Three Siblings’ Future Depends on First-in-Human Gene Therapy
Racing against time to save their children’s lives, Niclas and Jessica of Sweden weren’t going to let a worldwide pandemic nor international travel restrictions due to the coronavirus pandemic get in their way. Just hours before the borders closed to foreign visitors, the couple and their three children – all of whom have a fatal, neurodegenerative disease – cleared immigration in New York to head to their ultimate destination: The Children’s Inn and the NIH.
All three of their children, Hampus, 5, and his 3-year-old twin sisters, Julia and Isabella, have GM1 gangliosidosis, an ultrarare, neurodegenerative disease for which no treatment exists. Their sole hope for saving their children’s lives rests on a gene therapy trial conducted by the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center. The first-in-human gene therapy is designed to provide the siblings with healthy copies of their damaged gene through an injection. While researchers won’t know until later how well this approach works, the hope is to coax the children’s bodies into producing a crucial enzyme the children lack. If successful, the treatment could halt or possibly even reverse the children’s progressive nerve cell death.
“We had seen a few pictures of The Children’s Inn before, but we were struck by how beautiful the building and surroundings are when you see it in person for the first time. We are very happy how all of the staff takes such good care of us. To be greeted with a smile and a, ‘Good morning,’ or a friendly, ‘Hello!’ can make a difference when you’re having an otherwise difficult day. We appreciate all the things you do for our children and us. It helps to make living here feel a little bit more like home for us.”
GM1 Gangliosidosis Research
National Human Genome Research Institute (NHGRI)
Until now, there was no hope for children with GM1, and most patients died in young childhood after experiencing a swift decline. Time will tell whether this first-in-human gene therapy successfully halts or even reverses the disease’s inevitable effects. But for children like Hampus, Julia and Isabella, it’s their best and only hope. Read more about how researchers developed this groundbreaking treatment, how this type of gene therapy is delivered and who the researchers are who made the trial happen.