Gaucher Disease Type 1NCT04055831
Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
An observational study of Gaucher Disease Type 1, run by Lysosomal and Rare Disorders Research and Treatment Center, Inc. at 1 site in United States.
Trial summary
Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. Read more about this study
- Who is it for?
- Ages 16 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease Type 1
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- 15 May 2019to 15 May 2020
- 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 16 to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Clinically confirmed GD1 patients will be stratified based on their disease severity and bone density findings.
Who may be able to join
- To be enrolled in this study the subject must meet the following criteria
- Subject is greater than 16 years old but not older than 90 years
- Signed Informed Consent/Assent
- Subject is able and willing to sign informed consent or assent
- If the subject has GD1, the must have a confirmed diagnosis of Gaucher disease by
- GCase enzyme activity
- DNA analysis demonstrating pathogenic variants in the GBA gene
Who cannot join
- a) Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
LDRTC
Fairfax, Virginia, 22030
Ozlem Goker-Alpan, MD, 703-261-6220, ogokar-alpan@ldrtc.org
Margarita M Ivanova, PhD, 7032616220 ext. 5022957709, mivanova@ldrtc.org
About this study
Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. However, the underlying cellular/molecular basis of bone involvement and related complications in GD are not fully known. Neither are there any bone-specific markers associated with individual bone pathology. Early diagnosis of bone disease is the key issue for planning individual therapy to prevent and reverse bone disease in GD.
Read the detailed description
This clinical observational study is designed to identify specific biomarkers for bone involvement in patients with GD1 with decreased bone density and/or bone structural abnormalities
Aims:
- Identify novel immune cell surface and biochemical markers in peripheral blood correlating with bone involvement in GD.
- Assess the correlation between cytokine levels in peripheral blood and the severity of bone involvement in GD.
- Assess the relationship between glycosphingolipids accumulation and macrophage activation with specific bone markers and GD severity.
- Conditions
- Gaucher Disease Type 1
- Keywords
- Gaucher disease, Osteoporosis
- Medical subject headings
- Gaucher Disease, Osteoporosis
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 |
|---|---|---|
| GD1 subjects with no bone complications | 1. GD1 subjects with no bone complications (n=10) | |
| GD1 patients with mild bone complication | 2. GD1 subjects with mild bone complications | |
| GD1 with severe bone complications | 3. GD1 subjects with severe bone complications | |
| No bone disease | Controls with no known bone disease (n=10) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measure biomarkers level in molar/l/h
Bone homeostasis is dependent on the balance of deposition by osteoblasts
DMP-1, OSCAR, Calcitonin, Lyso-GB1, chitotriosidase, CCL18, osteocalcin, BALP, cathepsin K , TRAP 5, RANKL, OPG, DDK-1, sclerostin, MCP1, IL-2, IL-6, IL-10, SRTH2 and TNF-α
Measured: 18 months
Measure biomarkers level: molar/mg/h
DMP-1, RANK, OSCAR, cathepsin K, OPG
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Aug 2019
- Study start15 May 2019
- Primary completion15 Apr 2020 (estimated)
- Study completion15 May 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Gaucher Disease Type 1Studies 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
- Prospective
- Enrolment
- 40 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
- NCT04055831
- Sponsor's protocol ID
- 19-LDRTC-01
- Status last verified
- Aug 2019
- First submitted
- 12 Aug 2019
- Last updated
- 15 Aug 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Ivanova MM, Dao J, Kasaci N, Friedman A, Noll L, Goker-Alpan O. Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. Front Endocrinol (Lausanne). 2022 Nov 24;13:1029130. doi: 10.3389/fendo.2022.1029130. eCollection 2022.
PubMed 36506070
Study at a glance
From the registry record, last updated by the sponsor on 15 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
- ClinicalTrials.gov ID
- NCT04055831
- Acronym / sponsor ID
- 19-LDRTC-01
- Conditions
- Gaucher Disease Type 1
- Keywords
- Gaucher disease, Osteoporosis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.University, hospital or other
- Study start
- 15 May 2019 (actual)
- Primary completion
- 15 Apr 2020 (estimated)
- Study completion
- 15 May 2020 (estimated)
- First posted
- 14 Aug 2019 (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.
Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. However, the underlying cellular/molecular basis of bone involvement and related complications in GD are not fully known. Neither are there any bone-specific markers associated with individual bone pathology. Early diagnosis of bone disease is the key issue for planning individual therapy to prevent and reverse bone disease in GD.
Detailed description
This clinical observational study is designed to identify specific biomarkers for bone involvement in patients with GD1 with decreased bone density and/or bone structural abnormalities
Aims:
- Identify novel immune cell surface and biochemical markers in peripheral blood correlating with bone involvement in GD.
- Assess the correlation between cytokine levels in peripheral blood and the severity of bone involvement in GD.
- Assess the relationship between glycosphingolipids accumulation and macrophage activation with specific bone markers and GD severity.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| GD1 subjects with no bone complications | – | –1. GD1 subjects with no bone complications (n=10) |
| GD1 patients with mild bone complication | – | –2. GD1 subjects with mild bone complications |
| GD1 with severe bone complications | – | –3. GD1 subjects with severe bone complications |
| No bone disease | – | –Controls with no known bone disease (n=10) |
Who may qualify
- Ages
- 16 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Clinically confirmed GD1 patients will be stratified based on their disease severity and bone density findings.
Key inclusion criteria (7 listed)
- To be enrolled in this study the subject must meet the following criteria
Key exclusion criteria (1 listed)
- a) Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding
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
Measure biomarkers level in molar/l/h
Time frame: 18 months
Bone homeostasis is dependent on the balance of deposition by osteoblasts DMP-1, OSCAR, Calcitonin, Lyso-GB1, chitotriosidase, CCL18, osteocalcin, BALP, cathepsin K , TRAP 5, RANKL, OPG, DDK-1, sclerostin, MCP1, IL-2, IL-6, IL-10, SRTH2 and TNF-α
Measure biomarkers level: molar/mg/h
Time frame: 18 months
DMP-1, RANK, OSCAR, cathepsin K, OPG
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Aug 2019.
- Derived from this study: PubMed 36506070Ivanova MM, Dao J, Kasaci N, Friedman A, Noll L, Goker-Alpan O. Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease. Front Endocrinol (Lausanne). 2022 Nov 24;13:1029130. doi: 10.3389/fendo.2022.1029130. eCollection 2022.
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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 Type 1, 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 7 inclusion and 1 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 15 Aug 2019. 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 Jacqueline Fikry (571-732-4575, jfikry@ldrtc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measure biomarkers level in molar/l/h (time frame: 18 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?
On the ClinicalTrials.gov record for NCT04055831, which also lists 1 linked publication.
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 15 Aug 2019.