Firefly Fund supporters believe every child deserves the opportunity to have a life filled with good health so that they can reach their full potential.
Children born with neurodegenerative diseases like NPC that go undiagnosed and untreated typically die before age 20. Firefly Fund is working hard to change this reality.
Today, Firefly Fund is focused on NPC — also referred to as Childhood Alzheimer’s — which is caused by a rare, genetic mutation being inherited from both parents. This ultimately leads to progressively debilitating symptoms and fatal disease. Currently there are no FDA-approved therapies to treat NPC, and there is no cure.
With Your Help, We Can Make a Difference
Firefly Fund is committed to filling unmet needs in the NPC community and not duplicating good work that has already been done. Your contribution will go directly toward Firefly Fund’s three core programs:
Firefly Fund is focused on funding medical research related to translational science for NPC. This means supporting efforts to move potential therapies being investigated in research laboratories into the clinic as quickly as possible. This means advancing research to get closer and closer to clinical practice, ensuring that children affected by NPC can still lead full and happy lives.
As a result of Firefly Fund’s efforts, a clinical trial of an investigational therapy known as VTS-270 is available at Dell Children’s Hospital in Austin for affected children in the region. Previously, NPC patients in the United States receiving this promising treatment would have to travel to Rush University Medical Center in Chicago, or the Mayo Clinic in Minnesota.
NPC can be detected in newborns with a simple blood test commonly referred to as newborn screening.
Firefly Fund has convened a national multi-disciplinary NPC Newborn Screening Workgroup working to add NPC to state and federal newborn screening lists. In addition, members of Firefly Fund’s NPC Newborn Screening Initiative had the opportunity to deliver a presentation at the 2020 NNPDF Family conference, updating participants on the latest developments with this important community activity.
In late 2019, we announced the launch of ScreenPlus, a pilot newborn screening study that will screen approximately 200,000 newborns. When this historic program launches, it will be the first time any newborn born anywhere in the world will be screened for NPC. Through this study, we plan to collect the evidence necessary to demonstrate that early diagnosis and intervention for NPC patients improves health outcomes. This study will also give us an opportunity to learn more about how NPC can fit into our existing public health infrastructure.
Firefly Fund offers essential resources and reassurance to families affected with NPC by providing information on treatments for slowing the progression of the disease or treating the symptoms as we work toward a cure.
Firefly Fund often gets calls from families all over the world because of the logistical and financial burden almost always associated with a rare disease diagnosis. These burdens make it difficult for these families to access the care they need for their loved ones with NPC. Thanks to the generous support of the organization’s partners and donors, Firefly’s Patient Access Fund is supporting three different NPC centers of excellence with grants that allow families who face these challenges to travel and get the care they desperately need.