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Written on 25 June 2026. Posted in Uncategorised.

UPLOAD YOUR MEDICAL DOCUMENTS

In this form, you can upload your medical reports to be included in the new patient registry of the GFB Foundation, the “GFB Sarcoglycan Registry”:

blood tests
neurological consultations
pulmonary consultations
spirometry, oxygen saturation monitoring, polysomnography, blood gas analysis, and other respiratory tests
cardiology consultations
electrocardiogram, echocardiogram, Holter monitoring, cardiac MRI, and other cardiology tests
physiatry consultations
radiological exams, X-rays, MRI scans, six-minute walk test, 10-meter test, four-step test, hand function tests, and other assessments
diabetology consultations
orthopedic consultations
endocrinology consultations, bone densitometry / DEXA scan
other consultations related to muscular dystrophy
photographs and videos, such as running, walking, climbing stairs, etc.

Scientific Projects of the GFB Foundation

Written on 10 June 2026. Posted in Uncategorised.

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
read more

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
read more

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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