February 18, 2011 in Milan, Italy
At Foundation IRCCS, Neurology Institute “C Besta”. Sponsored by “C Besta” and Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro (AISNAF).
Families, researchers, doctors gather in Italy to share knowledge about NBIA
- By Dr. Natale Scalise, AISNAF president
More than 120 doctors, researchers and others, including biomedical professionals and rehabilitation therapists gathered in Milan, Italy, for a daylong seminar in February to discuss the latest research activities and leading edge therapies for NBIA.
The event featured 20 speakers and was organized by Dr. Barbara Garavaglia and Dr. Nardo Nardocci of the Foundation IRCCS, Neurology Institute “C Besta.” It was jointly sponsored by “C Besta” and AISNAF, a lay advocacy NBIA organization in Italy that offers family support, NBIA education and support for research.
It was greatly satisfying for me to welcome the unprecedented joint gathering of the scientific community and the family association.
I discussed AISNAF’s activities and accomplishments, including our collaboration with NBIA Disorders Association and our participation in research funding.
Garavaglia discussed her work with diagnostic NBIA gene screening performed at the Besta Institute. Professor Sonia Levi discussed how the mechanism causing iron to accumulate in the brain is still unknown and her lab’s use of NBIA patient’s fibroblasts (connective tissue cells) to find answers. Dr. Valeria Tiranti reported on her team’s observations of changes in the mitochondrial network of fibroblasts using a leading edge microscopy technique. Others discussed the role of ferroportin, a protein that transports iron from cells; drug treatments; and rehabilitation therapies, including deep brain stimulation and the baclofen pump.
Results of a controlled study in Italy using deferiprone on PKAN patients also were discussed, with Nardocci taking the lead and including Dr. Luisa Chiapparini and Dr. Enrico Bertini from Pediatric Hospital Bambino Gesu in Rome and Professor Alberto Piga, a hematologist in Turin.
MRIs revealed significant evidence of iron accumulation reduction in the globus pallidus in nine out of 10 patients. However, objective improvements in symptoms were observed in only one patient. This was thought to probably be due to the brief length of the six-month study.
Dr. Francesca Sofia from Telethon praised AISNAF for its work and support of research efforts. She reaffirmed her dedication and Telethon’s commitment to AISNAF’s initiatives. Telethon is a large non-profit organization that backs scientific research in Italy for neglected disorders. It also assists families who wish to start an organization for specific genetic disorders.
The seminar concluded with a discussion between doctors and patients about their concerns. This reinforced the necessity for a strong, constructive and complementary relationship between AISNAF and the scientific community along with the ongoing cooperation of our American and German sister organizations.