Archive News 2012

The University of Nijmegen, the companies Khondrion and Mercarchem and three patientorganisations (VSN, VKS and IMP) have, as a consortium, received a grant of three million euros from the Dutch authorities (ZonMW). With the grant the parties involved aim at developing a treatment for the MELAS syndrome, a serious mitochondrial disorder which affects children as well as adults.

In recent years, the conviction that patients registers are valuable tools to support scientific research and to define policies to support families has grown. With respect to mitochondrial disorders many national registries have been developed over time, with different degrees of success and on the basis of different set-ups.

At the initiative of IMP rehabilitation specialists in Italy and The Netherlands are cooperating in research into a possible development of a common rehabilitation standard for mitochondrial patients. As long as there is no definite therapy or medication for mitochondrial disorders, there should be a rehabilitation standard for all countries in the world to be used by rehabilitation specialists, physical therapists and others. IMP strongly advocates that the knowledge and experience which is now present in this respect should officially be established in a guideline, a standard, to be used by specialists working with mitochondrial patients. The development of such a standard is by no means an easy job because the group of mitochondrial patients shows many varieties in symptoms. There is no 'standard' patient. Yet, IMP found a number of rehabilitations specialists willing to look into the possibilities. A start is now being made for children with mitochondrial disease. We will keep you informed about the progress.

In a new project, funded by MDC, Dr Shamima Rahman at the University College London Institute of Child Health aims to identify new genetic changes causing mitochondrial diseases. This will provide a more accurate diagnosis for people with these conditions, helping clinicians provide better information about how the disease will progress as well as being able to give better family planning advice. Currently up to 80 percent of patients with mitochondrial disease do not receive a specific genetic diagnosis. The lack of a genetic diagnosis leads to great uncertainty about how the disease will progress and whether it might be passed on to future generations. Most importantly, lack of understanding of the precise causes is inhibiting the development of new and effective therapies for these currently incurable diseases. For more details: www.muscular-dystrophy.org

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