Scientific Projects of the GFB Foundation

Since 2012, the GFB Foundation has promoted and funded the following projects:

SCIENTIFIC RESEARCH

1.  2012 - GENE THERAPY PROJECT AT NATIONWIDE CHILDREN'S HOSPITAL, COLUMBUS, OHIO, PROFESSOR JERRY MENDELL
     β-Sarcoglycan Gene Transfer for Treatment of Limb Girdle Muscular Dystrophy Type R4

        The Gene Therapy Project funded by the GFB ETS

2. 2020 - RESEARCH PROJECT ON MUSCLE DIFFERENCES IN LGMDR4, LA SAPIENZA UNIVERSITY, ROME, DR. SANCHEZ CARLES RIERA
Characterization of a Beta-sarcoglycan null mouse model to unravel muscle differences on the same subject

3. 2024 - IPSCs PROJECT, GFB FOUNDATION AND MILANO HOSPITAL
IPSCs generation, characterization, and differentiation for LGMDR4 patients
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4. 2024 - PRODUCTION OF CARDIOMYOCYTES FROM IPSCS TO PROVIDE THE FIRST HUMAN MODELING AND IN VITRO CHARACTERIZATION OF HEART DEFECT SECONDARY TO SGCB MUTATIONS, PROFESSOR ELENA SOMMARIVA, MONZINO CARDIOLOGY CENTER, MILAN
In vitro characterization of heart dysfunction secondary to limb-girdle muscular dystrophy

CLINICAL RESEARCH

1.2018 - RETROSPECTIVE CLINICAL STUDY ON ITALIAN PATIENTS WITH LGMDR4, MILANO HOSPITAL, DR. YVAN TORRENTE AND GIULIA BRUNA MARCHETTI
Clinical determinants of disease progression in patients with beta-sarcoglycan gene mutations

2. 2021 - QUALITY OF LIFE STUDY IN PATIENTS WITH LGMDR3-R4-R5, FONDAZIONE GFB AND PROF. YVAN TORRENTE
Quality of life in patients with LGMDR3-R4-R5
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3. 2025 - GENETIC DIAGNOSIS IN SARCOGLYCANOPATHIES TO IDENTIFY THE SECOND VARIANT – DR. LEONELA LUCE, JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE
Long-read Whole Genome Sequencing (WGS) of single-hit sarcoglycanopathy patients
Has the potential to provide long-awaited genetic diagnoses in patients with sarcoglycanopathy, helping to end their long diagnostic journey. It will also serve as a valuable pilot project for the NGS team at the John Walton Muscular Dystrophy Research Centre. This project may pave the way for future large-scale long-read WGS studies aimed at solving unresolved neuromuscular cases.

4. 2026 - PATIENT REGISTRY, GFB FOUNDATION AND PROF. YVAN TORRENTE
GFB Sarcoglycan Registry
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