Clinical trial NCT05702814: A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition
Official title: Validation of a Set of Potential Biomarkers Predictive of Bone Complications in Type 1 Gaucher Disease Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Gaucher Disease
Keywords: Drug Therapy
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2023-01-27
Enrollment: 125
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants diagnosed with GD1 and healthy participants in Spain.

Brief summary: 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.

Detailed 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.

Eligibility 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.

Primary outcomes:
measure: Change in Biomarker Level in Participants with GD1 at 4-5 years From Diagnosis Assessed per Spanish-Magnetic Resonance Imaging (S-MRI)
timeFrame: Baseline up to approximately 4-5 years
Secondary outcomes:
measure: Change in Biomarker Level in Participants with GD1 at Diagnosis as Assessed per S-MRI
timeFrame: Baseline (At diagnosis prior to treatment start)
measure: Change in Biomarker Level At Diagnosis And Severity Of Bone Disease At Diagnosis As Assessed Per S-MRI in Participants with GD1 and no Bone Disease in Healthy Volunteers
timeFrame: Baseline (At diagnosis prior to treatment start)
measure: Change in Biomarker Level At Diagnosis And Severity Of Bone Disease At Diagnosis As Assessed Per DXA in Participants with GD1 and no Bone Disease in Healthy Volunteers
timeFrame: Baseline (At diagnosis prior to treatment start)
measure: Change in Biomarker Level at Diagnosis as Assessed per Gaucher Disease Type 1 Severity Scoring System (GD1-DS3) Score in Participants with GD1
timeFrame: Baseline (At diagnosis prior to treatment start)
measure: Change in Biomarker Level at 4-5 years from Diagnosis as Assessed per GD1-DS3 Score in Participants with GD1
timeFrame: Baseline to approximately 4-5 years
measure: Comparison Between in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 and Healthy Volunteers at Diagnosis
timeFrame: Baseline (At diagnosis prior to treatment start)
measure: Comparison Between in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 and Healthy Volunteers at 4-5 years at Diagnosis
timeFrame: Baseline to approximately 4-5 years
measure: Change From Baseline in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 and Healthy Volunteers at Diagnosis
timeFrame: Baseline (At diagnosis prior to treatment start)
measure: Change From Baseline in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 at years at Diagnosis
timeFrame: Baseline to approximately 4-5 years
measure: Change From Baseline in Lumbar DXA Measurements: Bone Mineral Density (BMD), Z- score from Diagnosis
timeFrame: Baseline and up to approximately 4-5 years
measure: Change From Baseline in Lumbar DXA Measurements: Bone Mineral Density (BMD), T- score from Diagnosis
timeFrame: Baseline and up to approximately 4-5 years
Other outcomes:
Locations:
city: Zaragoza
country: Spain
facility: Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher (FEETEG)
state: Aragon
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References: