OSAKA, Japan & CAMBRIDGE, Mass. – VPRIV (velaglucerase alfa), an approved enzyme replacement therapy (ERT) for Gaucher disease, appears to be safe and effective in children under 4—a population not included in the clinical trials that supported its approval.
A recent U.S. real-world study evaluated VPRIV in a small group of infants and very young children with Gaucher disease. Beyond assessing the therapy’s safety and efficacy, the researchers aimed to gain insights into the clinical course of patients diagnosed and treated early in life.
The findings were encouraging. Most children who began VPRIV before age 4 experienced reductions in liver and spleen size and significant decreases in key disease biomarkers after six months of treatment. Blood counts and growth measures generally improved or remained stable, the study reported.
“These preliminary findings show that in infants and young children, VPRIV—administered primarily via home infusions—is well tolerated when started before age 4 and is associated with positive clinical outcomes,” the authors noted.
The study, titled “Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience,” was published in Frontiers in Pediatrics and sponsored by Takeda Pharmaceuticals, VPRIV’s developer.
Understanding Gaucher Disease and ERT
Gaucher disease results from mutations in the GBA1 gene, which lead to a missing or defective enzyme called glucocerebrosidase (GCase). Without functional GCase, certain fatty molecules accumulate in cells, causing symptoms such as enlarged organs, blood abnormalities, and bone issues.
ERT, the standard treatment for Gaucher disease, provides the body with functional GCase, helping restore the normal breakdown of these fatty substances.
VPRIV’s Approval and Limitations in Young Children
VPRIV has been approved since 2010 in the U.S., Canada, and the EU for adults and children with Gaucher disease type 1, the most common form of the disease, which does not involve neurological symptoms. It is also used off-label to treat nonneurological symptoms in type 2 and type 3 Gaucher disease, which do affect the nervous system.
However, pivotal clinical trials that led to VPRIV’s approval only included patients aged 4 and older, meaning the therapy is not officially indicated for younger children. Evidence in infants and toddlers has been limited—until now.
Real-World Study in Infants and Young Children
To fill this gap, U.S. researchers conducted a real-world study (NCT04721366) involving 11 children—six boys and five girls—who began VPRIV before age 4.
- Age at diagnosis: Average of 14 months, with four identified via newborn screening
- Disease type: Four showed signs suggestive of type 3 Gaucher, three consistent with type 2, and the remaining children had undetermined types
- Age at treatment initiation: Four started before 3 months, others between 3 months and 4 years
- Administration: Intravenous infusion weekly or every other week, mostly at home
- Treatment duration: 1–57 months, with seven children on therapy for at least 20 months
Key Findings
- Blood counts: Hemoglobin and platelet levels improved or remained stable
- Organ size: Liver size normalized in seven children; spleen size normalized in all but one
- Growth: Head circumference, height, and weight improved or remained stable
- Bone health: No Gaucher-related bone issues reported
- Biomarkers: Lyso-Gb1 and chitotriosidase levels markedly decreased
- Safety: No drug- or infusion-related side effects, even with long-term therapy
The researchers concluded, “Our study provides vital preliminary evidence on the effectiveness and safety of ERT with VPRIV in infants and children under 4 years old,” emphasizing the potential benefits of early intervention.
Media Contacts
Japanese Media
Yuko Yoneyama
[email protected]
U.S. and International Media
Takeda Media Relations
[email protected]