Progress in the treatment of a rare genetic defect
Published: Thursday, Jul 25th 2024, 12:00
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A team at Lausanne University Hospital has developed a gene therapy that increases creatine levels in the brains of rats with creatine transporter deficiency (KTD). This discovery paves the way for a potential treatment for this rare disease, which is responsible for 1 to 2 percent of cases of mental retardation and is currently incurable.
Creatine transporter deficiency SLC6A8 (DTC) is the most common form of creatine deficiency syndrome, a rare genetic disorder that leads to a deficiency of this molecule in the brain of those affected. The main symptoms of DTC include mental retardation, significant speech delay, behavioral disorders and autistic traits as well as musculoskeletal impairments.
DTC, which is probably largely underdiagnosed, is thought to be responsible for 1 to 2 percent of all cases of intellectual disability. To date, there is no satisfactory treatment for this disease, as the University Hospital of Lausanne writes in a press release.
Olivier Braissant's team has been developing various in vivo and in vitro models of genetic metabolic diseases as well as new treatment strategies for DTC for many years. Recently, the specialists achieved a significant breakthrough in this field with a gene therapy.
Viral vector
This approach aims to correct the genetic defect by re-expressing the functional creatine transporter SLC6A8 in the brain cells by injecting a specific viral vector. Initial experiments with an animal model, a genetically modified rat that mimics DTC, showed promising results, according to the paper published in the journal "Molecular Therapy".
In fact, gene therapy was able to both increase creatine levels in the brain and correct the changes in movement and behavior of the treated animals. This is the first time that positive effects of gene therapy have been observed in this rare disease in an in vivo model.
Although further development is required before clinical trials on human subjects can be considered, these results pave the way for potential treatments.
"Even though we still need to improve the efficacy of our injection protocol to maximize the neurological correction of the disease, this new approach has the potential to cure the disease in the long term," Professor Braissant is quoted as saying in the communiqué.
According to the authors, the method could also be used for many other genetic diseases that affect the nervous system. Scientists from the Swiss Federal Institute of Technology Lausanne (EPFL) were also involved in the research.
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