ABSTRACT

WHY A BIOLOGICAL BANK AND A CLINICAL REGISTRY FOR ALTERNATING HEMIPLEGIA

Alternating Hemiplegia (internationally known as AHC) is a very rare disorder characterized by early onset, recurrent episodes of hemiplegia affecting alternatively both sides of the body, occurrence of paroxysmal phenomena such as tonic and dystonic attacks, oculomotor and autonomic disturbances.

It is a highly chronically debilitating suffering with deleterious effects on the quality of life of the affected patients.

Commonly AHC is not well recognized by the treating neurologists and pediatricians and thus, correct diagnosis is often delayed in years. Furthermore, since the cause(s) of AHC is still unknown and its natural course has not been elucidated, no effective treatment(s) or biological markers have  been established.

A.I.S.EA Onlus, the Italian Patient Association for AHC, was created in 1999 with the main goals to support the families, develop the knowledge about the disorder, promote and support the research.

Since the beginning, the association realized that the best way to achieve this last goal was to provide the research groups with an easy, non exclusive access to the clinical data and biological samples of as many AHC cases as possible.

At the same time, the patients of the associations wanted to safeguard their rights to the privacy, to the correct use of their data and samples and to the information about the results of the research projects using them.

Therefore the first Italian Bank for AHC was created in 2004,  thanks to a project sponsored and coordinated by A.I.S.EA Onlus, in collaboration with its Scientific Committee. The Bank was composed of an off-line clinical registry and a biological bank, managed separately.

Last March 2008 a new project has been initiated "I.B.AHC on line", thanks to which the service I.B.AHC - Italian Biobank and Clinical Registry for Alternating Hemiplegia, has been realized and made available.

I.B.AHC is composed of a new on line Clinical Registry (February 2010) and of the associated Biological Bank, both managed, through a common protocol, and coordinated by A.I.S.EA Onlus.