family affair.
The Milto family raised money for gene therapy study for Batten disease that included their son Nathan ( right ) and PJ.
The Milto family
signs a bold attempt to use gene therapy to treat a devastating rare disease that destroys the brains of children showed slower progression disease, according to a new paper. However, some experts are not convinced that the treatment, which involved streaming a virus in the brains of young patients actually worked.
The children all neuronal ceroid lipofuscinosis late infantile (LINCL), a form of the neurodegenerative disorder Batten disease. They were born without a working copy of CLN2 , a gene whose protein helps lysosomes - garbage elimination of the cell structures - decompose a waste called lipofuscin. Therefore, lipofuscin accumulates and eventually destroys the neurons, causing the brain to shrink. Children with LINCL appear normal at birth, but by the age of 2 to 4 show signs of development problems and often have seizures. Finally, blind and confined to a wheelchair, they usually die from 8 to 12 years.
therefew years, gene therapy researcher Ronald Crystal and colleagues at Weill Cornell Medical College in New York has slowed with LINCL success in mice using gene therapy in the brain. To test the safety of the approach in humans, the team treated 10 patients LINCL aged 3 to 10 years from 04. After anesthetizing children, researchers have drilled six holes 2 mm wide in their skulls. They then dripped into a solution of a harmless virus that was modified to carry a good copy of CLN2 gene. Four children had an immune response, but it was sweet. One patient developed seizures two weeks later and died 49 days after surgery. However, she has not had an inflammation of the brain, and Crystal said he did not know whether his death had anything to do with gene therapy.
Over the next 18 months, the Crystal team conducted neurological tests and magnetic resonance imaging (MRI). Although MRI scans have suggested that the brains of children treated were shrinking less than they would have otherwise, the results are not statistically significant. On measures of motor function, language, and the frequency of attacks, however, the children seemed to deteriorate more slowly compared to untreated patients, from about two points lower on a scale of new checkpoints. "This suggests [of efficacy] and encourages us to move forward," said Crystal, whose team reports its findings online today in Human Gene Therapy . The study of about $ 8 million was funded by the Nathan Battle Foundation, which was started by the parents of two siblings with LINCL, both of whom were enrolled in the study.
experts are shown the results with caution. "This is potentially exciting, but it is also potentially will not stand," says neurologist Jonathan Mink of the University of Rochester Medical Center in upstate New York. main flaw of the study, says Jonathan Cooper a neuroscientist at King's College London in the UK, these are untreated patients used for comparison. it is unclear how comparable these controls were in their stage of disease with patients, so it is difficult to be sure that patients did better than they would have otherwise.
Crystal hopes to improve on the results of his team using another type of viral vector that worked much better in mice in his later studies. He said the next trial could begin within a year.
Meanwhile, the researchers treated another disease of hereditary childhood brain called Canavan disease with gene therapy. The lead investigator on one of these tests, Paola Leone of the University of Medicine and Dentistry in Camden, New Jersey, said his team is preparing a manuscript on his study of 13 patients. At meetings, she reported "significant improvement" in some measures of cognitive and motor function.
Related site
- Information Batten disease
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