International Niemann–Pick Disease Alliance
Aaron (19 years old) and Taylor Adams (22 years old), received their first infusion for the clinical trial of Vtesse-270 on December 21st 2016 – the first participants in Australia. However Australian NPC Disease Foundation President Mandy Whitechurch, remains hopeful that the drug may also be approved for compassionate use for her sons, Timothy and Matthew, who were diagnosed with NPD almost ten years ago. Unfortunately as they are in their late 20s, they exceed the current age criteria for trial participants: “I’m still advocating for it because I can see the good in it — “I just hope it’s going to be in time for them”, said Mandy, who is understandably a strong campaigner for Niemann-Pick disease research.
Kellie Adam’s two children, and two others, are involved in the trial in Australia. One child and their family have travelled from New Zealand for the opportunity to participate in the trial. Mandy, Kellie, and the Australian NPC Disease Foundation as a whole, are working to spread awareness and inform patients across the world about this trial and the need for ongoing research on Niemann-Pick disease type C. In a show of how passionate they are about the positive expansion of NPD research, the two mothers flew to Europe to push access to this promising treatment: “this is our only hope,” commented Kellie, “as a parent, when your child has a condition there are no answers for, you’re going to do everything you can for that child. I didn’t have any second guesses in taking part in the trial.”
Although in a preliminary stage, the drug provides families with a Niemann-Pick type C diagnosis with a ray of hope. Royal Melbourne Hospital neuropsychiatrist Associate Professor Mark Walterfang, said: “it’s a bit like having a cholesterol traffic jam — cholesterol and related lipids are involved in a lot of different cellular processes and they are constantly being shuffled around in the body, but it’s like all the traffic lights stopping working.” The substances build up in the body and become toxic, which eventually kills brain cells, the drug used in the trial seeks to partially reverse the deficit of a protein, helping the “traffic” to move again.
Dr Ben Machielse, Chief Executive of Vtesse, the rare disease drug development company behind the drug, said it had not originally planned to include Australia in the trial. In fact, Mandy Whitechurch and Kellie Adams, who between them care for four children with the disease, didn’t even possess a passport before they flew to the 2015 Biennial INPDA Conference, in Mainz Germany, in an attempt to convince Vtesse to trial the drug in Australia. “Vtesse wasn’t initially going to bring it down under, but they decided after talking to us and hearing our stories they would like to help us,” said Mandy, “when you watch your child slowly have their brain eaten away by this disease, I can’t emphasise what a shining star this drug is”.