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Completed

NCT Number: NCT05702814

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.

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Key information

Conditions

Gaucher Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher (FEETEG)

Zaragoza, Aragon, 50006, Spain

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

As this is an observational study, no intervention will be administered.

Primary outcomes

  1. Change in Biomarker Level in Participants with GD1 at 4-5 years From Diagnosis Assessed per Spanish-Magnetic Resonance Imaging (S-MRI)

    Time frame: Baseline up to approximately 4-5 years

    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.

Secondary outcomes

  1. Change in Biomarker Level in Participants with GD1 at Diagnosis as Assessed per S-MRI

    Time frame: Baseline (At diagnosis prior to treatment start)

    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.

  2. 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)

  3. 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)

  4. Change in Biomarker Level at Diagnosis as Assessed per Gaucher Disease Type 1 Severity Scoring System (GD1-DS3) Score in Participants with GD1

    Time frame: Baseline (At diagnosis prior to treatment start)

    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.

  5. Change in Biomarker Level at 4-5 years from Diagnosis as Assessed per GD1-DS3 Score in Participants with GD1

    Time frame: Baseline to approximately 4-5 years

    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.

  6. 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)

  7. 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

  8. 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)

  9. 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

  10. Change From Baseline in Lumbar DXA Measurements: Bone Mineral Density (BMD), Z- score from Diagnosis

    Time frame: Baseline and up to approximately 4-5 years

    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.

  11. Change From Baseline in Lumbar DXA Measurements: Bone Mineral Density (BMD), T- score from Diagnosis

    Time frame: Baseline and up to approximately 4-5 years

    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.

Sponsors and collaborators

Lead sponsor

Takeda

Industry

Registry information

Official study title

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

Important dates

Study start
2023
Primary completion
2024
Study completion
2024
First posted
Jan 27, 2023
Registry last updated
Dec 11, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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