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Using gene transfer techniques pioneered by University of Floridafaculty, Taiwanese doctors have restored some movement in fourchildren bedridden with a rare, life-threatening neurologicaldisease. The first-in-humans achievement may also be helpful for more commondiseases such as Parkinson's that involve nerve cell damage causedby lack of a crucial molecule in brain tissue. The results arereported in the journal Science Translational Medicine. The children in the study, who ranged in age from 4 to 6, inheriteda rare disease known as aromatic L-amino acid decarboxylasedeficiency, or AADC. Patients with AADC are born without an enzymethat enables the brain to produce the neurotransmitter dopamine.They generally die in early childhood. In a phase 1 clinical trial led by Paul Wuh-Liang Hwu, M.D., of theNational Taiwan University Hospital, surgeons used a deliveryvehicle called an adeno-associated virus type 2 vector to transportthe AADC gene into localized areas of the brains of three girls anda boy. Before therapy, the children showed practically no spontaneousmovement and their upper eyelids continually drooped. Afterreceiving the corrective gene, the children gradually gained somehead movement. Sixteen months afterward, the children's weight hadincreased, one patient was able to stand and the other three wereable to sit up without support. The study shows gene therapy that targets AADC deficiency iswell-tolerated and leads to improved motor development andfunction, according to co-authors Barry Byrne, M.D., Ph.D.,director of UF's Powell Gene Therapy Center, and Richard O. Snyder,Ph.D., director of UF's Center of Excellence for RegenerativeHealth Biotechnology. Both are members of the UF GeneticsInstitute. "The children in this study have the most severe form of inheritedmovement disorder known, and the only treatments so far have beensupportive ones," said Byrne, a pediatric cardiologist andassociate chairman of the department of pediatrics in the Collegeof Medicine. "It is gratifying to see it is possible to dosomething to help them, other than providing feeding tubes andkeeping them safe. This absolutely opens the door to thepossibility of even earlier treatment of neurological diseases bydirect gene transfer, and has implications for Parkinson's disease , ALS and even cognitive diseases such as dementia when caused by gene defects." The Powell Gene Therapy Center provided expertise to the Taiwanesephysicians on treating the patients and engineering the correctivegene that spurs production of the absent AADC enzyme. UF's Centerof Excellence for Regenerative Health Biotechnology manufacturedthe vector, packaging genetic material it received from Taiwan intovirus particles that were purified, characterized and tested forsterility and stability before being shipped to the clinic for usein patients. "We are ecstatic that we manufactured a product that providedtherapeutic benefit to these patients," said Snyder, an associateprofessor in UF's department of molecular genetics andmicrobiology. "What really makes it special is there are just ahandful of examples of gene therapy in children in the world, andthese patients all improved." Doctors injected the AADC vector into a brain area called theputamen, a site known for AADC activity and part of a "loop" ofbrain connections related to movement. Postoperative CT and MRI scans of the patients showed no evidenceof bleeding and all four patients were discharged within a week.Three to six months after gene transfer, all the children hadgained weight, including one patient who doubled her weight withina year. Before gene therapy, all patients showed low raw scores incognition and motor development on a scale called the ComprehensiveDevelopmental Inventory for Infants and Toddlers. Afterward, scoresin both areas increased. Parents reported the children also sleptbetter and had improved eye coordination, emotional stability andbody temperature stability. Eight additional children - four in Taiwan and four in the UnitedStates - are expected to receive the experimental treatment, Byrnesaid. Additional References Citations. We are high quality suppliers, our products such as Boxed Power Supply , Warning Strobe Light for oversee buyer. To know more, please visits Dual PIR Detector.
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