With tips on when to suspect an inborn error of metabolism, pediatric hematologist-oncologist Caroline Hastings, MD, describes how she came to a better understanding of Niemann-Pick disease type C – a journey that began with compassionate care for newly diagnosed twin toddlers and led to investigation of a treatment that extended their lives. Hastings explains why clinicians often miss this devastating condition and presents her findings on cyclodextrin therapy, which shows potential to restore cholesterol homeostasis and even reverse neurological damage. Bonus: a tool for assessing severity of Niemann-Pick.
- Describe clinical symptoms and findings that should lead to a suspicion for an underlying lysosomal storage disease.
- Describe how the mechanism of HPbetaCD (and other medical interventions) may differ between preclinical studies in animals vs. humans.
- Recognize how the benefits and toxicities of a drug intervention may differ between animals and humans (species specific), often due to the route, dose, or frequency of the administered drug.
- Discuss the correlation of biomarkers and clinical disease (progression and response to intervention).
- Recognize the impact of genetic and phenotypic variability and their correlation or ability to predict timing of disease symptom onset, rate of progression, absolute severity, and optimal time for intervention.