Gaucher Disease
Conditions
Brief summary
The study will provide information on outcomes in people with type 1 Gaucher disease when they are treated with velaglucarase alfa (also called VPRIV), under standard care. Standard care means the participant will be treated according to the clinic's standard practice. The study sponsor will not be involved in how participants are treated with VPRIV, will provide instructions on how the clinic will record what happens during the study. VPRIV is a type of enzyme replacement therapy (also known as ERT). Before starting the study, participants must either have switched from substrate reduction therapies (SRT) to VPRIV or switched from other enzyme replacement therapies to SRT then finally to VPRIV. During this time, medical data will be collected from the participants' medical records. During the study, participants will be treated with VPRIV according to their clinic's standard practice. VPRIV is given by a slow injection into the vein, also known as an infusion. This will happen in the clinic or at home. The study will record if blood levels of specific substances remain stable or improve during the switch to treatment with VPRIV. Some of these substances will show if organs such as the liver or spleen are working well. Others are blood cells that help blood to clot, known as platelets. Another is a substance in a red blood cell used to carry oxygen around the body, known as hemoglobin. Participants will use a digital tool so they can be more involved in decision making in their treatment. The digital tool is a mobile phone app, in which each participant can log their daily activities, their general health and wellbeing, and other key information. Medical data will also be collected from the participants' charts during this time. Health problems of the participants will be recorded during the study to check if there were any side effects from VPRIV treatment. Participants will be in this study for up to 12 months.
Interventions
OTHERDigital Engagement Application (GD App)
This is a chart review (prospective) data analysis study to describe the effect of the treatment change on the clinical parameters and patient reported outcomes (PROs) with the use of a digital engagement application (GD app) (to evaluate participants clinical engagement, shared decision making, emotional wellbeing, activities of daily living, goal attainment and Gaucher Disease specific measures).
OTHERNo Intervention
This is a chart review (retrospective) data analysis study to describe the effect of the treatment change on the clinical parameters.
Sponsors
Takeda
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Participant eligibility is determined according to the following criteria prior to entry into the study: * In the opinion of the investigator, the participant is capable of understanding and complying with protocol requirements. * Participant either signs and dates a written, informed consent form or completes an e-consent process prior to the initiation of any study procedures. * Participant has been diagnosed with GD type I; diagnosis was confirmed biochemically and/or genetically. * Participant has been treated with SRT for at least 3 months prior to switch to VPRIV. * Participant has been treated with VPRIV at least 3 months prior to enrollment (Baseline \[Day 0\]). * Participant is aged 18 or older. * Arm A: Participant is able to use mobile application based on clinician's judgment, (e.g., owns an iPhone version 5 or later or smartphones with Android operating systems, have an active data plan or regular Wi-Fi access). * Arm A: The participant's primary language is English.
Exclusion criteria
Any participant who meets any of the following criteria will not qualify for entry into the study: * Participant is an immediate family member, study site employee, or is in a dependent relationship with a study site employee who is involved in conduct of this study (e.g., spouse, parent, child, sibling) or may consent under duress. * Participant is judged by the investigator as being ineligible for any other reason. * Participant has L444P/L444P GBA1 genotype (c.1448T greater than \[\>\] C). * Participant has Parkinson's disease, a history of central nervous system \[CNS\] manifestations, or any other neurological disorder (e.g. Lewy Body Disease, Alzheimer's Disease, Amyotrophic Lateral Sclerosis, Multiple sclerosis).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants With Clinically Stable Hemoglobin (Hb) Concentration From Baseline up to Month 12 | From Baseline up to Month 12 | Hemoglobin concentration level was assessed from the blood sample. Clinical stability from baseline was calculated using prespecified threshold of hemoglobin concentration level less than (\<) 1.5 gram per deciliter (g/dl) decrease level. Number of participants with clinically stable hemoglobin from baseline up to Month 12 were reported. |
| Number of Participants With Clinically Stable Platelet Count From Baseline in Platelet Count up to Month 12 | From Baseline up to Month 12 | Platelet count concentration level was assessed from the blood sample. Clinical stability from baseline was calculated using prespecified threshold of platelet count \< 25 percent (%) decrease levels. Number of participants with clinically stable platelet count from baseline up to Month 12 were reported. |
| Number of Participants With Clinically Stable Liver Volume From Baseline up to Month 12 | From Baseline up to Month 12 | Clinical stability from baseline was calculated using prespecified threshold of liver volume \< 20 % increase, was assessed using ultrasound or Magnetic Resonance Image (MRI). Number of participants with clinically stable liver volume from baseline up to Month 12 were reported. |
| Number of Participants With Clinically Stable Spleen Volume From Baseline up to Month 12 | From Baseline up to Month 12 | Clinical stability from baseline was calculated using prespecified threshold of spleen volume \< 25 % increase was assessed using ultrasound or MRI. Number of participants with clinically stable spleen volume from baseline up to Month 12 were reported. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs) | From start of the study up to Month 12 | An AE was defined as any untoward medical occurrence in a clinical investigation participant administered with a drug; it does not necessarily have to have a causal relationship with the treatment. An SAE was any event that resulted in: death; was life-threatening; required inpatient hospitalization or resulted in prolongation of existing hospitalization; persistent or significant disability/incapacity; was a congenital anomaly/birth defect or a medically important event. AEs included both SAEs, and non-serious AEs. |
Countries
United States
Participant flow
Recruitment details
The study was conducted at 3 sites in United States from 22 April 2021 to 16 February 2023.
