Neurology and neurosurgery advancements
Our neurology and neurosurgery specialists have 100+ research studies, one-third of which are industry sponsored clinical trials. Our faculty have also been awarded grant funding by the National Institutes of Health (NIH), Pediatric Epilepsy Research Foundation, the Patient-Centered Outcomes Research Institute (PCORI), among others.
FDA approves first drug for one person
9-year-old Mila had perplexing symptoms. Her parents took her to over 100 doctors across the U.S. before they arrived at Children's Colorado. Genetics specialist Austin Larson, MD, uncovered one of two rare mutations in Mila and diagnosed her with a type of Batten disease only 25 people in the world are known to have.
The location of Mila's second mutation was a mystery until Timothy Yu, MD, PhD, an attending physician and researcher at Boston Children's Hospital, found it hiding in noncoding DNA. With that, he developed a drug solely for Mila to fix her fragmented sequence. It's the first time the FDA has approved a drug for just one person — remarkable progress for precision medicine.
"The drug acts as a molecular patch, allowing the gene to be spliced back together in the proper way," Dr. Yu tells WBUR, Boston's public radio station.
Mila's treatments were initially in Boston, but a growing collaboration between Dr. Yu and Children's Colorado genetic epilepsy specialist Scott Demarest, MD, is now allowing Mila to receive this incredible treatment closer to home.
"The fact that Milasen is even possible tells us we have something to aim for and that there's a route we can take to make it accessible to more people," says Dr. Demarest. Using a new machine called Novaseq, Children's Colorado plans to commence its whole-genome sequencing program later this year.
Other significant advancements
- Kelly Knupp, MD, co-authored a study in JAMA Pediatrics on the comparative effectiveness of two drugs in the management of infantile epilepsy. The study found a possible benefit to changing traditional drug therapy strategies. These findings are leading to clinical trials and further investigation into medications used in this population.
- Julie Parsons, MD, participates in several clinical trials that continue to explore new types of life-saving treatments for spinal muscular atrophy. She is also part of a multicenter, longitudinal study to define the natural history of infantile spinal muscular atrophy to aid in future clinical trials and investigations into the management and treatment of the condition.