A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition

Substances in the body, so-called biomarkers, can help predict the severity of Gaucher disease (GD)-related bone problems in adults. The main aim of the study is to determine if certain biomarkers found in the body at the time of diagnosing GD can help predict the risk of bone problems after 4-5 years.There is no treatment involved in this study. The study will review previously collected participants' data using a database. Data from both adults with type 1 Gaucher condition as well as healthy adults will be compared.

For Participants with GD1:Inclusion CriteriaParticipants with confirmed diagnosis of GD1.Determination of Glucocerebrosidase (GCase) blood activity at diagnosis of GD1.DNA analysis result demonstrating pathogenic variants in the Glucocerebrosidase gene (GBA1) gene.Available data of clinical state at diagnosis and at 4-5 years from diagnosis, including S-MRI, Dual energy x-ray absorptiometry (DXA), and GD1 severity scoring system (GD1-DS3) indexes (or data to calculate it).Exclusion Criteria• Evidence of hepatitis B, hepatitis C infection or other chronic infectious diseases.For Healthy VolunteersExclusion CriteriaEvidence of hepatitis B, hepatitis C infection or other chronic infectious diseases.Evidence of bone disease.