PREFER and neuromuscular disorders

2018-06-27

Cecilia Jimenez-Moreno, Research Physiotherapist and PhD leads the upcoming PREFER patient preference case study on neuromuscular disorders (NMD). She shares the task with Dr. Grainne Gorman. Both are involved in NMD research at Newcastle University

Cecilia Jimenez-Moreno
Cecilia Jimenez-Moreno, Newcastle University

NMD represent rare, serious and debilitating conditions with a high unmet need for treatments. In the PREFER study, two NMD diseases will be included. The first is myotonic dystrophy type 1. The second mitochondrial disorders. Both are multi-systemic and heterogeneous diseases and often affect more than one member in a family.

According ot Cecilia Jimenez-Moreno, there aren't many patient preference studies in this field. However, she believes they have a potential impact for NMD patients by encouraging industry,  or supporting evidence for regulatory authorities. 

Patients with NMD disorders often also have cognitive challenges. Cecilia Jimenez-Moreno says that this study will allow an insight into the field of patient preference studies in rare diseases. At the same time, it will help us learn about how to do this kind of studies for diseases that may present learning difficulties.

About PREFER patient preference case studies

Our patient and clinical research partners from the University of Newcastle upon Tyne, University of Birmingham, Istituto Tumori Bari. PREFER patient partners like the European Cancer Patients Coalition (ECPC), and Muscular Dystrophy UK (MDUK), play important roles by providing expertise on cancer and neuromuscular disorders. Patient partners with Rheumatoid Arthritis are also involved.

By Josepine Fernow