For nearly 20 years he has had an unnamed disease. Now Claudia Di Gregorio, in her early twenties, she knows she is affected by a rare form of ALS that has just been discovered thanks to her and her participation in scientific research in the USA. Originally from Santeramo in Colle, in the province of Bari, at the age of 5 she had the first diagnosis of a neurological disorder. His illness, however, could not be classified because it had never been identified by the medical world.
The girl had been received in the Vatican by the pope Francesco who gave her a blessing before leaving for the United States of America to be examined by Dr. Carsten Bönnemann in the Nih Clinical Center, the National Institutes of Health. Unlike most cases of amyotrophic lateral sclerosis, the variant involving Claudia begins to strike in childhood, worsens more slowly than usual, and is linked to a gene, Sptlc1, which is part of the fat production system. bodily.
Like many other patients analyzed by the US research team, Claudia (who had told her story in the book When I grow up I want to walk together with her father Gaetano) needed a wheelchair to move and a surgically implanted tracheostomy tube to help her breathe. Neurological examinations conducted in the US revealed a pathology with many hallmarks of ALS, including muscles that are severely weakened or paralyzed.
But this shape immediately seemed different. Most ALS patients are diagnosed with the disease around 50-60 years of age and then it gets worse rapidly. In the cases studied at Nih, on the other hand, the initial symptoms, such as walking and spasticity, appeared in these patients when they were small, around the age of four.
At the end of the study it emerged that this variant is able to give a greater life expectancy to those affected. Today, for researchers, the discovery of the Sptlc1 gene link may pave the way for a new kind of treatment. “These preliminary results suggest that we may be able to use a precision gene silencing strategy to treat patients with this type of ALS,” explains Bönnemann.
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