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.
Study Type
OBSERVATIONAL
Enrollment
125
As this is an observational study, no intervention will be administered.
Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher (FEETEG)
Zaragoza, Aragon, Spain
Change in Biomarker Level in Participants with GD1 at 4-5 years From Diagnosis Assessed per Spanish-Magnetic Resonance Imaging (S-MRI)
Areas like spine, pelvis, and femora will be evaluated and the MRI pattern will be ranged as normal=0, non-homogenous reticular pattern=1, non-homogenous mottled pattern= 2, non-homogenous diffuse pattern= 3, and homogenous pattern=4, and the presence of complications adds a value of 4. For each site, the maximum possible value assigned is 8, and the S-MRI is the sum of the score obtained at each site; thus, the S-MRI score ranges from 0 to 24.
Time frame: Baseline up to approximately 4-5 years
Change in Biomarker Level in Participants with GD1 at Diagnosis as Assessed per S-MRI
Areas like spine, pelvis, and femora will be evaluated and the MRI pattern will be ranged as normal=0, non-homogenous reticular pattern=1, non-homogenous mottled pattern= 2, non-homogenous diffuse pattern= 3, and homogenous pattern=4, and the presence of complications adds a value of 4. For each site, the maximum possible value assigned is 8, and the S-MRI is the sum of the score obtained at each site; thus, the S-MRI score ranges from 0 to 24.
Time frame: Baseline (At diagnosis prior to treatment start)
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
Time frame: Baseline (At diagnosis prior to treatment start)
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
Time frame: Baseline (At diagnosis prior to treatment start)
Change in Biomarker Level at Diagnosis as Assessed per Gaucher Disease Type 1 Severity Scoring System (GD1-DS3) Score in Participants with GD1
GD1-DS3 score ranges from 0 to a maximum of 19 for the disease domains bone (lytic lesions, AVN or pathological fractures, bone/joint pain, bone crisis, bone marrow infiltration, bone mineral density), hematology (thrombocytopenia, bleeding and anaemia) and visceral (splenomegaly, hepatomegaly, and Gaucher-related pulmonary disease). GD1-DS3 total score is a sum of the above three disease domain scores ranging from 0-3= borderline to mild disease, 3-6= moderate disease, 6-9= Marked disease, and +9=Severe disease.
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Time frame: Baseline (At diagnosis prior to treatment start)
Change in Biomarker Level at 4-5 years from Diagnosis as Assessed per GD1-DS3 Score in Participants with GD1
GD1-DS3 score ranges from 0 to a maximum of 19 for the disease domains bone (lytic lesions, AVN or pathological fractures, bone/joint pain, bone crisis, bone marrow infiltration, bone mineral density), hematology (thrombocytopenia, bleeding and anaemia) and visceral (splenomegaly, hepatomegaly, and Gaucher-related pulmonary disease). GD1-DS3 total score is a sum of the above three disease domain scores ranging from 0-3= borderline to mild disease, 3-6= moderate disease, 6-9= Marked disease, and +9=Severe disease.
Time frame: Baseline to approximately 4-5 years
Comparison Between in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 and Healthy Volunteers at Diagnosis
Time frame: Baseline (At diagnosis prior to treatment start)
Comparison Between in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 and Healthy Volunteers at 4-5 years at Diagnosis
Time frame: Baseline to approximately 4-5 years
Change From Baseline in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 and Healthy Volunteers at Diagnosis
Time frame: Baseline (At diagnosis prior to treatment start)
Change From Baseline in lyso-Gb1, ChT, CCL18, and Study Biomarkers Levels in Participants with GD1 at years at Diagnosis
Time frame: Baseline to approximately 4-5 years
Change From Baseline in Lumbar DXA Measurements: Bone Mineral Density (BMD), Z- score from Diagnosis
Bone mineral density of the lumbar spine would be measured by dual energy x-ray absorptiometry (DXA), and the results would be converted to Z-scores appropriate for age, sex, and race. The Z-score indicated the number of standard deviations away from a reference population in the same age range, race and with the same sex. A Z-score of 0 was equal to the mean. Negative numbers indicated values lower than the mean and positive numbers indicated values higher than the mean.
Time frame: Baseline and up to approximately 4-5 years
Change From Baseline in Lumbar DXA Measurements: Bone Mineral Density (BMD), T- score from Diagnosis
BMD T-score is the standard deviation of the difference between measured BMD and that of the healthy young adult "normal". The T-score scale was as follows: -1 and above=normal, -1 to -2.5=osteopenia (below normal and may lead to osteoporosis), and -2.5 and below=osteoporosis.
Time frame: Baseline and up to approximately 4-5 years