FTELE is a major Italian non-profit Foundation, raising and distributing funds to advance scientific research towards the cure for muscular dystrophy and other genetic diseases. FTELE has created and manages four research Institutes (intramural research): the FTELE Institute of Genetics and Medicine, devoted to the identification of genes responsible for genetic diseases and their functions; the HSR-Telethon Institute of Gene Therapy whose research is focused on the development of gene therapy protocols for inherited diseases; the Dulbecco FTELE Institute aimed at helping Italian scientists with excellent CVs to return and work successfully in Italy; Tecnothon, which carries out research into creating technical aids for the disabled. FTELE runs also collaborative programs with other international funding agencies: AFM (Association Française contre les Myopathies) and JDRF (Juvenile Diabetes Research Foundation).

Within the field of neuromuscular disease, FTELE supports preclinical projects aimed at developing cutting edge treatments (pharmacological, stem cells, and gene therapy projects), clinical studies aimed at developing clinical, diagnostic and therapeutic tools, outcome measures, databases, databases, and muscle biobanks.

FTELE is a member of the Working Group for Biobank Certification of the National Committee for Biosafety and Biotechnology, and the European Neuromuscular Centre. FTELE participates in the International Trial on Steroids in DMD, coordinating the Italian Clinical Centres involved in the study.

Laboratory of Molecular Medicine, Bambino Gesu’ Children’s Research Hospital (OBG)
The Unit of Molecular Medicine is located at the Bambino Gesù Children’s Research Institute in Rome (Italy), and is a national referring center in Italy for a large number of pediatric diseases, including muscular and neuro-degenerative disorders. The Unit is a European referring center for molecular diagnosis of some rare disorders, and in the standardisation committees to design trials in Spinal Muscular Atrophy.

Università Cattolica Sacro Cuore
UCSC has a long standing experience with neuromuscular disorders. Several members of the Institute of Neurology and of the Institute of Genetics of the UCSC have been coordinating national networks for classification, definition of outcome measures and therapeutical trials in neuromuscular disorders and are part of international clinical networks. The UCSC is currently involved, in collaboration with several centres from Europe and USA, in the definition of outcome measures for spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). UCSC has coordinated a multicentric study using  phenylbutyrrhate  in SMA  and is  also involved in the international trial on the use of steroids in DMD. UCSC is implicated in the USA standards of care committee for Spinal muscular atrophies, the Families of SMA, the Parent Project and the Telethon (IT).

Neuromuscular & Molecular-Genetic Unit of the University of Ferrara (UNIFE)
The Unit of Molecular Medicine has been recently integrated into the Neuromuscular Unit formerly active at the Rizzoli’s Institute in Bologna. The Neuromuscular Unit has a longstanding tradition of experience in the diagnosis and rehabilitation of childhood and adult neuromuscular conditions including in particular SMA, DMD, and CMD. The Molecular Genetics laboratory has been recognised as “excellent centre” in the Regione Emilia Romagna and the strength of the unit is the large critical mass of patients, the molecular diagnostic expertise together with an active program of research and key national and international collaborations. The laboratory has been founded with several national and international grants focused on dystrophinopathies. The UNIFE could provide interface of the TREAT-NMD NoE with the Italian patients association (Duchenne Parent Project Italy and UILDM)

Website

• http://www.telethon.it/sites/researchers/Pagine/Default.aspx

Anna Ambrosini (PhD in Pharmacology and Toxicology): 15 years experience in research laboratories active in the field of neuroscience. Since 2001 is Research Program Manager for the Italian Fondazione Telethon, where, in particular, she is responsible for developing programs in the field of inherited neuromuscular diseases.

She is highly involved at national level in new initiatives developed with a number of Italian neuromuscular Patients’ Associations as part of a NMD Alliance and she is coordinating the activity of the Italian NMD clinical network as FTELE partner of TREAT-NMD.  

She is member of the Steering Committee for the International Trial on Steroids in DMD (FOR-DMD study).

Since April 2009 she is the Chair of the Executive Committee of the European NeuroMuscular Centre (ENMC) Consortium, where she represents Fondazione Telethon and the Italian Muscular Dystrophy Association (UILDM).

 

Enrico Bertini MD (Neurologist): leading the Unit of Molecular Medicine, the section on Morphology, and the Neuromuscular Clinics. Published more than 163 index papers. Is involved in the standardisation committees to design trials in Spinal Muscular Atrophy, and in the diagnosis of Congenital Muscular Dystrophies.

Eugenio Mercuri Md PhD (Associate Professor in Pediatric Neurology): areas of expertise: congenital muscular dystrophy, outcome measures and assessment tools in neuromuscular disorders. Publications: over 130 publications on various topics related to paediatric neurology and neuromuscular disorders.

Sonia Messina, MD and PhD - Neurologist areas of expertise: congenital muscular dystrophy, outcome measures and assessment tools in neuromuscular disorders.  Publications: over 40 publications on various topics related to neuromuscular disorders and paediatric neurology.

Luciano Merlini MD (Neurologist): formerly chief of the Neuromuscular Unit of the IOR, Bologna, now works as neuromuscular consultant in the Medical Genetic Unit of the University of Ferrara. Scientific Manager of the Myo-cluster (EU FP5 Contract N° QLG1-CT-1999-00870), a cluster of European myology research groups. PI of 2 SMA randomized clinical trials: Italian SMART with gabapentin, and EuroSMART with acetyl-L-carnitine. Planning a pilot trial in Ullrich congenital muscular dystrophy with CsA. Executive board officer of the World Muscle Society (WMS) and the Italian Association of Myology (AIM). Associate Editor of Neuromuscular Disorders, the official journal of WMS. Chairman in several ENMC workshop. More than 130 publications on the topic of myology in the last 10 years. Particular interests in NMD: muscle strength evaluation, clinical trial design, rehabilitation.