Home Health Therapy with DNA fragments saves a child suffering from Sma – Medicine

Therapy with DNA fragments saves a child suffering from Sma – Medicine

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She risked dying in the very first years of her life and in any case not being able to walk or even sit up, due to the most severe form of Spinal Muscular Atrophy (SMA). But a new genetic therapy has probably changed the fate of a little girl, who is now 3 years old, being treated at the Regina Margherita pediatric hospital in Turin where she is followed by an interdisciplinary group. After the treatments and a double surgery he was finally able to stand up.

A new therapeutic horizon opens up, therefore, for a rare disease that affects about one in 10 thousand people and is a degeneration of motor neurons, ie the neurons that carry signals from the nervous system to the muscles, allowing movement to be controlled. Spinal muscular atrophy is a degenerative genetic disease at the moment impossible to diagnose before birth and which up to a few years gave little hope of survival.

Genetic modulation therapy was applied in the Turin hospital, developed by the ‘Regina Margherita’ Department of Pathology and Child Care of the City of Health, directed by Professor Franca Fagioli. A cutting-edge treatment – tested for the first time in the United States in 2016 – performed by Dr. Federica Ricci, of the Infantile Neuropsychiatry team (directed by Professor Benedetto Vitiello), in collaboration with the pediatric area of ​​the Neuromuscular Group (coordinated by professor Tiziana Mongini).

Gene modulation therapy is based on the use of short fragments of DNA, the antisense oligonucleotides that allow – explain the doctors – to produce the missing protein, necessary for the development and survival of motor neurons, ‘masking’ the spontaneous defect of the gene.

A drug is obtained from the fragments of DNA, administered into the cerebrospinal fluid through a lumbar puncture, to ensure that it reaches the motor neurons of the spinal cord. In pediatric age, after the first four lumbar punctures in two months, the therapy proceeds with administrations every 4 months.

In the case of the young Regina Margherita patient, genetic therapy was associated with a double surgery to correct the conformation of the hips, deformed due to another complication due to SMA. The operations were performed by the pediatric orthopedic hip surgery team of the same Department of Child Pathology and Care, composed of Dr. Alessandro Aprato and Dr. Mattia Cravino).

The surgeries have been perfectly successful and now the doctors, therapists and parents of the child are hoping to see her take the first steps.

In the meantime, screening for the prenatal diagnosis of SMA through a genetic test is expected in Italy – the first regions should be Lazio and Tuscany.

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