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

Validation of a Set of Potential Biomarkers Predictive of Bone Complications in Type 1 Gaucher Disease Patients

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.

This is a non-interventional and retrospective study of participants with GD1 and healthy participants whose data is available in the Aragon Health Systems Biobank (BSSA) from the date of diagnosis to 4-5 years after diagnosis. The main objective of this study is to validate the prognosis value of a set of potential biomarkers related to bone disease in participants with GD1.

The study will enroll approximately 120 participants, and it would be divided into 4 groups as given below:

• Group A: GD1 with Low-Normal Bone Disease
• Group B: GD1 with Mild Bone Disease
• Group C: GD1 with Severe Bone Disease
• Group D: Healthy Participants

This study will have a retrospective data collection from the date of diagnosis of GD1 until 4-5 years from diagnosis by using data available in BSSA.

This single-centre trial will be conducted in Spain. The overall time for data collection in this study will be approximately 9 months.

For Participants with GD1:

Inclusion Criteria

• Participants 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 Volunteers

Exclusion Criteria

• Evidence of hepatitis B, hepatitis C infection or other chronic infectious diseases.
• Evidence of bone disease.