Gaucher DiseaseNCT05702814

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

An observational study of Gaucher Disease, run by Takeda at 1 site in Spain.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial 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. Read more about this study

Who is it for?: Ages 18 years and olderHealthy volunteers can take part
Conditions the study is for: Gaucher Disease
How many people: 125 participants
Where: 1 siteSpain
Study dates: 27 Mar 2023to 24 May 2024
Phase: Observational
Are there results?: None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 years and older
All sexes
Healthy volunteers accepted
Adult, Older adult

Study population: Participants diagnosed with GD1 and healthy participants in Spain.

Who may be able to join

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).

Who cannot join

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.

Trial locations and contacts

1 site in 1 country.

Spain1 site

Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher (FEETEG)
Zaragoza, Aragon, 50006

Other trials in Spain

About this study

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

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.

Read the 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.

Conditions: Gaucher Disease
Being tested: No Intervention
Keywords: Drug Therapy
Medical subject headings: Gaucher Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

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

Study groups in NCT05702814
Study group	Role	What they receive
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. Receives: 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. Receives: 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. Receives: 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. Receives: Other: No Intervention

What is being measured

The primary outcome is the main question the study is designed to answer.

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.
Measured: 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
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.
Measured: 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
Measured: 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
Measured: 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.
Measured: 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.
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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.
Measured: 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.
Measured: Baseline and up to approximately 4-5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

27 Mar 202324 May 2024

First posted27 Jan 2023
Study start27 Mar 2023
Primary completion20 May 2024
Study completion24 May 2024

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
More trials run by TakedaThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Case-control
Time perspective: Retrospective
Enrolment: 125 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT05702814
Sponsor's protocol ID: TAK-669-5010
Status last verified: Dec 2024
First submitted: 18 Jan 2023
Last updated: 11 Dec 2024
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: Yes: Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on https://clinicaltrials.takeda.com/takedas-commitment?commitment=5). These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

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Genetic Studies of Lysosomal Storage Disorders
Lysosomal Storage Disorders, Gaucher Disease
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RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
Parkinson Disease (PD), Type 1 Gaucher Disease
Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
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RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus

All Gaucher Disease trials

Study at a glance

From the registry record, last updated by the sponsor on 11 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Validation of a Set of Potential Biomarkers Predictive of Bone Complications in Type 1 Gaucher Disease Patients
ClinicalTrials.gov ID: NCT05702814
Acronym / sponsor ID: TAK-669-5010
Conditions: Gaucher Disease
Keywords: Drug Therapy
Study type: Observational
Recruitment status: Completed
Enrolment: 125 participants (actual)
Lead sponsor: TakedaIndustry (pharma, biotech, devices)
Study start: 27 Mar 2023 (actual)
Primary completion: 20 May 2024 (actual)
Study completion: 24 May 2024 (actual)
First posted: 27 Jan 2023 (actual)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

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 design

Observational model: Case-control
Time perspective: Retrospective
Number of arms: 4

Arm	Type	Receives
Group A: GD1 with Low-normal Bone Disease	–	Other: No InterventionParticipants 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.
Group B: GD1 with Mild Bone Disease	–	Other: No InterventionParticipants 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.
Group C: GD1 with Severe Bone Disease	–	Other: No InterventionParticipants 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.
Group D: Healthy Participants	–	Other: No InterventionHealthy Participants whose samples are available for analysis in BSSA will be collected retrospectively up to approximately 5 years.

Who may qualify

Ages: 18 years and older
Sex: All
Healthy volunteers: Accepted
Age groups: Adult, Older adult
Study population: Participants diagnosed with GD1 and healthy participants in Spain.

Key inclusion criteria (4 listed)

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).

Key exclusion criteria (4 listed)

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.

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
No InterventionAs this is an observational study, no intervention will be administered.	Other	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

Primary outcome

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.

11 secondary outcomes

Change in Biomarker Level in Participants with GD1 at Diagnosis as Assessed per S-MRI
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
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
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
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
Time frame: Baseline and up to approximately 4-5 years

Results and safety

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 11 Dec 2024.
Individual participant dataSharing planned: Yes. Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on https://clinicaltrials.takeda.com/takedas-commitment?commitment=5). These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.

Related trials for Gaucher Disease

Enrolling by invitationObservational study
Genetic Studies of Lysosomal Storage Disorders
Lysosomal Storage Disorders, Gaucher Disease
Active, not recruitingPhase 1/2
Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
Gaucher Disease, Type 2
RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
Parkinson Disease (PD), Type 1 Gaucher Disease
Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
Niemann-Pick Disease Type C, GM2 Gangliosidosis
RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Study Director study director

Takeda

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Gaucher Disease, run by Takeda at 1 site in Spain.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 11 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

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). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05702814.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Dec 2024.