Group Self-Organizing to Advocate for Cures to NF2

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Advocure is lobbying government and putting a more prominent face on this rare, but devastating, genetic disease.

recently launched a web site, http://www.advocurenf2.org, designed to help raise the profile of this devastating genetic disease.

Neurofibromatosis Type II (NF2) is one of a pair of historically linked, but genetically distinct, disorders. NF2 causes tumors to grow throughout the brain and spinal cord (Central Nervous System - CNS), threatening hearing, vision, mobility and even basic life functions like swallowing. While these are mostly benign tumors, they are ‘malignant’ by location and number. In its mildest form, the disease is characterized by bilateral acoustic neuroma -- tumors on both sides of the head. Eventually surgery or radiation becomes necessary, risking immediate deafness and facial paralysis. In almost all cases, deafness is the final outcome regardless. NF2 affects 1 in 35,000 newborns. Despite the fact that the NF2 gene was identified in 1993 and much has been learned about how the gene works, there is still no systemic drug therapy for NF2.

And therein lies the reason Advocure was formed.

While a number of drug trials have been in place for NF1 for some time, there are no promising trials for the sufferers of NF2. For 10 years, a US Army Congressionally Directed Medical Research (CDMRP) program has driven investigations into both of these debilitating diseases in a non-discriminatory basis. NF1 is much more common than NF2, affecting 1 in 3,500, and is characterized by dark skin markings (cafe au lait spots), multiple tumors on or just below the skin, and learning disabilities. Only a minority develop more severe CNS tumors.

However, in 2004, the CDMRP’s Neurofibromatosis Research Program (NFRP), took the controversial step of announcing a new NF Consortium Award, to develop the infrastructure and resources for investigators to conceive, develop, and conduct collaborative clinical trials - but for NF1 only.

Families dealing with NF2 were appalled at being left out in the cold in this new push towards clinical trials, and well aware of how not including NF2 right from the early set-up stages would impact future research directions. It seems the NFRP expected the NF2 community to be satisfied with vague promises to include NF2 at some stage in the future. It is one thing to live with a debilitating disease where patients often develop countless CNS tumors, but to live without hope is a much crueler proposition. The NF2 community found this blatant exclusion from the Consortium Award particularly disturbing. Advocure hopes to change that.

Advocure has undertaken to work towards ensuring NF2 sufferers will not be left behind. In the short term, the group will lobby relevant governing bodies and the medical establishment for the immediate inclusion of NF2 in this new award mechanism. Over the longer term, they will ensure that NF2 interests are represented on the boards and committees directing both research and research funding, to raise awareness about the devastation of the disease, and to advocate for the urgent implementation of drug therapy.

Their new website (http://www.advocurenf2.org) is a key part of that mission. The site features updated information on relevant research, how current scientific understanding can lead to therapies aimed at stopping NF2 tumor growth, helpful links in understanding and dealing with NF2, and information on where and how to donate to NF2-related charities. Advocure's site also features the personal stories, blogs and photography of many living with this destructive genetic anomaly.

As Advocure mobilizes, members hope to contribute to push therapies from theory into reality.

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Rosemary Lee
ADVOCURE
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