The Company

Miogen Lab is a research lab of the University of Modena and Reggio Emilia, involved in neuromuscular diseases research, that has established the Italian facio-scapulo-humeral muscular dystrophy (FSHD) Registry. Miogen Lab provides molecular diagnosis, genetic analysis and counselling for patients and families with facio-scapulohumeral muscular dystrophy.


The Challenge

Designing and developing a clinical research web platform for the Italian FSHD Registry, one of the largest European registries that collects, since 1993, clinical and genetic data from patients affected by FSHD and their relatives, listing over 6,600 subjects and more than 2600 families. Key elements:
• Integrating laboratory molecular data and radiological scans with clinical data from the FSHD registry on the OpenClinica ™ platform
• Implementing Big Data Analytics functionalities to analyze the clinical and molecular data in the Registry and achieve a better understanding of the evolution and heredity of the disease


The solution

Italian FSHD registry
Miogen Lab’s Italian FSHD Registry platform is a framework based on the MOMIS Dashboard system and on the OpenClinica ™ open source EDC platform enabling:
• Integration of the results of genomic and radiological exams with clinical data
• Search, analysis and extraction of clinical and molecular data to facilitate collaboration and information exchange within biomedical and clinical research
• Appropriate Big Data Analysis techniques to increase information on individual samples
• Compliance with international guidelines



• Advanced interface for the viewing and analysing data related to patients’ phenotypes and alleles
• Inquiry on the inherited modes of transmission of FSHD in relation to other exogenous factors
• Geolocation of enrollment and of genealogical links between diseases and related phenotypes
• Potential identification of new genetic and environmental factors that become useful for both diagnostics and prognosis