The San Raffaele Telethon Institute for Gene Therapy (SR-Tiget)

Clinical Research Unit

The Clinical Research Unit (CRU) was established in 1999 to create an infrastructure with dedicated staff and in house expertise for conducting clinical trials for genetic diseases. The overall goal of this Unit is the application of basic research discoveries and innovative gene and cell therapy approaches to the treatment of genetic diseases, focusing on primary immunodeficiencies, genetic autoimmune diseases, hemoglobinopathies, and lysosomal storage disorders. It provides a suitable environment to translate the results from basic and clinical research into clinical practice and viceversa. The Unit was established through a dedicated grant of the Fondazione Telethon to SR-Tiget. During these years, the CRU has been recognized as a center of excellence for the treatment of pediatric patients affected by genetic disorders.

The Unit is led by Alessandro Aiuti and operates in cooperation with the Pediatric Immuno-Hematology Unit (directed by Alessandro Aiuti) and the Hematology and Bone Marrow Transplantation (BMT) Unit (directed by Fabio Ciceri) of the San Raffaele Hospital.

The CRU has dedicated spaces and personnel, including physician scientists, clinicians, nurses and technical staff. The clinical activity of the Unit is mainly focused on gene and cell therapy for genetic disorders. The Unit has access to 3 pediatric inpatient rooms (with filtered air and isolation) in the BMT Unit, as well as 2 Day Hospital beds and an outpatient clinic in a dedicated building within the Pediatric Department. Children who do not need special isolation are hospitalized in the Department of Pediatrics, which hosts 50 beds, 40 for children and 10 for newborns. The outpatient activities are carried out in three different clinics: one for immunological disorders, one for hematological disorders and one for rare neurological disorders.

The pediatric BMT Unit has obtained ISO certification, is approved from the Italian Pediatric Hematology-Oncology Association (AIEOP) and has obtained JACIE certification together with the adult BMT Unit. The clinical staff is composed of hematologists, pediatricians, resident fellows in Pediatrics, and nurses trained in BMT and good clinical practice (GCP).

The CRU has all the expertise for performing in house advanced therapies-based clinical trials in pediatric patients according to GCP. These activities are managed by the SR-Tiget clinical trial office (TCTO), ISO 9001 certified. The staff of TCTO includes two research nurses, two data managers, two regulatory affairs officers, a clinical monitor, a pharmacist, a secretary, and a cultural mediator.

Clinical research activities are focused on the implementation of experimental protocols based on gene or cell therapy for the treatment of genetic disorders such as ADA-SCID, Wiskott-Aldrich Syndrome, Metachromatic Leukodystrophy (MLD) and beta thalassemia. Studies to improve the knowledge of genetic diseases include the natural history study for MLD, advanced diagnosis and natural history of primary immunodeficiencies and immunodysregulatory disorders, and immune reconstitution after hematopoietic stem cell transplantation for genetic disorders.

Active Clinical Trials

  1. ADA gene transfer into hematopoietic stem/progenitor cells for the treatment of ADA SCID
    PI: Alessandro Aiuti; Co-PI: Maria Grazia Roncarolo, Fabio Ciceri
  2. Hematopoietic stem cell gene therapy for Wiskott-Aldrich Syndrome
    PI: Alessandro Aiuti; Co-PI: Fabio Ciceri, Maria Grazia Roncarolo
  3. Phase I/II clinical trial of HSC gene therapy for the treatment of Metachromatic Leukodystrophy
    PI: Alessandra Biffi; Co-PI: Luigi Naldini, Maria Grazia Roncarolo, Maria Grazia Natali Sora

Clinical Research Unit Staff
Name Position
Alessandra Biffi Head of Unit, RUF
Maria Ester Bernardo Pediatrician
Maria Pia Cicalese Pediatrician
Francesca Ferrua Pediatrician
Maddalena Migliavacca Pediatrician
Federica Barzaghi Resident fellow
Marta Frittoli Resident fellow
Laura Lorioli Resident fellow
Roberta Pajno Resident fellow
Francesca Fumagalli Consultant neurologist
Francesca Ciotti Consultant psychologist
Sabrina Canale Consultant neuropsychologist
Clara Soliman Head nurse
Miriam Casiraghi Research Nurse TCTO
Gigliola Antonioli Research Nurse TCTO
Laura Castagnaro Data Manager
Marcella Facchini Data Manager
Emanuela Mrak Monitor TCTO
Marco Bonopane Regulatory Affair officer TCTO
Antonio Martelli Regulatory Affair officer TCTO
Maria Albrecht Pharmacist TCTO
Giuliana Tomaselli Secretary
Samih El Hossary Cultural Mediator

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