In addition to the research activity, the Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases offers clinical care to patients with mitochondrial disorders and their families. Thanks to expertise in both pediatric and adult pathology, the Institute is among the few in Italy able to take care of patients with mitochondrial disease from the time of diagnosis throughout the evolution of the disease, providing patients with the necessary continuity in the delicate phase of transition from childhood to adulthood.

Since 2001, pediatric patients with mitochondrial diseases are offered an outpatient service.

Adult patients can benefit from the same service since 2010. This facility consists of an outpatient service for the diagnosis and treatment of mitochondrial disease for both adults and children with the possibility of hospitalization in dedicated beds. The adult clinic performs about 402 examinations a year, and it is held once a week.

For pediatric patients a direct access to outpatient service is available (Day Service, once a week) with referring physicians (see "staff").

The outpatient service allows the programming for neuroimaging examinations, neurophysiology and blood tests, skin and muscle biopsy. Close collaboration with the neuroftalmologist colleagues of Auxologico Institute

Within the outpatient service, clinicians can monitor and follow up patients using international mitochondrial assessment scales. It also possible to have cardiological evaluation, orthopedic and pulmonary clinic with specialist consultants pertaining to structures affiliated with the Institute.

Furthermore, genetic counseling is provided to those families in which a patient with mitochondrial disease has been identified. Since 2011 our Unit joined the Regional Register of Rare Diseases and the Italian Register for Mitochondrial Diseases funded by Telethon and Mitocon ONLUS (association of patients). The latter register involves - throughout Italy - 12 Centers specialised in mitochondrial diseases for both adults and childred and it is coordinated, from the center of Pisa, by Prof. Siciliano. The Register is the result of a common need: physicians, researchers and patients themselves needed to carry out a census of patients suffering from mitochondrial diseases in order to group them into similar categories according to their diagnosis and / or their clinical conditions, so that they could be monitored over time, to witness the natural history of the disease, and to be ready to perform clinical trials and studies to test new therapeutic approaches.

Since 2016 the Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases is part of Genomit network , the European Network for mitochondrial diseases coordinated by Germany whose participants are Italy and Germany together with France, USA and Austria.

In addition to the research activity, aimed to identifying new disease genes and new therapeutic strategies, the consortium goal is to unify and integrate the Italian registry for mitochondrial diseases with other national registers of the Member States.

In 2016 the Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases took part in the trial observation on Optical atrophy Leber SNT-CRS002 whose aim was to classify and categorize patients with a mitochondrial disease.

In 2017 the Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases was selected for a new trial (whose sponsors is Stealth SPIMM 300) that involves the use of a new drug in patients with PMM (Primary Mitochondrial Myopathy).


Italian Network for mitochondrial diseases study