Gaucher DiseasePhase 2NCT06523517
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
A Phase 2 study testing Eliglustat Tartrate Capsules in people with Gaucher Disease, run by Peking Union Medical College Hospital at 1 site in China.
Trial summary
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3. Secondary Objective: Evaluate the quality of life in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3 treated with… Read more about this study
- Who is it for?
- Ages 12 to 18 years
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- Eliglustat Tartrate Capsules
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteChina
- Study dates
- 1 Aug 2024to 31 Jul 2025
- Phase
- Phase 2
- 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 12 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- The patient is ≥12 to <18 years old at the time of informed consent.
- The patient is diagnosed with Gaucher disease based on the following criteria:
- Glucocerebrosidase (GBA) activity reduced to ≤30% of the lower limit of normal, or
- GBA activity reduced by >30% of the lower limit of normal, but confirmed by glucocerebrosidase (GBA) genotype.
- Postmenarchal female patients must have a documented negative pregnancy test prior to enrollment and throughout the study.
- Patients must have been receiving enzyme replacement therapy (ERT) for a minimum of 24 months at a monthly dose equivalent to 30 U/kg to 130 U/kg of enzyme, with treatment ongoing at the time of enrollment. Patients must meet pre-specified treatment goals defined as:
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- Hemoglobin levels: ≥11.0 g/dL for females and ≥12.0 g/dL for males;
- Platelet count ≥100,000/mm³;
- Spleen volume <10.0 multiples of normal (MN);
- Liver volume <1.5 MN.
- After explaining and discussing all relevant aspects of the study with the patients and their guardians, patients and their guardians must voluntarily sign the written informed consent form approved by the institutional ethics committee.
- Cytochrome P450 2D6 (CYP2D6) genotype testing shows extensive metabolizers (EMs) or intermediate metabolizers (IMs).
- Patients agree to avoid consuming grapefruit and grapefruit juice.
- Patients agree to discontinue medications listed as contraindicated for concomitant use.
- Participants must be able to cooperate fully as determined by the Principal Investigator to be eligible for the study.
Who cannot join
- Underwent substrate reduction therapy (SRT) for GD or received miglustat treatment within 12 months prior to enrollment.
- Underwent partial or total splenectomy prior to enrollment or experienced active, clinically significant splenic infarction within the previous 12 months.
- The patient is transfusion-dependent; has a history of esophageal varices or liver infarction; elevated liver enzymes; significant congenital cardiac defect; coronary artery disease; left-sided heart failure; clinically significant arrhythmias; or conduction defects such as Type 2 second-degree or third-degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).
- Presence of significant comorbidities, as determined by the Principal Investigator, which may affect study data or confound study results (e.g., malignancies, primary biliary cirrhosis, autoimmune liver disease, pulmonary complications, cardiac structural or functional abnormalities, etc.).
- The patient with any clinically significant disease other than GD.
- Experienced severe bone disease such as new-onset bone crises or fractures within 12 months prior to enrollment.
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- The patient has received an investigational product within 30 days prior to enrollment.
- The patient has a known hereditary galactose intolerance, Lapp lactase deficiency, glucose galactose malabsorption, or is a CYP2D6 ultra-rapid metabolizer or indeterminate metabolizer.
- The patient is currently receiving erythropoiesis-stimulating agents (e.g., erythropoietin) or long-term systemic corticosteroid therapy, or received such treatment within 6 months prior to enrollment.
- Positive hepatitis B surface antigen (HBsAg) test results with detectable hepatitis B virus DNA load; positive hepatitis C virus (HCV) antibody with confirmation by HCV RNA polymerase chain reaction (PCR) testing; and positive human immunodeficiency virus (HIV) antibody at screening.
- Presence of non-GD-related hemolytic anemia (such as due to iron, folate, and/or vitamin B12 deficiency or infection/immune-mediated causes) at screening. Patients with folate deficiency, vitamin B12 deficiency-related anemia, or iron deficiency-related anemia at screening are ineligible for study enrollment and will be considered screening failures. Patients may receive treatment for underlying conditions and be re-screened at the discretion of the Principal Investigator.
