Olaf Bodamer, MD, PhD, is associate chief of the Division of Genetics and Genomics at Boston Children’s Hospital and is launching a multidisciplinary clinic this spring for lysosomal storage diseases—including Niemann-Pick type C, sometimes referred to as “childhood Alzheimer’s.”
Niemann-Pick disease type C (NP-C) has come a long way since its first description as an entity in the 1960s. Part of a group of rare metabolic disorders known as lysosomal storage diseases, NP-C leaves children unable to break down cholesterol and other lipid molecules. These molecules accumulate in the liver, spleen and brain, causing progressive neurologic deterioration.
I still vividly remember when I diagnosed my first patient with this devastating disease, a 3-year-old boy who had global developmental delay, restricted eye movement, loss of motor coordination and loss of speech. I spent hours with the family, explaining what was known about NP-C. When faced with the question about treatability and outcome, I could barely find the right words, but had to acknowledge that the outcome was inevitably fatal and that there was no specific treatment other than supportive measures to treat his symptoms. That was in 2001, and I have since lost touch with the boy’s family, but it is safe to assume he has passed away.
In recent years, better understanding of the underlying biology of rare diseases such as NP-C has enabled the identification of therapeutic targets. That has led to some exciting developments. The Orphan Drug Act, among other political initiatives, has allowed the biotech industry to switch into high gear, and the last years have seen a rush of new therapies ranging from recombinant enzymes to small molecules to gene therapy addressing the unmet needs of a number of rare diseases. Today, Gaucher disease, Fabry disease and Pompe disease are treatable disorders, though still far from being curable.
In the case of NP-C, a sugar molecule called cyclodextrin has emerged as a candidate drug—largely driven by the efforts of a parent. The NIH began safety tests of cyclodextrin in patients two years ago. Last month, Cydan Development, a venture set up to accelerate drug development for orphan diseases, launched its first spinoff company, Vtesse, which will be focused on advancing clinical trials for NP-C drugs. NIH researchers will team with Vtesse in this effort, as described by Vtesse CEO Ben Machielse:
As we discover more treatments for these rare conditions, early diagnosis through the development of sensitive laboratory assays, coupled with increased awareness among clinicians, will improve patient outcomes and prevent long-term complications. While treatable does not necessarily mean curable, we are excited to see these new treatments go through clinical trials so we can finally provide state-of the art care for these complex conditions.
In 2010, Vector featured the story of Chris Hempel, the mother of two girls with NP-C who almost single-handedly got cyclodextrin onto the research agenda, obtaining Food and Drug Administration permission to give the drug to her children on an experimental basis. Read more coverage in the Wall Street Journal and on addiandcassi.com.
For more information on Boston Children’s clinic for lysosomal storage diseases, contact Dr. Bodamer at firstname.lastname@example.org.