Università degli Studi di Bologna
Alma Mater Studior
Facoltà di Ingegneria
TESI DI DOTTORATO DI RICERCA IN
Bioingegneria
Titolo
Dottorando:
Melillo Paolo
COORDINATORE: Prof. Maria Triassi
Abstract
Evaluation of efficacy of gene therapy for Leber’s Congenital Amaneurosis
Case study: legally blinded patients affected by Leber’s Congenital Amaneurosis (LCA) who undergo
genetic treatment (clinical trials number NCT00516477: 12 patients, September 2007- July
2024).
Goals:
a) to develop objective techniques for the clinical effectiveness of gene therapy;
b) to investigate brain function in human subjects following recovery of retinal function
after a long period of visual deprivation;
c) early stage Health Technology Assessment
Methods: a) pattern recopgnition and data-mining applied to fMRI , pupillometry, electroretinogram,
autofluoroscence: GA, CART, NN, etc.
b) early stage HTA: horizon scanning, headroom, analytic hierarchy process etc.
Partners: Department of Opthalmology, Second university of Naples (Prof.ssa Francesca Simonelli);
University of Pennsylvania (Dr Jean Bennet, Dr Manzar Ashtari).
Biostructure and Bioimaging Institute of Naples, CNR (ing. Anna Prinster);
The University of Nottingham (ing. Leandro Pecchia).
Goals
Develop a central registry/repository for ocular diseases caused by genetic mutations
to improve the cooperation and coordination among groups that provide genetic
diagnostic information to the clinician and patient;
to maintain data banks of genotype-phenotype information.
to locate / identify patients who may wish to participate in clinical trials for new
therapies and who could be good candidates for the gene therapy;
to create the larger datasets necessary to identify novel genetic risk factors and
answer other epidemiologic questions.
Overview of the service
Gaant
Part 2: Methods of PR for CHF assessment
Introduction
Methods and Materials
Results
Remote processing for CHF
Discussion