Researchers at the US National Institutes of Health (NIH) are beginning a clinical trial for a rare, degenerative muscle disease. This is the first trial to begin under the official endorsement of the National Center for Advancing Translational Sciences (NCATS) and was announced this week just as the first permanent head assumed leadership of the NIH’s newest institute (see ‘NIH insider will head translational medicine centre’).

The trial, a partnership with the National Human Genome Research Institute (NHGRI), is for hereditary inclusion body myopathy, for which no treatments now exist. The first symptoms occur in young adults; their leg and arm muscles gradually weaken until a wheelchair is required.

“There will be more clinical trials,” says NCATS director Chris Austin. That the myopathy trial and his new job began the same week is “just a nice coincidence”, he says. Other trials for sickle cell anaemia and chronic lymphocytic leukaemia were launched earlier as part of a programme to find therapeutics in rare and neglected diseases that is now part of the NCATS. However, the NIH is the primary sponsor only for the myopathy drug, which was discovered by NHGRI scientists.

The trial exemplifies the kind of studies NCATS will promote, says Austin. Because the NCATS is “disease-agnostic”, it will partner with other NIH institutes with specific expertise. But rather than conducting trials using current best practices, the NCATS trials will be piloting new technologies or organizational structures.

For example, the myopathy trial is being conducted alongside another study collecting detailed genetic and medical information from afflicted patients. Not only can these data be used to evaluate this specific drug’s effects, but the study also paves the way for evaluating treatments for other diseases, because symptoms for rare, progressive diseases are hard to pin down. “We have learned an enormous amount about doing a natural history study well,” says Austin.

In other trials, says Austin, the NCATS will help to design best practices for evaluating combinations of drugs and for developing diagnostic tools for disease alongside with drugs for a disease.