Pre-assignment details
A total of 4 participants were enrolled in the study. This is an interventional, retrospective and prospective study to describe the effect of the treatment change on the clinical parameters and patient reported outcomes (PROs) with the use of a digital engagement application.
Participants by arm
| Arm | Count |
|---|---|
| All GD1 Participants All participants with GD1 who were treated with SRT for at least 3 months before being switched to ERT (VPRIV) were followed-up prospectively for 12 months from the switch from SRT to ERT (baseline); and participants transitioning from SRT to ERT (VPRIV) or ERT to SRT and then to ERT (VPRIV) previously (within the past 5 years at the time of enrollment) were followed-up retrospectively for up to 12 months before being switched from SRT to ERT (VPRIV). All participants were treated in accordance with physician treatment plan (standard clinical practice). | 4 |
| Total | 4 |
Baseline characteristics
| Characteristic | All GD1 Participants |
|---|---|
| Age, Continuous | 45.8 Years STANDARD_DEVIATION 22.5 |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants |
| Race (NIH/OMB) White | 4 Participants |
| Sex: Female, Male Female | 3 Participants |
| Sex: Female, Male Male | 1 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | 0 / 2 | 0 / 2 |
| other Total, other adverse events | 0 / 2 | 0 / 2 |
| serious Total, serious adverse events | 0 / 2 | 0 / 2 |
Outcome results
Primary
Number of Participants With Clinically Stable Hemoglobin (Hb) Concentration From Baseline up to Month 12
Hemoglobin concentration level was assessed from the blood sample. Clinical stability from baseline was calculated using prespecified threshold of hemoglobin concentration level less than (\<) 1.5 gram per deciliter (g/dl) decrease level. Number of participants with clinically stable hemoglobin from baseline up to Month 12 were reported.
Time frame: From Baseline up to Month 12
Population: Analysis population included all eligible participants whose medical charts were retrieved and observed in this study.
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| Arm A: Prospective | Number of Participants With Clinically Stable Hemoglobin (Hb) Concentration From Baseline up to Month 12 | 2 Participants |
| Arm B: Retrospective | Number of Participants With Clinically Stable Hemoglobin (Hb) Concentration From Baseline up to Month 12 | 2 Participants |
Primary
Number of Participants With Clinically Stable Liver Volume From Baseline up to Month 12
Clinical stability from baseline was calculated using prespecified threshold of liver volume \< 20 % increase, was assessed using ultrasound or Magnetic Resonance Image (MRI). Number of participants with clinically stable liver volume from baseline up to Month 12 were reported.
Time frame: From Baseline up to Month 12
Population: Data for this outcome measure could not be collected and analyzed as no participants were evaluable for the specified parameter.
Primary
Number of Participants With Clinically Stable Platelet Count From Baseline in Platelet Count up to Month 12
Platelet count concentration level was assessed from the blood sample. Clinical stability from baseline was calculated using prespecified threshold of platelet count \< 25 percent (%) decrease levels. Number of participants with clinically stable platelet count from baseline up to Month 12 were reported.
Time frame: From Baseline up to Month 12
Population: Analysis population included all eligible participants whose medical charts were retrieved and observed in this study.
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| Arm A: Prospective | Number of Participants With Clinically Stable Platelet Count From Baseline in Platelet Count up to Month 12 | 2 Participants |
| Arm B: Retrospective | Number of Participants With Clinically Stable Platelet Count From Baseline in Platelet Count up to Month 12 | 2 Participants |
Primary
Number of Participants With Clinically Stable Spleen Volume From Baseline up to Month 12
Clinical stability from baseline was calculated using prespecified threshold of spleen volume \< 25 % increase was assessed using ultrasound or MRI. Number of participants with clinically stable spleen volume from baseline up to Month 12 were reported.
Time frame: From Baseline up to Month 12
Population: Data for this outcome measure could not be collected and analyzed as no participants were evaluable for the specified parameter.
Secondary
Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)
An AE was defined as any untoward medical occurrence in a clinical investigation participant administered with a drug; it does not necessarily have to have a causal relationship with the treatment. An SAE was any event that resulted in: death; was life-threatening; required inpatient hospitalization or resulted in prolongation of existing hospitalization; persistent or significant disability/incapacity; was a congenital anomaly/birth defect or a medically important event. AEs included both SAEs, and non-serious AEs.
Time frame: From start of the study up to Month 12
Population: Analysis population included all eligible participants whose medical charts were retrieved and observed in this study.
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Arm A: Prospective | Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs) | Participants with AEs | 0 Participants |
| Arm A: Prospective | Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs) | Participants with Serious AEs | 0 Participants |
| Arm B: Retrospective | Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs) | Participants with AEs | 0 Participants |
| Arm B: Retrospective | Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs) | Participants with Serious AEs | 0 Participants |