Gaucher DiseaseNCT06116071
Biomarkers Related to Bone in Pediatric Gaucher Disease
An observational study of Gaucher Disease and Bone Diseases, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 1 site in United States.
Trial summary
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD). Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. Read more about this study
- Who is it for?
- Ages 5 to 21 yearsHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease, Bone Diseases
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Nov 2023to 31 Dec 2025
- 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 5 to 21 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. GD patients with and without bone abnormalities and growth retardation. The study population will comprise patients with Gaucher disease from Lysosomal \& Rare Disorders Research \& Treatment Center and who were referred to Lysosomal \& Rare Disorders Research \& Treatment Center who are 21 years or younger.
Who may be able to join
- The parent or legal guardian and the participant who is eligible to provide assent are able and willing to provide informed consent and assent when applicable.
- The participant is 5-21 years of age at the initial visit.
- The participant has a confirmed diagnosis of GD type 1 or type 3 (biochemically and/or genetically).
- In the investigator's opinion, the subject is capable of understanding and complying with protocol requirements.
- The subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures.
Who cannot join
- Any subject who does not meet any of the following criteria will not qualify for the study.
- Any current active chronic infection such as HIV, Hepatitis B or C.
- Pregnancy or breastfeeding for females.
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Lysosomal and Rare disorder research and treatment center
Fairfax, Virginia, 22030
Margarita Ivanova, PhD, 703-261-6220, mivanova@ldrtc.org
Ozlem M Goker-Alpan, MD, 7032616220, ogokar-alpan@ldrtc.org
About this study
Official title: Pilot Study to Assess Immune Biomarkers and Growth Factors Related to Bone Pathology in Pediatric Patients With Gaucher Disease
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD). Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. Levels of Lyso-Gb1, chitotriosidase, and CCL18 will be established for future bone biomarkers correlation analysis. Skeletal involvement will be assessed using standard clinical diagnostic tools, such as skeletal radiology and/or (DEXA). The comparator group will include age-matched healthy controls.
Clinically confirmed patients with GD will be stratified based on their disease severity (Gaucher disease type 1 and Gaucher disease type 3) and bone pathology findings. In addition, given that growth is a dynamic process during the pediatric age group, results will be ascertained with respect to phases of growth, i.e., early childhood, late childhood, adolescent, and young adult age groups. At the conclusion of the study, investigatirs expect to establish specific biomarkers of bone development and pathology in pediatric GD patients.
Read the detailed description
Gaucher disease (GD), the most common lysosomal storage disorder, is caused by a deficiency of the enzyme glucocerebrosidase. Clinically, there are three sub-types according to neurological involvement. Type 1 GD (GD1) is non-neuronopathic GD, and GD types 2 and 3 (GD2-3) are neuronopathic forms. Bone involvement includes skeletal structural abnormalities such as Erlenmeyer flask deformities, cystic changes, growth retardation, progressive kyphoscoliosis, osteonecrosis, bone density abnormalities, bone fragility, and pathological fractures occur at a spectrum in different GD clinical types.
While bone crises are rare (often referred to as Gaucher crises), avascular necrosis (AVN) may occur in the pediatric age group with long-term morbidity and is often associated with chronic pain and orthopedic deformities requiring multiple surgical interventions.
As known, the development of the skeleton development (longitudinal and bone mass growth) is subject to both environmental and genetic influences. During childhood, skeletal growth is characterized by rapid bone growth and continues to lengthen bones by adding bone tissue on the epiphyseal plate until adolescence. The thickening of long bones is processed by adding bony tissue to its surface. The process of bone remodeling and repair continues after birth and adulthood.
Bone marrow infiltration and bone remodeling defects termed "Erlenmeyer flask deformity" are the most common GD-related bone diseases. Without intervention directed at GD, bone involvement usually starts before puberty. Moreover, children with severe GD present retarded growth and delayed puberty (<5th percentile in 34% of children). However, the underlying mechanisms of regulation of bone development and related complications in the pediatric age group in GD are not yet fully known. Neither the bone-specific biomarkers nor their relationship regarding growth factors associated with normal bone turnover during the normal growth process have been studied in detail in GD in the pediatric age group. Abnormalities in skeletal growth and bone turnover may be related to the abnormal regulation of some growth factors, for example, the elevation of fibroblast growth factor 23 (FGF23) or inhibition of insulin-like growth factors (IGFs) resulting in bone growth impartment. Moreover, chronic inflammation leads to alterations in the function and differentiation of osteoclasts and osteoblasts, which participate in bone growth and remodeling.
