Azienda Sanitaria Universitaria Integrata di Udine

Udine, ITALY

Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network

The Regional Coordinator Centre for Rare Diseases (RCCRD) staff has a long time experience in the field of lysosomal storage disorders (LSDs) at national and international level and is currently run by Prof. Dr. Maurizio Scarpa who is also the MetabERN coordinator. Since 1987 the RCCRD staff has been involved in the management of Niemann-Pick A/B patients (NPA/B). The staff has developed a first ERT approach with amniotic epithelial cells transplantation in 3 NPB patients.

Until now, more than 20 NPB, 4 intermediate and 9 NPA patients have been followed. At present they are involved in a phase I/II ERT trial in NPB. In May 1991 the group introduced ERT for Gaucher Disease (GD) in Europe, treating 4 GD3 patients. Since then, more than 123 GD1, 15 GD3 and 7 GD2 patients have been followed.

Concerning Pompe disease, in the period 1995 to present 37 patients (all phenotypes) have been treated by this team, both with “diet+physiotherapy” approach and with ERT (introduced in Italy by them in 2006). During the 90’s they also begun to follow NPC patients (to now, more than 30 patients), trying a therapeutic approach based on reducing cellular cholesterol intake by LDL-apheresis.

In 2008 they developed the first therapeutic protocol for miglustat in Italian NPC patients. They still follow 15 patients and are involved in a clinical trial with a small-molecule therapy. The team had also performed a miglustat trial in GM2 patients (Neurology, 2006). ERT experience in Fabry disease (FD) has been developed since 2002 (3 pediatrics and 7 adult patients).

The group has a wide experience with different therapeutic approaches:
– ERT;
– SRT and small molecules;
– Bone marrow transplantation;
– Developing of new molecules and plant derived enzymes.

The Laboratory of the RCCRD is a National and EU referent laboratory for biochemical and molecular diagnosis of LSDs. The laboratory is involved in different research programmes mainly focused on LSDs pathogenesis and development of innovative therapeutic approaches.

The main contributions that the HP can provide to the patients’ care within the Network are:
– Biochemical and molecular diagnosis of LSDs;
– Identification, analysis and follow-up of disease biomarkers;
– Development of LSDs human neuronal models from patients’ stem cells for preclinical studies;
– RNA based therapies for NPC and Pompe Disease;
– Gene editing approach for GD3.
– Management of individualized integrated therapeutic approaches to LSDs (ERT, SRT, chaperones, diet, physiotherapy, special needs);
– Management of neurological phenotypes of GD;
participation in GCP clinical trials;
– Development of clinical recommendations and guidelines;
– Psychological support programmes.


  • Diagnostic Area: biochemical and molecular pre and post-natal diagnosis of 17 LSDs. In addition, the laboratory provides a biobanking service dedicated to LSDs and Neurological diseases (DNA, fibroblasts and other tissue);
  • Prevention Area:
    – Genetic Counselling for Rare Diseases and inherited metabolic diseases;
    – coordination of epidemiological programs for Rare Diseases. HP coordinates the Regional Registry of Rare Diseases of the Friuli-Venezia Giulia Region, connected with the National Rare Disease Registry of the National Institute of Health;
    – screening programs: the RCCRD Rare Diseases Laboratory is the laboratory of reference for the biochemical and molecular diagnostic confirmation of dry blood spot screening test for 4 LSDs (GD, FD, Pompe, MPS I) included in a special regional program of enlarged metabolic screening;
    Clinical Area.
  • The RCCRD has long term experience in:
    – management and care of paediatric and adult LSDs patients, particularly regarding complications or special needs (i.e. BMT of organ transplantation, orthopedic and surgical procedures, PEG positioning, special diets, physiotherapy programs);
    – follow-up programs and management of specific therapeutic procedures (ERT, SRT, chaperones and biologics therapy, desensibilisation procedures);
    – management of skeletal complications in LSDs;
    – imaging (CT scan, NMR, Echography and neuroimaging – 3 TESLA NMR) and electrophysiological studies;
    – coordination of specialist visits (i.e. neurological, cardiologic, pulmonary and auditory evaluation) for LSDs patients;
    – individualized programs of psychological support for patients and families and development of community programs;
    – development of clinical recommendations and guidelines;
    – networking with other hospitals, therapeutic centres or community health services;
    -participation in phase I/II and II/III clinical trials (at present the RCCRD is involved in 2 phase I/II and one phase III clinical trial).
  • Education and Training: the HP has a dedicated Centre for the development and management of educational programs. The RCCRD every year participates in a continuous education medicine program organizing courses on rare diseases for health professionals. It also organizes (in collaboration with patient’s associations) every year specific meetings with patients and families. The RCCRD is part of the specialty school of Medical Genetics.
  • Paediatric to Adult Transition program: the RCCRD has developed a childhood to adulthood transition plan, in collaboration with local health care authorities. A special program is directed to improve patients’ autonomy and quality of life.
  • Research: the RCCRD leads several clinical and basic research projects on LSDs, particularly on GD1 and GD3, NPC, NPA/B and Pompe disease. Basic research projects are mainly focused in the study of LSDs physiopathology and the development of innovative therapeutic approaches.

Maurizio Scarpa, MD, PhD

Director, Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy