient experience and needs of the community. Beacon presents its findings at key conferences and represents that patient voice at consortium meetings.

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 the University of Newcastle in the dissemination and administrative activities of the project, such as the 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
  • Providing support in monitoring issues relating to Intellectual Property that arise

Finovatis is also in charge of tracking and monitoring the project’s impact over the course of the project.