Lysosomal Pathologies, 'Find For Rare' Research Grants Awarded

Chiesi Global Rare Diseases Announces Winning Projects for Fabry Disease, Alpha-Mannosidosis, and Cystinosis

Chiesi Global Rare Diseases, the business unit of the Chiesi Group created to offer innovative therapies and solutions to people living with rare diseases, announced today in Parma the recipients of the 'Find For Rare' research funding. The program, independently evaluated by 10 experts in the sector - a note informs - aims to improve the management and care of patients, promoting and recognizing research in 3 lysosomal diseases: Fabry disease, alpha-mannosidosis and cystinosis. The call was opened on August 8, 2024 and received 82 applications from 23 countries. The selected researchers will receive funding of up to 50 thousand euros.

The selected projects have shown significant potential to address unmet needs of these patients. In particular, for Fabry disease, Mitra Tavakoli, University of Exeter (UK) has won funding for the project 'Fab-Pain: precise phenotyping of neuropathy using a range of novel biomarkers in Fabry disease', which explores a range of novel biomarkers to better understand the mechanisms of pain in Fabry disease. The results could lead to the development of new neuropathic biomarkers, improving understanding of the disease and aiding the creation of diagnostic tools and therapeutic interventions.

For alpha-mannosidosis, Margarita Dinamarca, University of Basel, Basel (Switzerland), has been awarded a grant for the project 'Study of cerebral endothelial dysfunction in alpha-mannosidosis', which is relevant for its dual contribution: clarifying the mechanisms by which alpha-mannosidosis alters endothelial cell function and proposing a targeted therapeutic strategy using nanocarriers. Finally, for cystinosis, Francesco Bellomo, Bambino Gesù Children's Hospital, IRCCS in Rome, with the project 'Study of the molecular mechanisms underlying the effects of the ketogenic diet in cystinosis', will be funded to investigate the potential of the ketogenic diet as a treatment for nephropathic cystinosis, a rare genetic disease that affects the kidneys. In mouse models, significant improvements in symptoms such as Fanconi syndrome, inflammation, and fibrosis have been observed. The goal is to develop an in vitro system to better understand the molecular mechanisms responsible for these benefits and thus promote the identification of new therapeutic options.

"Fabry disease, alpha-mannosidosis and cystinosis are rare and ultra-rare lysosomal storage diseases that cause serious, progressive problems that accompany patients throughout their lives, often complicated by diagnostic delays due to the gradual and complex course - says Enrico Piccinini, Senior Vice President Eu and International, Rare Diseases of the Chiesi Group - Despite therapeutic progress, it is essential to continue supporting research to improve diagnosis, develop new therapies and offer better outcomes to patients. The selection of these 3 projects through 'Find For Rare' demonstrates our concrete commitment to promoting innovation and progress in the treatment of lysosomal diseases".

"The scientific quality of the proposals received this year was truly impressive," said Christina Lampe, Professor and Chair of the Scientific Committee of 'Find For Rare'. "Each selected project stood out for its potential to address the daily challenges experienced by patients and caregivers living with lysosomal storage diseases. By supporting innovative, patient-focused research, this program accelerates the transformation of science into tangible benefits for rare disease communities."