NF Patients United

Global Network of Neurofibromatosis Patient Organisations

Research

Science and research update #2 2019

STUDY: BURDEN OF ADULT NEUROFIBROMATOSIS 1

A group of researchers along with the French national network on rare skin diseases (FIMARAD) have published their study on burden of adult neurofibromatosis 1 in May 2019. The study sought to develop a self-administered questionnaire in French to assess the burden of NF1, and then translate and culturally validate it into American English.

According to the conclusions, the researchers aimed at developing “a disease-specific questionnaire to measure quality of life in people with NF1” that would be “a specific tool for assessing the burden that NF1 generates on many practical aspects of the patient daily activities, beyond the notion of quality of life”. The questionnaire was developed by a multidisciplinary working group comprising experts from different fields and taking into account patient-reported outcomes.

NF Patients United congratulates the researchers and welcomes further steps to assess and improve the quality of life in patients with Neurofibromatosis.

The study is available here (English version).

NF2 BIOSOLUTIONS IS FUNDING GENE THERAPY AT A WORLD-RENOWNED RESEARCH INSTITUTE

NF2 BioSolutions is a Pennsylvania-based non-profit organization which was founded in July 2018 with the goal of fighting back against NF2 and supporting relevant research activities. Among the latter is gene therapy which targets the underlying cause of a disease and has the potential to replace the faulty NF2 gene with a healthy copy of the gene or to cause existing tumor cells to die off.

It has been recently announced that in July 2019 NF2 BioSolutions signed a contract to partially fund an NF2 Gene Therapy Pilot Pre-Clinical Study at the Abigail Wexner Research Institute at Nationwide Children’s Hospital (NCH) by Dr. Kathrin Meyer. Dr. Kathrin Meyer will be the principal investigator accompanied by two other researchers.

To learn more or support the project please visit NF2 BioSolutions website.

A DUTCH STUDY: BRAIN PLASTICITY IN ADULTS WITH NF1

According to an article published in NF Journal published by NFVN, a Dutch study focusing on the brain plasticity in adults with Neurofibormatosis type 1 could possibly explain difficulties in learning new motor skills in patients with NF1. Researchers used Transcranial Magnetic Stimulation in order to observe the response from motor cortex stimulation in order to understand the nature of these effects. The preliminary results demonstrate that the level of brain plasticity in adults with NF1 is indeed different from that in the control group, having slightly lower effects. In the follow-up study, Erasmus MC in Rotterdam aims to get the broader picture by registering electric activity of the brain and to understand whether these findings are also applicable to the other regions of the brain, or they only have to do with the impaired motor skills in patients with NF1.

Please contact us if you wish to participate in this research as a patient. The call is still open!

The original article in Dutch is available in NF Journal published by NFVN (edition June 2019).

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