9/23/1977: Degree in Medicine from the University of Milan. Thesis: “The cytology of cerebral spinal fluid”. Presented by: Prof. G. Scarlato.
1/9/1978 : Qualification for medical practicing.
7/1/1981:Residency Certification in Neurology, University of Milan. Thesis:” Polysaccaridic muscular thesaurismosis”. Presented by: Prof. G. Scarlato.
January to December 1984: “Visiting Fellow” at the ” H.H. Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases”. Department of Neurology. Columbia University, New York, N.Y., USA.
June 1989: Qualification for practicing as Head Neurologist
June 2001: Management training Master for Managers of Medical Departments at the School for Health Management I.Re.F., Milan
Head of the “Neuromuscular and Rare Diseases Unit” at the Dept. of Neurological Science, Fondazione IRCCS- Ca’ Granda Ospedale Maggiore of Milan.
Head of “Biobank of Skeletal Muscle, Nerve Tissue, DNA and cell lines” – partner of both EuroBioBank and the “Telethon network of genetic biobanks”.
President of the Italian Association of Myology (AIM) from 2012 ’till 2015.
Member of the AIM scientific commitee as Past President from 2015.
1980-1990: Assistant Neurologist at Dpt Scienze Neurologiche, IRCCS-Ospedale Maggiore of Milan.
1984 to present date: Instructor at the Residency School of Neurology, University of Milan, to give lessons and update courses on neuromuscular diseases.
1987-1988: Consultant at the Istituto Giannina Gaslini of Genoa for electron microscopy application to neuromuscular diseases (Mitochondrial encepalomyopathies and Congenital myopathies).
1988-1997: Head of the Laboratory for Neuromuscular Diagnosis and Research, Dipartimento di Scienze Neurologiche – Centro Dino Ferrari, IRCCS-Ospedale Maggiore of Milan.
1997 to present date: Organizing Manager of the Service for the Diagnosis and Research of Neuromuscular Disorders (now ”Operative Unit for the Diagnosis and Research of Neuromuscular Disorders”) at the Dipartimento di Scienze Neurologiche, Fondazione IRCCS-Ospedale Maggiore of Milan. Main experience in Morphology of mitochondrial encephalomyopathies: histology, histochemistry, immunohistochemistry, electron microscopy.
1996 to 1999: Member of the Directory Committee of the Italian Association of Pathology
2000-2003: Member of the Directory Committee of the Italian Association of Myology.
2005-2006: Telethon Reviewer for projects on neuromuscular diseases.
2000 to present date: Referee for the Ministry of Health in the evaluation of CME events.
05/20/2012 to 05/23/2015: President of the Italian Association of Myology AIM.
From 2015: Member of the AIM scientific commitee as Past President.
Scientific projects as principal investigator or co-investigator
1990 (Ospedale Maggiore): “Correlation between dystrophin deficiency and Calcium membrane receptors in patients with Duchenne muscular dystrophy”
1991 (Telethon): “Ultrastructural localization of calcium binding sites on dystrophic muscle membranes”
1993 (Telethon): “Role of Calcium binding sites in muscle fiber necrosis in Duchenne muscular dystrophy and murine x-linked dystrophy”
1994 (Ospedale Maggiore): “Pathogenesis of oxidative defect in mitochondrial encephalomyopathies due to multiple deletions of mitochondrial DNA”
1995 (Ospedale Maggiore): “Myoblast transplantation in the therapy of mitochondrial disorders”
1995 (Ospedale Maggiore): “Clinical, biochemical and immunohistochemical characterization of sarcoglycanopathies”
1996 (Ospedale Maggiore): “Muscle apoptosis in degenerative disorders”
1999-2003 (Telethon): Curator of the Telethon Bank for DNA and nerve-muscle tissues
2002/2003 (Italian Ministery of Health – Ricerca finalizzata): “ Biorepository of biological material”
2003/2005 (EU V Frame Program): “International Bank of DNA, cell lines and nerve-muscle-cardiac tissues” – “ European Network of Human Biological Material for Rare Diseases – Eurobiobank ”.
2003 (Ospedale Maggiore): Genetic characterization of patients affected with dysferlinopathy
2004 (Ospedale Maggiore): “Analysis of alpha dystroglican glycosilation both in skeletal muscle and CNS of patients affected with congenital muscular dystrophy associated with neuronal migration defects”. First year.
