Fondazione Benzi is happy to support the Rare Disease Day also this year with the initiative “Share your voice: what it means to be rare”. There are 300 million people living with a rare disease worldwide. Their needs do not have to and cannot be ignored! We would like to spotlight these needs in order to make sure that they are better identified and met. To this end, we collected contributions from patients with rare diseases related to their personal experience, including the challenges they have to face. We are extremely glad that they accepted to share their voice, allowing us and other stakeholders to consider the possible actions to be implemented as starting point to address their needs.
COLLABORATIVE RESEARCH Last updates on our collaborative research projects
ARISE AT THE ANNUAL SCIENTIFIC CONFERENCE ON SICKLE CELL AND THALASSAEMIA 2022
The Annual Scientific Conference on Sickle Cell and Thalassemia (ASCAT) 2022 conference, in collaboration with European Hematology Association & British Society for Haematology, successfully completed a 3-day conference in January 2022. Dr. Wale Atoyebi, Consultant Haematologist and Honorary Senior Clinical Lecture at Oxford University Cancer and Haematology Centre Churchill Hospital presented a piece of work done in the framework of the ARISE project within Work Package 3 to improve the quality of laboratory systems for Sickle Cell Disease laboratory screening in sub-Saharan Africa. A gap analysis approach was adopted at the project start, and two years after, to identify needs and gaps in laboratories performance.Discover more - Visit the ARISE website
EXPLORE THE RARE DISEASES CLINICAL TRIALS TOOLBOX
The Rare Diseases Clinical Trials Toolbox has been developed as a practical aid for developers of clinical trials on medicinal products for human use regardless of therapeutic area. The toolbox aims to collect the accumulated knowledge, experience, and resources generated by previous projects and/or research infrastructures and other organisations into a practical and guided toolbox to help clinical trialists and R&D managers understand the regulations and requirements for conducting trials, with special focus on investigator-initiated trials for rare diseases and applicable in Europe. It outlines major considerations for all phases of a clinical trial and it is divided into five sections (research questions, plan, execute, analyse, and end of trial).
ACROSS THE WORLD Updates and latest news across the world
“TESTO UNICO SULLE MALATTIE RARE” BECAME LAW IN ITALY
Law no. 175 of 10 November 2021, including the provisions for the treatment of rare diseases and for the support of the research and development of orphan medicinal products, has been approved. It officially entered into force in December 2021. This is the first law addressing solely rare diseases, that approximately affect 2 million people in Italy. An ad hoc law is crucial for a real organisation at national level. In particular, the law aims to ensure uniformity in order to take in charge diagnostic, therapeutic and care provisions for rare diseases, and to regulate in a systematic and organic way the actions dedicated to supporting research, both on rare diseases and orphan medicines.
A report presenting the results from the first five years of the EMA PRIority Medicines (PRIME) scheme, has just been published. EMA launched the PRIME scheme in March 2016 to support the development of medicines that are expected to benefit patients with no current treatment options for their disease or offer a major therapeutic advantage over existing treatments. PRIME scheme has had a positive impact on the authorisation of new medicines that address patients’ unmet medical needs. The time to marketing authorisation was reduced for medicines that benefitted from PRIME support, giving patients earlier access to transformative treatments. From March 2016 to June 2021, a total of 18 medicines that had PRIME support were approved in the European Union.
PUBLICATIONS Our recent publications and other editorial activities
ARTICLE ON EU PAS REGISTER POST-AUTHORIZATION STUDIES: NOW PUBLISHED
The article “Overview of the EU PAS register post-authorization studies performed in Europe from September 2010 to December 2018” has been published in the Pharmacoepidemiology & Drug Safety journal. The study provides a detailed description of all studies registered in the EU PAS Register from its inception till the end of 2018, focusing on various aspects of the study and multiple database studies specifically. Data related to transparency, regulatory obligations, scope, study type, study design, type of data collection and target population was collected, by using publicly available information in the EU PAS register and a standardised data collection form.
The article “Health technology assessment of paediatric medicines: European landscape, challenges and opportunities inside the conect4children project” has been published in the British Journal of Clinical Pharmacology. Fedele Bonifazi, president of Fondazione Gianni Benzi, co-authored this work as member of the Health Technology Assessment (HTA) expert group, set up within the conect4children (c4c) project. The article aims at describing the most relevant elements of the drug development process in the paediatric field by focusing on the HTA.
CALLS FOR FUNDING Funding opportunities within relevant research programmes
THE EJPRD ERN RESEARCH TRAINING WORKSHOPS FUNDING OPPORTUNITY NOW OPEN
The ERN Research Training Workshops funding opportunity is open for applications until April 25th. The goal of the workshops is to train researchers and clinicians affiliated to ERN in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research topics, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value. The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25,000.
Law no. 175 of 10 November 2021, including the provisions for the treatment of 
