Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, describes the MOPPet study, a prospective, multicenter pilot study of Fabry disease clinical and biochemical findings in young pediatric patients. Data from this study was recently presented at WORLDSymposium 2022.
Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.
As Ms. Laney explains, the study is nearing the end after 5 years of data collection. Urinary biomarkers and first presenting symptoms are measured in each patient. They found that most patients follow a specific pattern of symptoms, beginning with bloating and increased flatulence, abdominal pain and diarrhea. According to this data, symptom onset ranges from 18 months to just over 3 years which is earlier than previous, retrospective data has suggested. Interestingly, no patients in the study have developed angiokeratomas despite it being a common feature of the disease.
For more information about Fabry disease and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/