- The patient and their guardian are unable to comprehend the nature, scope, and potential consequences of the study.
- The Principal Investigator determines that the patient is unsuitable for participation in the clinical trial based on the subject's overall condition.
Trial locations and contacts
1 site in 1 country.
China1 site
Peking union medical college hospital
Beijing
Bing Han
+86-010-69155760, hanbing_li@sina.com
About this study
Official title: A Single-center, Single-arm, Prospective Clinical Study to Evaluate the Efficacy and Safety of Eliglustat in Chinese Pediatric Patients (≥12 to <18 Years Old) With Gaucher Disease Type 1 and Type 3
Primary Objective:
Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
Secondary Objective:
Evaluate the quality of life in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3 treated with eliglustat.
- Conditions
- Gaucher Disease
- Being tested
- Eliglustat Tartrate Capsules
- Keywords
- Eliglustat
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Eliglustat Tartrate CapsulesDrug
The initial dose is 42 mg taken orally twice a day. After 2 weeks of treatment, if the blood trough concentration is less than 5 ng/mL, the dose will be increased to 84 mg taken orally twice daily.
| Study group | Role | What they receive |
|---|---|---|
| treatment group | Experimental | Eliglustat Tartrate Capsules, either 42 mg or 84 mg taken orally twice a day for 52 weeks. Receives: Drug: Eliglustat Tartrate Capsules |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in hemoglobin level
Absolute change from baseline for hemoglobin (g/dL)
Measured: Baseline, Weeks 13, 26, 39 and 52
Changes in platelet count
Percent change from baseline for platelet count
Measured: Baseline, Weeks 13, 26, 39 and 52
Changes in spleen volume
Percent change from baseline for spleen volume
Measured: Baseline, Weeks 26 and 52
Changes in liver volume
Percent change from baseline for liver volume
Measured: Baseline, Weeks 26 and 52
Changes in Lyso-GL1 level
Percent change from baseline for Lyso-GL1 level
Measured: Baseline, Weeks 13, 26, 39 and 52
Skeletal improvement
Proportion of patients with improvement in skeletal disease
Measured: Baseline, Weeks 26 and 52
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax
Peak concentration (Cmax) of eliglustat in plasma (ng/mL)
Measured: Baseline, Weeks 2, 13, 26 and 52
Assessment of pharmacokinetic (PK) parameter of eliglustat: Ctrough
Trough concentration (Ctrough) of eliglustat in plasma (ng/mL)
Measured: Baseline, Weeks 2, 13, 26 and 52
Adverse events
Number of adverse events in pediatric patients
Measured: Up to Week 52
Secondary outcomes (1)
Changes in Quality of Life
Health-related quality of life will be measured by the Pediatric Quality of Life Inventory™ (PedsQL™) questionnaires
Measured: Baseline and Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jul 2024
- Study start1 Aug 2024 (estimated)
- Primary completion31 Jul 2025 (estimated)
- Study completion31 Jul 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.
- More trials run by Peking Union Medical College HospitalThe 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking Union Medical College Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Bing Han, Peking Union Medical College Hospital
- Investigators
- Bing Han, Principal investigator, Peking Union Medical College
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06523517
- Sponsor's protocol ID
- Eliglustat
- Status last verified
- Jul 2024
- First submitted
- 18 Jul 2024
- Last updated
- 26 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Single-center, Single-arm, Prospective Clinical Study to Evaluate the Efficacy and Safety of Eliglustat in Chinese Pediatric Patients (≥12 to <18 Years Old) With Gaucher Disease Type 1 and Type 3
- ClinicalTrials.gov ID
- NCT06523517
- Acronym / sponsor ID
- Eliglustat
- Conditions
- Gaucher Disease
- Keywords
- Eliglustat
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- Peking Union Medical College HospitalUniversity, hospital or other
- Study start
- 1 Aug 2024 (estimated)
- Primary completion
- 31 Jul 2025 (estimated)
- Study completion
- 31 Jul 2025 (estimated)
- First posted
- 26 Jul 2024 (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.
