Breakthrough treatment for kids with NF1 muscle weakness

A commonly available nutritional supplement has inspired 11-year-old William Aberley’s self-confidence as he takes part in sports, both in and outside of school. This might seem ordinary, but not for William, who was diagnosed with Neurofibromatosis type 1 (NF1) as a toddler.

NF1 is a hereditary genetic disorder affecting about 1 in 3,000 children worldwide. It’s commonly characterised by multiple café-au-lait spots on the skin and benign tumours on the covering of the nerves. It can cause a child to feel very weak and have low energy, which often leads to impaired physical ability.

However, a new breakthrough treatment has the potential to help children with NF1 who complain of muscle weakness and fatigue.

This treatment has been successfully trialled in a study led by Associate Professor Aaron Schindeler and Dr Emily Vasiljevski at The Children’s Hospital at Westmead (CHW). The researchers found that L-carnitine, a supplement used by athletes to prevent muscle fatigue, can considerably improve muscle function in children with NF1. The work was supported by the Children’s Tumor Foundation (CTF), a US organisation that promotes research into NF1, NF2 and Schwannomatosis.

Six children, aged between 9 and 12 years old, participated in the 12-week trial at CHW. The children were given a 500mg capsule of L-carnitine twice daily. All patients in this world-first trial recorded significant improvements, with no reports of major adverse events.

It’s been over 18 months since William took part in the trial. So pleased with the results, his father Brendon Aberley said they have continued using the supplement, and will do so until he gets older.

“It’s made a big difference in his way of life. Being able to be included in sports more because he can actually do a bit more and a lot more self-confidence.”

Before the trial, Brendon said his son would tire out very easily.

“Say with his swimming lessons, he couldn’t swim 10 metres in the pool, and he would get frustrated and lose concentration. He just didn’t have the energy or the muscle tone to do it.”

But even mid-way through the trial, William starting feeling the benefits.

“It was really good. He could swim 10 metres in the pool and once he could see that he could do that, it gave him a bit more motivation to keep going.”

The study’s lead author Dr Emily Vasiljevski hopes to extend the results of this trial across NSW and even nationwide.

“I would absolutely love to see a larger trial with a control group. I think many more children with NF1-associated muscle weakness and fatigue could benefit from this treatment.”

Seeing how it improved his son’s quality of life, Brendon agrees.

“It’s helped William a lot, so I think it could help a lot of the kids with the low muscle tone problems.”