A test that can identify patients with Facioscapulohumeral dystrophy (Fshd) in 72 hours. It was developed by the Genomic Medicine group of the Santa Lucia Foundation in Rome, in collaboration with the Italian Union for the Fight against Muscular Dystrophy (Uildm). Facioscapulohumeral dystrophy is the third most common form of muscular dystrophy. It affects about one in 20,000 people and is characterized by a high clinical variability, which includes both mild and extremely severe forms.
Towards a gene therapy for the most common muscular dystrophy
by Barbara Orrico
Diagnosis and timing
But who is responsible for diagnosing the disease? The diagnosis is entrusted to a neurologist who, on the basis of the symptoms detected, directs the patient towards genetic analyzes capable of confirming or not the clinical suspicion. A long procedure up to now, given that these analyzes are mainly based on Southern Blot methods which often require a few months to obtain a definitive result.
To reduce time, the Genomic Medicine group of the Santa Lucia Foundation in Rome, in collaboration with the Italian Union for the Fight against Muscular Dystrophy (UILDM), has developed a test capable of recognizing patients with Fshd in just 72 hours. In particular, the test is based on DNA methylation analysis combined with Machine Learning algorithms.
By applying Machine Learning to the results of molecular analyses, the research group has revolutionized the diagnostic pathway of the disease, developing an innovative test validated on 283 patients. In particular, a specificity of 96% has been reported, making this test already available for patients with suspected Fshd who come to the Genomic Medicine laboratory of the Santa Lucia Foundation.
“Anticipating the diagnosis of a disease allows for a more prompt assessment of the therapeutic options available – explains Professor Emiliano Giardina, geneticist and director of the Laboratory of Genomic Medicine of Santa Lucia -. In the case of Fshd this can improve patient management and speed up access to recent clinical trials for the treatment of Fshd”.
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The result in a few days
With this new method, in just a few days, the referring physician can receive accurate evidence to support the clinical suspicion or specific indications to proceed with a differential diagnosis with other muscular dystrophies. “Thanks to the Santa Lucia Foundation’s recognition as Institute for Scientific Hospitalization and Treatment (IRCCS), we were able to make this test immediately available and offer it to all patients awaiting molecular diagnosis together with the traditional laboratory test – continues Giardina -. A result that we believe is very important for the families of the patients”.
The Santa Lucia Foundation, which has hosted the Lazio Uildm laboratory for years, carries out research on all muscular dystrophies, with the aim of better understanding their mechanisms as well as offering effective diagnostic and therapeutic solutions aimed at improving the quality of life of patients and their respective families.