International Niemann–Pick Disease Alliance
Sometimes in such a big organisation as the INPDA, our various member groups can be overshadowed, but we want to show just how important each and every member group is in making the INPDA work. In the INPDA Spotlight this month is Niemann-Pick de España (FNP). In the post below we learn more about their wonderful organisation, including their history, the opportunities they have had, and the challenges they have faced.
Tell us how your organization got started?
Our Foundation began at the end of the year 2000, in the city of Lleida, when three families who had an affected person diagnosed with Niemann-Pick, contacted each other to find an answer to the situation derived from the disease. Fight a rare disease, without knowing anyone in the same circumstances, it was a great challenge. Forthat reason, we got together to lay the foundation for a project that would provide a response to the lives of those affected. And this project, which initially arose for three families, ended up becoming what is today the Niemann-Pick Foundation of Spain, an entity with more than 20 years of experience, which helps more than 20 affected by the disease only in Spain, and offers advice to anyone who contacts us from anywhere in the world. We are very proud of the journey we have traveled, and we continue to accompany those affected and their families on the long road that we still have to make.
What are some of the opportunities that your organization has?
We provide those affected and their families with family orientation and care services, and we are in permanent contact with them to solve everyday problems and offer them the necessary support. We organize seminars and conferences where we explain the most important news about the disease to families, which allows them to know the latest advances in research, trials and treatments that are carried out around the world. In addition, at these conferences, the best doctors, researchers, and specialists can answer the questions and the doubts of the families about treatment or trials.
What are some of the biggest challenges your organization faces?
Our main objective is to promote and fund research into the disease. We created, 20 years ago, the Juan Girón Research Grant. Since 2002, we have signed various collaboration agreements with entities such as the Department of Genetics of the University of Barcelona, the Institute of Clinical Biochemistry and the Hospital Sant Joan de Déu, both in Barcelona. Since 2014, we have been collaborating with our grant with Severo Ochoa Molecular Biology Center in Madrid (CBSO) in a research study that has led by the Dra. Lola Ledesma and the results have been very satisfactory. We are thus facing our greatest challenge to date: a clinical trial for Niemann-Pick type C with Efavirenz, fully funded by our Foundation. This will begin this year at Bellvitge University Hospital, in Barcelona, and will be directed by the neurologist Jordi Gascón.
Are there government resources and support available to those in your community?
The Administration gives punctual support to the people who is affected with rare diseases, but they are insufficient for the needs of those affected. In addition, they vary depending on the territorial area in which they live, and not all have the same aid or the same resources.
Are there gaps you see currently or emerging in the support government gives your community?
Government support for rare diseases is always insufficient. During some years, we have had the support of local and provincial public administrations that, in their possibilities, try to support our cause, but there is still a long way to go. Rare disease research requires continuous and permanent funding, and many resources are required. Some specific therapies or technical support are contemplated in the government programs, but private organizations and the public administration must work together so that the aid is truly effective and can reach all those in need.
What would be your one wish for your organization in the years ahead?
In national level, we hope that the trial that we will begin soon give the expected results. We will work because specialists will know more about this disease and can diagnose and treat it in time, so that families do not have to make such a long time until their diagnosis. In global level, we would like to contribute to obtaining a curative treatment for Niemann-Pick patients.
Is there anything else you would like to share about your organization?
We have had, since 2001, the advice and experience of the most recognized doctors in the world. During this 20 years, some professionals such as Dra. Pineda, Dra. Coll or Dr. Villarubia, as part of our Medical-Scientific Committee, have accompanied us, and they now continue to accompany us, and accompany too the Dr. Gascón and the Dra. Ledesma. We are proud to be founding members of the INPDA, to belong to this entity who includes patient organizations from all over the world and givesresources to all affected, such as, for example, the INPDR. Finally, we want to express our gratitude to the volunteers who are always help us in organizing activities, solidarity events, etc. to achieve our goal: LIFE
A huge thank you to Fundación Niemann-Pick de España (FNP) for taking part in our INPDA Spotlight series and providing an insight into their fantastic organisation. If you want to learn more about Fundación Niemann-Pick de España (FNP) email firstname.lastname@example.org, take a look at their website here, or see what they have been up to lately by checking them out on Facebook. If you are interested in learning more about the member group that represents you, why not check out our ‘About’ page for a list of the organisations that are part of the INPDA? Stay tuned for another INPDA Spotlight next month!