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

Takeda

Status: Completed

Conditions: Gaucher Disease

Treatments: Other: No Intervention

Study type: Observational

Funder types: Industry

Identifiers

NCT05702814

TAK-669-5010

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 125 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

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.

Trial design

125 participants in 4 patient groups

Group A: GD1 with Low-normal Bone Disease

Description:

Participants with GD1 with low-normal bone disease whose samples are available for analysis in BSSA will be collected retrospectively up to approximately 5 years from diagnosis.

Treatment:

Other: No Intervention

Group B: GD1 with Mild Bone Disease

Description:

Participants with GD1 with mild bone disease whose samples are available for analysis in BSSA will be collected retrospectively up to approximately 5 years from diagnosis.

Treatment:

Other: No Intervention

Group C: GD1 with Severe Bone Disease

Description:

Participants with GD1 with severe bone disease whose samples are available for analysis in BSSA will be collected retrospectively up to approximately 5 years from diagnosis.

Treatment:

Other: No Intervention

Group D: Healthy Participants

Description:

Healthy Participants whose samples are available for analysis in BSSA will be collected retrospectively up to approximately 5 years.

Treatment:

Other: No Intervention