Dr. Marcelo Andrade: "Our intention is to include patients, families and health professionals from around the world in the registry of COVID-19 and rare diseases"
A registry to investigate how COVID-19 affects people with rare diseases
Through collaboration between Sant Joan de Déu and Garrahan Hospital, an ambitious project that connects COVID-19 and rare diseases has been developed. The initiative has supported the creation of a patient registry of people affected by a rare disease and who have tested positive for COVID-19, which aims to analyse how this new infectious disease has disturbed their quality of life. As Marcelo says, “COVID-19 is a current social reality that affects us all. A considerable part of the world's population (around 6%) is frequently neglected because they suffer from diseases that are unknown and rare. However, as paediatricians and general practitioners, we know that, as a whole, rare diseases are a recurring medical problem in routine medical care".
"We believe that carrying out an international registry will allow us to know how this virus affects patients with these diseases. We will collect information about a lot of people with specific diseases and learn more about how SARS-CoV-2 affects them"
"In addition, we think that every person, relative and/or professional working with patients with a rare disease is worried about how this situation can affect them. We still do not have a medical answer for this."
There are currently no studies on how COVID-19 can affect people with previous illnesses, and even less if they are rare. “The main objectives of the study are to determine to what extent this pandemic affects the population suffering from rare diseases. On the one hand, how does the virus itself affect them, and on the other, what impact this situation has had on the routine treatment of different diseases", says Dr. Andrade.
The registry arose from an alliance between the Sant Joan de Déu Hospital in Barcelona and the Garrahan Hospital in Buenos Aires. “Our intention is to bring together patients, families and health professionals from around the world. Although we are currently working more intensively with patients, families, organizations and professionals in Latin America and Europe, we want to reach as many countries or regions as possible with this registry". In other words, the project is open to the participation of people from all over the world. Together with Dr. Marcelo Andrade, Dr. Guillermo Chantada (paediatric oncologist at the Sant Joan de Déu Hospital), Begonya Nafria (Share4Rare coordinator) and Dr. Pablo Barvosa from the Garrahan Hospital are also in the coordination team of the project.
Several patients’ organizations, such as ALAPA or FADEPOF, also collaborate in the project. These play a fundamental role, since they have the ability to encourage their associates or related families to participate in the registry. Dr. Andrade emphasizes the possibilities that this international collaborative study opens up, since, in his words, "it gives us the possibility of having a big casuistry that is difficult or impossible to obtain in a sole country".
Thanks to the registry, accurate information will be obtained on how SARS-CoV-2 affects patients who suffer from different rare diseases and it will be possible to influence the quality of life of people who are in this situation. It will probably determine which population is most at risk for complications and which is not. In addition, the project will help raise awareness about how confinement affects the evolution of rare diseases and how the negative impact on patients could be minimized.
One of the factors that adds great value to this initiative is that it is a global collaborative project. “It connects us all, and that is very important. In addition to considering the specific situation of the patients, it allows us to consider a more global and cross-sectional view of a common problem that affects this type of patients”. The survey is addressed at patients of all ages who have a rare disease and have suffered from COVID-19, and their families. Furthermore, there is an additional registry available to be completed by health professionals who have taken care of these patients.
In the context of this project, the International Congress on the Effects of COVID-19 on People with Rare Diseases is being organized, in which the registry will be presented. This congress is addressed to the scientific community, to patients, relatives and patient associations, and encompasses different topics related to the current pandemic: study of new vaccines, psychosocial impact, effects of the disease, access to treatments, healthcare models, etc. The event will be held virtually on November 9th, 11th and 13th 2020. If you wish to attend you must fill in this registration form.