Primary Objective:
Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
Secondary Objective:
Evaluate the quality of life in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3 treated with eliglustat.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| treatment group | Experimental | Drug: Eliglustat Tartrate CapsulesEliglustat Tartrate Capsules, either 42 mg or 84 mg taken orally twice a day for 52 weeks. |
Who may qualify
- Ages
- 12 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (15 listed)
- The patient is ≥12 to <18 years old at the time of informed consent.
- The patient is diagnosed with Gaucher disease based on the following criteria:
- Postmenarchal female patients must have a documented negative pregnancy test prior to enrollment and throughout the study.
- Patients must have been receiving enzyme replacement therapy (ERT) for a minimum of 24 months at a monthly dose equivalent to 30 U/kg to 130 U/kg of enzyme, with treatment ongoing at the time of enrollment. Patients must meet pre-specified treatment goals defined as:
- After explaining and discussing all relevant aspects of the study with the patients and their guardians, patients and their guardians must voluntarily sign the written informed consent form approved by the institutional ethics committee.
Key exclusion criteria (13 listed)
- Underwent substrate reduction therapy (SRT) for GD or received miglustat treatment within 12 months prior to enrollment.
- Underwent partial or total splenectomy prior to enrollment or experienced active, clinically significant splenic infarction within the previous 12 months.
- The patient is transfusion-dependent; has a history of esophageal varices or liver infarction; elevated liver enzymes; significant congenital cardiac defect; coronary artery disease; left-sided heart failure; clinically significant arrhythmias; or conduction defects such as Type 2 second-degree or third-degree atrioventricular (AV) block, complete bundle branch block, prolonged QTc interval, or sustained ventricular tachycardia (VT).
- Presence of significant comorbidities, as determined by the Principal Investigator, which may affect study data or confound study results (e.g., malignancies, primary biliary cirrhosis, autoimmune liver disease, pulmonary complications, cardiac structural or functional abnormalities, etc.).
- The patient with any clinically significant disease other than GD.
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 |
|---|---|---|
| Eliglustat Tartrate CapsulesThe initial dose is 42 mg taken orally twice a day. After 2 weeks of treatment, if the blood trough concentration is less than 5 ng/mL, the dose will be increased to 84 mg taken orally twice daily. | Drug | treatment group |
Primary outcome
Changes in hemoglobin level
Time frame: Baseline, Weeks 13, 26, 39 and 52
Absolute change from baseline for hemoglobin (g/dL)
Changes in platelet count
Time frame: Baseline, Weeks 13, 26, 39 and 52
Percent change from baseline for platelet count
Changes in spleen volume
Time frame: Baseline, Weeks 26 and 52
Percent change from baseline for spleen volume
Changes in liver volume
Time frame: Baseline, Weeks 26 and 52
Percent change from baseline for liver volume
Changes in Lyso-GL1 level
Time frame: Baseline, Weeks 13, 26, 39 and 52
Percent change from baseline for Lyso-GL1 level
Skeletal improvement
Time frame: Baseline, Weeks 26 and 52
Proportion of patients with improvement in skeletal disease
Assessment of pharmacokinetic (PK) parameter of eliglustat: Cmax
Time frame: Baseline, Weeks 2, 13, 26 and 52
Peak concentration (Cmax) of eliglustat in plasma (ng/mL)
Assessment of pharmacokinetic (PK) parameter of eliglustat: Ctrough
Time frame: Baseline, Weeks 2, 13, 26 and 52
Trough concentration (Ctrough) of eliglustat in plasma (ng/mL)
Adverse events
Time frame: Up to Week 52
Number of adverse events in pediatric patients
1 secondary outcome
Changes in Quality of Life
Time frame: Baseline and Week 52
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jul 2024.
- Individual participant dataSharing planned: No
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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.
Bing Han principal investigator
Peking Union Medical College
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Eliglustat Tartrate Capsules in people with Gaucher Disease, run by Peking Union Medical College Hospital at 1 site in China.
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 15 inclusion and 13 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 26 Jul 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 China. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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 Bing Han (+8613601059938, hanbing_li@sina.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes in hemoglobin level (time frame: Baseline, Weeks 13, 26, 39 and 52). The study lists 9 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 26 Jul 2024.