Furthermore, the evaluation of bone involvement could be challenging for the pediatric age group. The marrow replacement due to GD that moves in the opposite direction with the expected disappearance of the red marrow makes it challenging to evaluate the bone marrow using MRI and requires experience and technical skills to interpret the imaging studies. In addition, the technique of bone density evaluation is still not uniform in children, especially for different age groups.
- Conditions
- Gaucher Disease, Bone Diseases
- Medical subject headings
- Gaucher Disease, Bone Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| GD subjects with normal growth rate and no bone involvement | No drug interventions. | |
| GD type 1 subjects with evidence of bone involvement | No drug interventions. | |
| GD type 3 subjects | No drug interventions. | |
| Non-GD age and gender-matched controls with normal growth rate and no known bone complications | No drug interventions. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood-based biomarkers that correlate with bone involvement in pediatric patients with GD.
DMP-1, Osteocalcin, DKK-1, BAP, RANKL, OPG, TRAP5b, CTX, SOST, SFRP1, PICP,PINP, CCL1, GM-CSF, Il-4, Il-5, Il-6, Il-10, TNFalpha concentrations units/ml
Measured: 24 months
Plasma Growth factors and bone development, including bone age, skeletal maturation and bone development abnormalities
IGF-1, IGFBP-3, TGFbeta, BMP6, BMP9, FGF2, FGF18, FGF21, FGF23 concentration in plasma units/ml
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Nov 2023
- Study start25 Nov 2023
- Primary completion25 Oct 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
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.
- 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
- Other
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Ozlem Goker-Alpan, MD, Principal investigator, Lysosomal and Rare Disorders Research and Treatment Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06116071
- Sponsor's protocol ID
- 23-LDRTC-02
- Status last verified
- Oct 2023
- First submitted
- 30 Oct 2023
- Last updated
- 13 Mar 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study to Assess Immune Biomarkers and Growth Factors Related to Bone Pathology in Pediatric Patients With Gaucher Disease
- ClinicalTrials.gov ID
- NCT06116071
- Acronym / sponsor ID
- 23-LDRTC-02
- Conditions
- Gaucher Disease, Bone Diseases
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.University, hospital or other
- Study start
- 25 Nov 2023 (actual)
- Primary completion
- 25 Oct 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 3 Nov 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.
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD). Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. Levels of Lyso-Gb1, chitotriosidase, and CCL18 will be established for future bone biomarkers correlation analysis. Skeletal involvement will be assessed using standard clinical diagnostic tools, such as skeletal radiology and/or (DEXA). The comparator group will include age-matched healthy controls.
Clinically confirmed patients with GD will be stratified based on their disease severity (Gaucher disease type 1 and Gaucher disease type 3) and bone pathology findings. In addition, given that growth is a dynamic process during the pediatric age group, results will be ascertained with respect to phases of growth, i.e., early childhood, late childhood, adolescent, and young adult age groups. At the conclusion of the study, investigatirs expect to establish specific biomarkers of bone development and pathology in pediatric GD patients.
Detailed description
Gaucher disease (GD), the most common lysosomal storage disorder, is caused by a deficiency of the enzyme glucocerebrosidase. Clinically, there are three sub-types according to neurological involvement. Type 1 GD (GD1) is non-neuronopathic GD, and GD types 2 and 3 (GD2-3) are neuronopathic forms. Bone involvement includes skeletal structural abnormalities such as Erlenmeyer flask deformities, cystic changes, growth retardation, progressive kyphoscoliosis, osteonecrosis, bone density abnormalities, bone fragility, and pathological fractures occur at a spectrum in different GD clinical types.
While bone crises are rare (often referred to as Gaucher crises), avascular necrosis (AVN) may occur in the pediatric age group with long-term morbidity and is often associated with chronic pain and orthopedic deformities requiring multiple surgical interventions.
