Cmed Marks Rare Disease Day 2019

Written by Stephanie Langouet and Ian Macholl

There are more than 6,000 rare diseases, some affect as few as a handful of patients. 80% of these diseases have genetic origins while others are the result of infections/allergies/environmental cases or are degenerative and proliferative. With a staggering 50% of rare diseases affecting children, one cannot simply sit aside and watch.

The lack of scientific knowledge of rare diseases often leads to a delayed diagnosis (some never reach conclusion) and delayed treatment (if any is available). Very few treatments can be used and they can add to the pain and suffering of the patients. Research into new treatments is progressing (most notably with an increase in gene therapy research) and Cmed is an active player in the clinical services area for rare diseases.

Running a rare disease study includes many challenges. By definition it is more difficult to access a patient population and there are difficulties in recruitment, collaboration with (rare) medical experts, navigation through complex regulatory challenges, understanding of natural history studies, as well as designing clinical studies which can be complex (they are no standards and the selection of primary endpoints and the estimate of study duration are key) but must be patient-friendly.

Cmed is a full service CRO that specialises in rare diseases and oncology. Our team has conducted 65 rare disease studies to date (in non-oncology as well as oncology rare diseases). We are the partner of choice for the management of clinical trials in oncology gene therapies.

The range of rare diseases involved in Cmed’s past clinical trials includes Bullous Pemphigoid, CDG syndrome, PBC, PNH, HAE, Fabry Disease, Cushing’s Disease, Sickle Cell, Cystic Fibrosis, NOMID, Lipoprotein Lipase Deficiency and Alpha Mannosidosis.

We never underestimate the importance of these clinical trials as they offer some hope for patients and the families of those affected. So we are proudly supporting Rare Disease Day 2019 and its main objective to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

Rare Disease Day 2019 rarediseaseday.org