The Italian Mito-Patients Register: state of the

art and next steps

Michelangelo Mancuso

Pisa

Italian Network of Mitochondrial Diseases • Corrado Angelini• Luca Bello• Enrico Bertini• Claudio Bruno• Elena Caldarazzo Ienco• Valerio Carell• Rosalba Carrozzo• Michela Catteruccia• Giacomo Pietro Comi• Daria Diodato• Maria Alice Donati• Maria Teresa Dotti• Antonio Federico• Massimiliano Filosto• Daniele Ghezzi• Costanza Lamperti• Chiara La Morgia• Michelangelo Mancuso• Carlo Minetti

• MITOCON• Maurizio Moggio• Tiziana Mongini• Isabella Moroni• Olimpia Musumeci• Daniele Orsucci• Elena Pegoraro• Dario Ronchi • Filippo Maria Santorelli• Mauro Scarpelli• Monica Sciacco• Serenella Servidei• Gabriele Siciliano• Paola Tonin• Antonio Toscano• Graziella Uziel• Maria Lucia Valentino• Liliana Vercelli• Massimo Zeviani

The network has reached the following goals: 1.Establishment of an Italian network of clinical centers with expertise on MM and cooperation with MITOCON2.Creation of a validated web based database, harmonized with other European Databases and Networks3.Characterization of a big cohort of MM cases4.Dissemination of our results

We have collected to date 1436 patients (May 2016), with both

adulthood and childhood onset of the disease.

53%47%

42 asintomatici

35.0 35.0 %%

26.0 26.0 %%

Molecular diagnosis (1200 pts)

19%single 19%single deletionsdeletions 20% ?20% ?

PEO 28.3%

Encephalo-myopathy

25.3%

Leber/ADOA 15.3%

MELAS 9.0%

Leigh 7.3%

KSS 2.1%MERRF 4.3%

Others 8.4%

Mitochondrial syndromes

mtDNA point mutations

nuclear point mutations

OPA1 35.4%

POLG1 20.5%

Twinkle 11.8%

ANT1 2.6%

TYMP 5,1

SURF1 10.3%

PDHA1 4.6%TK2 2.1%

others 7.6%

MAIN CLINICAL SYMPTOMS SIGNS IN OUR COHORT

Ocular myopathies and PEO in the Italian Network of Mitochondrial Diseases

Michelangelo Mancuso in behalf of the Italian Network of Mitochondrial Diseases

1197 patients Males 574 (48.0%), females 623 (52%). Onset 24.4 ± 20.5 years; last evaluation 39.8 ± 22.3

years.Clinical picture fully available for 1100 patients.

Ongoing…Ongoing…

MITOCONDRIOPATIE QUALI FARMACI?

Dr. Michelangelo MancusoNeurologia

Università di Pisa

Preventative Care Guidelines for patients with Mitochondrial Disease.

Mancuso, Muscle and neuropathy guidelines

INTERNATIONAL REGISTRY NETWORK

GENOMIT CONSORTIUM (LAMPERTI)

IMP -> SANTANTONIO

International Registry International Registry networknetwork

Dr Carolyn Sue (Australia)Dr Eino Palin (Finland)Prof. Anu Suomalainen (Finland)Dr Massimo Zeviani (Italy)Dr Victoria Nesbitt (UK)Prof. Jan Smeitink (Netherland)Prof. T. Klopstock (Germany)Dr M. Mancuso (Italy)Dr Robert McFarland (UK)Prof. Doug Turnbull (UK)Mr Simon Cockell (UK)Dr Michio Hirano Dr S DiMauro (USA) IMP delegates (Mitocon, DGM, UMDF)