By Rob Pleticha is the Online Community Manager of, a EURORDIS project

This is a personal opinion 

The International Rare Diseases Research Consortium plan to have 200 new rare diseases therapies by year 2020. In Europe a disease or disorder is defined as rare when it affects fewer than 1 in 2000 citizens.(1) Researchers studying rare diseases have difficulty gathering a sufficient number of people to join clinical trials in order to reach statistically significant results that can impact treatment. Clinical trial transparency and sharing of clinical trial data is fundamental in advancing rare disease research.

Existing rare disease clinical trial data needs to be re-examined with new statistical tools so treatment protocols can be established, post marketing authorization safety is scrutinized, and follow up research well informed. Data can be combined from company and academic sources along with patient group registries in a meta-analysis to create an understanding of the disease that leads to new treatments, better match between a person’s specific mutation and treatment, and improvement in the lives of people living with a rare disease.

The European Medicines Agency is helping lead the way for the publication of trial results by moving towards a system in 2014 where trials are proactively released and de-identified patient data is made available upon request.(2) The Agency’s bravery, stand for transparency, and concern for people living with medical conditions is admirable in the face of lawsuits by pharma companies.

Challenges to overcome, of course, include maintaining patient privacy and company confidentiality. Dialogue between industry and regulators must include the patient perspective to ensure the sacrifices that people make to join clinical trials are honoured.

No one has really been able to explain to me why nearly half of all trial data is not published (3), at least not in a manner which passes a simple ethics test. Companies have a moral imperative to publish all trials, including unsuccessful ones, so that people living with a rare disease can benefit from the entire body of research on the disease. When people enter into medical research they do so for the public good and for the good of other patients to come after them. People living with rare diseases have been neglected by the health care system for long enough. The time has come for a clinical trial data transparency policy that reflects the sacrifices that people with a rare disease have made to participate in research.

1 What is a rare disease – EURORDIS

2 Sharing Clinical Research Data: Workshop Summary


Read more:

EURORDIS – The Voice of Rare Disease Patients in Europe

IRDiRC – International Rare Diseases Research Consortium