Funding boost for Neurofibromatosis Type 1 research into muscle weakness

11 May 2018

Congratulations to Associate Professor Aaron Schindeler, who has been awarded a Drug Discovery Initiative grant from the US Children’s Tumor Foundation.  The project will investigate treatments for muscle weakness and fatigue associated with the genetic disease Neurofibromatosis type 1 (NF1), to help children suffering from the condition.   

NF1 is one of the most common genetic disorders, affecting 1 in 3000 people.  It is a complex disease characterised by benign tumours along the nerves in the skin, brain, eye and other parts of the body.  Other complications include learning difficulties, fatigue and musculoskeletal problems such as scoliosis, poor bone healing, and muscle weakness.

Until recently, anecdotal evidence from parents suggested that their children with NF1 were struggling physically compared to other children their age.  Research led by Professor Josh Burns at Kids Research has since quantifiably shown this reduction in muscle strength, which can be up to 43% lower than in children with typical development.

This can dramatically affect their interactions with peers and their ability to take part in sporting activities and school life.

Head of the Bioengineering and Molecular Medicine Laboratory, A/Prof Schindeler has long been interested in these musculoskeletal effects of NF1. He has been conducting research in this area for 15 years, and has published extensively on treatments for slow-healing bone fractures seen in NF1 patients.

In the last five years, A/Prof Schindeler and his laboratory team have been investigating why and how NF1 causes muscle weakness, and are investigating treatment options based on their findings.

Using mice models, the team found a build-up of long-chain fatty acids in muscle fibres, a feature consistent with other diseases characterised by muscle weakness.  

These enlightening findings led them to test a dietary intervention in the mice, where long-chain fatty acids were minimised in favour of short- and medium-chain ones, and L-carnitine, an essential transporter of long-chain fatty acids was incorporated into the diet. 

The results within 8 weeks were significant, with a 71% drop in the storage of fatty acids in muscle fibres, and a 45% increase in strength.   

The competitive funding awarded by the Children’s Tumour Foundation will enable further preclinical optimisation of these dietary interventions, with the goal of identifying which aspects are the most effective at improving symptoms.

It will also determine how important compliance with the regimen is for achieving long-term reversal of symptoms.

The group will also be concurrently conducting a small early-phase trial to test for adverse effects and benefits of the diet in children with NF1.

Pictured (L to R): Sumedh Kamble, Emily Vasiljevski, A/Prof. Aaron Schindeler and Lucinda Lee of the Bioengineering and Molecular Medicine Laboratory



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