2005 (Ospedale Maggiore): “Analysis of alpha dystroglican glycosilation both in skeletal muscle and CNS of patients affected with congenital muscular dystrophy associated with neuronal migration defects”. Second year.
2006 (Ospedale Maggiore): Morphological carachterization of the FSHD animal model.
2008-2012 (Telethon): “Telethon network of genetic biobanks“
2008-2010 (Telethon): “Italian clinical network for the FSHD”
2008- 2010 Clinical trial “PTC124 Phase 2b”for DMA patients.
2009- 2012 Coordinator of the Italian study: Acid Maltase Deficiency: second biopsies evaluation after Enzyme Replacement Therapy (ERT).
2013 to present date (Telethon): “Telethon network of genetic biobanks”
2014 (Italian Ministery of Health): “Pathogenesis of spinal Muscular Atrophy. Caracterization of Mitochondrial Metabolism”.
2014-2017 (Telethon): “Phenotypic and molecular characterization of FSHD families: a systematic approach towards trial readiness”.
2014-2016 (Telethon): “Building a Nation-wide Italian collaborative network for muscle glycogenoses: registry and natural history”.
Clinical Trial List
June 2008 – June 2009: International multicentric Phase 2b therapeutic trial PTC124-GD-007-DMD.Randomized, double-blind placebo vs control trial on the efficacy of Ataluren in Duchenne Muscular Dystrophy.
July 2009 – April 2010: International multicentric therapeutic trial PTC124-GD-007e-DMD, “Phase 2 b extension study on the use of PTC124 in subjects affected with Duchenne and Becker Muscular Dystrophy due to nonsense mutations”.
January 2011 – December 2013: GSK 114044 phase III clinical trial, double blind randomized vs placebo, to evaluate both efficacy and safety of GSK2402968 promoting exon 51 skipping of DMD gene. “A randomized, double-blind, placebo-controlled clinical study to assess the efficacy and safety of GSK2402968 in ambulant subjects with Duchenne muscular dystrophy”
March 2012 – July 2014: GSK 114349 clinical trial, extension phase of the previous trial with GSK2402968 promoting exon 51 skipping of DMD gene. An open-label extension study of the long-term safety, tolerability and efficacy of GSK2402968 in subjects with Duchenne Muscular Dystrophy
May 2013 to present date: clinical trial DSC/11/2357/43 “A Two-Part Study to Assess the Safety and Tolerability, Parmacokinetics, and Effects on Histology and Different Clinical Parameters of Givinostat in Ambulant Children with Duchenne Muscular Dystrophy”
October 2013 to present date: clinical trial PTC124-GD-020-DMD “A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients with Nonsense Mutation Dystrophinopathy”
December 2014 to present date: Clinical trial PTC124-GD-020e-DMD “A Phase 3 Extension Study of Ataluren (PTC124) in patients with nonsense mutation dystrophinopathy”.
Settember 2017 to present date: clinical trial “ITF-Becker: nuovo approccio terapeutico alla distrofia muscolare di Becker (DBM)”.
-Research Activities in Mitochondrial Diseases-
Clinical characterization and follow-up of patients and families affected with mitochondrial disorders.
Morphological studies of mitochondrial encephalomyopathies: histology, histochemistry, immunohistochemistry and electron microscopy.
Animal models: morphological characterization of animal models of mitochondrial disease. Evaluation of therapeutic trials.
Scientific publications: see attachement.
Awards and Fellowships
1979: University of Milan Fellowshipto (Cerebral energeticmetabolism in eredoataxia).
1981-82: “De Visart” Scientific Award by the University of Milan (Neuromuscular Disorders)
1986: A.R.I.N. (Associazione Italiana Ricerche Neurologiche) Scientific Award (Inherited Diseases of the Nervous System and Skeletal Muscle: Molecular and Genetic Aspect)
# 199 Original papers published in international journals reviewed by Current Contents.
# 18 Chapters on books.
# 199 Summaries of communications at international congresses published in international journals reviewed by Current Contents.
# 172 Summaries of communications at national congresses published in “Atti dei Congressi”.