Prospective analysis and continued monitoring of plasma deacylated glucosylceramide (GlcSph) in patients with Gaucher disease

There are two main components of the research plan, to be conducted under this continued grant funding: 1. Prospective analysis of GlcSph and correlation with clinical findings on patients with Gaucher disease consented and enrolled in our existing study ‘Genetic Disease Repository for Blood, Urine and Tissue’ (Duke IRB # Pro00007612) and attending the Duke Metabolic Clinics (PI: Priya Kishnani, MD). This will be achieved by measurement of GlcSph in patient’s naïve to treatment and patients currently on treatment (ERT or SRT), and correlation of GlcSph with clinical phenotype and routinely measured analytes. As mentioned above, we observed a correlation of GlcSph with historical biomarkers including chitotriosidase activity (CHITO), angiotensin-converting enzyme (ACE), and tartrate resistant acid phosphatase (TRAP). We plan to expand upon this with additional phenotyping of the current population to include: leukocyte count, hemoglobin, platelets, MCV, MCH, calcium, alkaline phosphatase, vitamin D, D-dimer, ferritin, lipids, ultrasound or volumetric MRI, bone assessment through regular DEXA/serial x-rays (every 3 years). Additionally, we would also monitor growth parameters (height, weight, and BMI) in our pediatric population. 2. To expand the number of subjects by collaborating with Emory HealthCare, Division of Medical Genetics. Emory will recruit patients with Gaucher disease and procure plasma samples from consented patients for GlcSph analysis to perform correlations with clinical and laboratory test information. Three years of additional funding will allow for long-term monitoring over 5 consecutive years (2 year current retrospective analysis study + 3 years of prospective analysis study) for Gaucher patients already included in the study, and for expansion of the cohort through new recruitment from Duke and Emory Health Systems.

Awarded By

  • Shire/Takeda



  • $243,073.00


  • April 1, 2020 - March 31, 2022