A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease (PEDS)

Gaucher Disease During Infancy and Early Childhood and Experience With Enzyme Replacement Therapy (ERT) Using Velaglucerase Alfa (VPRIV): A Combined Retrospective and Prospective Cohort Study

The main aim of this study is to learn if velaglucerase alfa (VPRIV) improves growth and symptoms in participants up to 5 years of age with Gaucher disease. Symptoms will be checked with blood tests.

This study is about collecting data available in the participant's medical record as well as data from each participant's ongoing treatment. No study medicines will be provided to participants in this study. The study sponsor will not be involved in how participants are treated but will provide instructions on how the clinics will record what happens during the study.

When the participants start the study, they will visit the study clinic every 6 months after their first visit.

Study Overview

• Status: Completed
• Conditions: Gaucher Disease
• Intervention / Treatment: Other: Standard of Care

• Study Type: Observational
• Enrollment (Actual): 11

Contacts and Locations

Study Locations

• United States
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Lysosomal & Rare Disorders Research & Treatment Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 5 years (Child)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Neonatal and pediatric participants included have a diagnosis of GD type I and III and are currently being treated with total ERT (VPRIV) for less than or equal to (<=) 36 months from the time of treatment initiation.

Description

Inclusion Criteria:

• The participant's caregiver is able and willing to provide informed consent.
• The participant is male or female younger than or equal to 4 years of age at treatment initiation.
• The participant has received and confirmed a current diagnosis of GD type 1 or type 3 (biochemically and/or genetically).
• The participant has been receiving intravenous (IV) Velaglucerase alfa treatment for GD.
• In the opinion of the investigator, the participant's caregiver is capable of understanding and complying with protocol requirements.
• The participant'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.

Exclusion Criteria:

• The 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., child, sibling) or may consent under duress.
• The participant is judged by the investigator as being ineligible for any other reason.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Standard of Care (SoC); Neonatal and pediatric participants who has been on ERT (VPRIV) will be followed up for 36 months from the time of treatment initiation as per SOC.	Other: Standard of Care; Neonatal and pediatric participants who has been on ERT (VPRIV) will be assessed as per SOC.; Other Names: SOC

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change From Baseline in Hemoglobin (Hb) Level	Increase hemoglobin levels up to 11.0 gram per deciliter (g/dL) will be assessed.	From start of ERT initiation up to 5 years of age
Percent Change From Baseline in Platelet Count Increase	Percent change from baseline for platelet count increase will be assessed.	From start of ERT initiation up to 5 years of age
Percent Change From Baseline in Liver Volume	Percent change from baseline in liver volume will be assessed.	From start of ERT initiation up to 5 years of age
Percent Change From Baseline for Spleen Volume	Percent change from baseline for spleen volume will be assessed.	From start of ERT initiation up to 5 years of age
Percentage of Participants With Growth Normalization	Percentage of participants with growth normalization will be assessed.	From start of ERT initiation up to 5 years of age
Percentage of Participants With Improvement in Bone Disease	Percentage of participants with improvement in bone disease will be assessed.	From start of ERT initiation up to 5 years of age
Percentage of Participants With Improvement in Thrombocytopenia	Percentage of participants with improvement in thrombocytopenia will be assessed.	From start of ERT initiation up to 5 years of age

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)	An adverse event (AE) is any untoward medical occurrence in a participant administered a medicinal product and which does not necessarily have to have a causal relationship with this treatment. An SAE is any event that results in: death; life-threatening; requires inpatient hospitalization or results in prolongation of existing hospitalization; persistent or significant disability/incapacity; a congenital anomaly/birth defect or a medically important event. AEs include SAEs, non-serious AEs.	From start of ERT initiation up to 5 years of age

Collaborators and Investigators

• Sponsor: Takeda
• Investigators: Study Director: Study Director, Takeda

Publications and helpful links

Helpful Links

• To obtain more information on the study, click here/on this link

Study record dates

Study Major Dates

• Study Start (Actual): January 8, 2021
• Primary Completion (Actual): April 17, 2023
• Study Completion (Actual): April 17, 2023

Study Registration Dates

• First Submitted: January 21, 2021
• First Submitted That Met QC Criteria: January 21, 2021
• First Posted (Actual): January 22, 2021

Study Record Updates

• Last Update Posted (Actual): March 29, 2024
• Last Update Submitted That Met QC Criteria: March 28, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: MACS-2020-052801; TAK-669-4019 (Other Identifier: Takeda)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: De-identified individual participant data from this particular study will not be shared as there is a reasonable likelihood that individual patients could be re-identified (due to the limited number of study participants).
• IPD Sharing Access Criteria: IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on https://vivli.org/ourmember/takeda/. For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No