Medical and Drug News 3 October 2008

Latest news and information on medical cures, diseases, and new drug release from around the world for 3 October 2008.

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.

Disability researcher, Dr Helen Leonard, from Australia's Institute for Child Health Research, said its InterRett online database had greatly expanded research into the neurological disorder Rett syndrome, which affects 1 in 8500 girls.

"In a rare disease like Rett syndrome, with considerable clinical and genetic heterogeneity, there is an urgent need and value for combining data from different sources through initiatives such as the international database InterRett, the IRSF Rett Phenotype Database," Dr Leonard said. "By having a web-based database, families and clinicians from around the world can contribute their information and help us to achieve a critical mass of data that begins to make statistically relevant analysis possible."

Rett syndrome is a relatively rare neurological disorder that usually affects girls. The clinical diagnosis has often been uncertain in early childhood as the symptoms may be confused with those occurring in other disorders such as autism, cerebral palsy and developmental delay. Rett syndrome affects around one in every 8,500 female births. Mutations in the MECP2 gene on the X chromosome have been identified as a cause of Rett syndrome. There is currently no known cure.

A study, led by researchers from Johns Hopkins University School of Medicine, was published in the October issue of Arthritis Care and Research. The results, based on analysis of almost 200 people with rheumatoid arthritis, found that those with increasing amounts of fat and decreasing amounts of lean mass (skeletal muscle) on the arms and legs had the most increasing disability linked with the highly inflammatory disease of the joints. The authors theorized that increasing fat may affect the normal range of motion of the arms and legs or that the fat may biochemically interfere with muscular function, but they said the most likely reason is that the fat may be infiltrating the muscles, reducing muscle quality.

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, announced today that Genentech Inc. has reported a case of progressive multifocal leukoencephalopathy (PML) in a 70-year old patient who had received Raptiva(R) (efalizumab) for more than four years of treatment of chronic plaque psoriasis. Genentech markets Raptiva(R) in the United States. In accordance with regulatory requirements, Merck Serono has informed regulatory agencies in its marketing territories outside the U.S. and Japan about this serious adverse event. Further reading

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