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

NCT05702814 | Completed

• 1 other identifier: TAK-669-5010
• Study Type: observational
• Target: 125
• Locations: 1 country
• Sites: 1

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.

Conditions

Gaucher Disease

Keywords

Drug Therapy

Outcome Measures

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)

  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.

  Baseline up to approximately 4-5 years

Secondary Outcomes (11)

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

  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

  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

  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

  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

  Baseline to approximately 4-5 years

Study Arms (4)

Group A: GD1 with Low-normal Bone Disease

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.

Other: No Intervention

Group B: GD1 with Mild Bone Disease

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.

Other: No Intervention

Group C: GD1 with Severe Bone Disease

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.

Other: No Intervention

Group D: Healthy Participants

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

Other: No Intervention

Interventions

No Intervention OTHER

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

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Participants diagnosed with GD1 and healthy participants in Spain.

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• Takeda: lead

Study Sites (1)

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

Zaragoza, Aragon, 50006, Spain

Location

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Study Director

  Takeda

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2023
• First Posted: January 27, 2023
• Study Start: March 27, 2023
• Primary Completion: May 20, 2024
• Study Completion: May 24, 2024
• Last Updated: December 11, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Access Criteria: IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on https://vivli.org/ourmember/takeda/. For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.

Locations

ES (1)