As known, the development of the skeleton development (longitudinal and bone mass growth) is subject to both environmental and genetic influences. During childhood, skeletal growth is characterized by rapid bone growth and continues to lengthen bones by adding bone tissue on the epiphyseal plate until adolescence. The thickening of long bones is processed by adding bony tissue to its surface. The process of bone remodeling and repair continues after birth and adulthood.
Bone marrow infiltration and bone remodeling defects termed "Erlenmeyer flask deformity" are the most common GD-related bone diseases. Without intervention directed at GD, bone involvement usually starts before puberty. Moreover, children with severe GD present retarded growth and delayed puberty (<5th percentile in 34% of children). However, the underlying mechanisms of regulation of bone development and related complications in the pediatric age group in GD are not yet fully known. Neither the bone-specific biomarkers nor their relationship regarding growth factors associated with normal bone turnover during the normal growth process have been studied in detail in GD in the pediatric age group. Abnormalities in skeletal growth and bone turnover may be related to the abnormal regulation of some growth factors, for example, the elevation of fibroblast growth factor 23 (FGF23) or inhibition of insulin-like growth factors (IGFs) resulting in bone growth impartment. Moreover, chronic inflammation leads to alterations in the function and differentiation of osteoclasts and osteoblasts, which participate in bone growth and remodeling.
Furthermore, the evaluation of bone involvement could be challenging for the pediatric age group. The marrow replacement due to GD that moves in the opposite direction with the expected disappearance of the red marrow makes it challenging to evaluate the bone marrow using MRI and requires experience and technical skills to interpret the imaging studies. In addition, the technique of bone density evaluation is still not uniform in children, especially for different age groups.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| GD subjects with normal growth rate and no bone involvement | – | –No drug interventions. |
| GD type 1 subjects with evidence of bone involvement | – | –No drug interventions. |
| GD type 3 subjects | – | –No drug interventions. |
| Non-GD age and gender-matched controls with normal growth rate and no known bone complications | – | –No drug interventions. |
Who may qualify
- Ages
- 5 to 21 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Patients with clinically confirmed GD: deficient GCase enzyme activity and corresponding genetic analysis will be eligible for enrollment. GD patients with and without bone abnormalities and growth retardation. The study population will comprise patients with Gaucher disease from Lysosomal \& Rare Disorders Research \& Treatment Center and who were referred to Lysosomal \& Rare Disorders Research \& Treatment Center who are 21 years or younger.
Key inclusion criteria (5 listed)
- The parent or legal guardian and the participant who is eligible to provide assent are able and willing to provide informed consent and assent when applicable.
- The participant is 5-21 years of age at the initial visit.
- The participant has a confirmed diagnosis of GD type 1 or type 3 (biochemically and/or genetically).
- In the investigator's opinion, the subject is capable of understanding and complying with protocol requirements.
- The subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures.
Key exclusion criteria (3 listed)
- Any subject who does not meet any of the following criteria will not qualify for the study.
- Any current active chronic infection such as HIV, Hepatitis B or C.
- Pregnancy or breastfeeding for females.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Blood-based biomarkers that correlate with bone involvement in pediatric patients with GD.
Time frame: 24 months
DMP-1, Osteocalcin, DKK-1, BAP, RANKL, OPG, TRAP5b, CTX, SOST, SFRP1, PICP,PINP, CCL1, GM-CSF, Il-4, Il-5, Il-6, Il-10, TNFalpha concentrations units/ml
Plasma Growth factors and bone development, including bone age, skeletal maturation and bone development abnormalities
Time frame: 24 months
IGF-1, IGFBP-3, TGFbeta, BMP6, BMP9, FGF2, FGF18, FGF21, FGF23 concentration in plasma units/ml
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Mar 2024.
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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.
Ozlem Goker-Alpan, MD principal investigator
Lysosomal and Rare Disorders Research and Treatment Center
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 and Bone Diseases, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 1 site in United States.
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 5 inclusion and 3 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: status not confirmed, as of the sponsor's last update on 13 Mar 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 United States. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Margarita Ivanova, PhD (5714592367, mivanova@ldrtc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Blood-based biomarkers that correlate with bone involvement in pediatric patients with GD. (time frame: 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 13 Mar 2024; AzTrials last refreshed its copy on 7 Nov 2026.