Full Press Release Details
New data also to be presented for PALYNZIQ ® (pegvaliaise-pqpz), reinforcing its value in sustaining blood Phe level reduction and improving health-related quality of life for adults with phenylketonuria
SAN RAFAEL, Calif. , March 20, 2025 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN ) today announced positive new data from studies of VOXZOGO ® (vosoritide) in children with achondroplasia and in ongoing clinical trials investigating other skeletal conditions, as well as PALYNZIQ ® (pegvaliase-pqpz) in adults with phenylketonuria (PKU). The latest findings further validate the long-term benefit and established safety profiles of both medicines, which continue to play a pivotal role for people living with these genetically defined conditions.
The data will be presented at the 2025 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Los Angeles .
Data Highlight VOXZOGO Treatment Adherence and Favorable Safety Profile in Infants
New data from a study in Japan showed strong treatment adherence with VOXZOGO in children with achondroplasia under the age of 3, with no reported treatment-related adverse events nor any dose interruptions among 63 children followed for up to 23.7 months. These real-world findings validate VOXZOGO's established safety profile and reinforce the therapeutic benefit seen in clinical studies. The study's safety results, including in infants as young as 1 month old, add to the growing body of evidence supporting early treatment initiation.
"VOXZOGO is the first and only approved treatment for children with achondroplasia, and it is encouraging to see favorable safety and strong adherence in very young children receiving the medicine in real-world clinical practice. As the effects of restricted growth are apparent from birth in children with achondroplasia, we expect that earlier treatment should translate to greater benefits," said Greg Friberg , M.D., executive vice president and chief research & development officer at BioMarin. "In addition to data in achondroplasia, scientific research at ACMG furthers our genetic understanding of skeletal conditions like hypochondroplasia, in which we hope to complete enrollment for our pivotal study with VOXZOGO in the first half of 2025."
PALYNZIQ Data Show Importance of Sustained Blood Phe Level Reduction and Improvement in Quality of Life in Adults with PKU
New data from the OPAL study, a post-marketing observational trial to assess the real-world safety and efficacy of PALYNZIQ, showed lowered blood Phe levels following treatment and positive health-related quality of life (HRQoL) outcomes. Mean blood Phe level was 1029 μmol/L at baseline (n=51) and lowered to 293 μmol/L at week 96 (n=16), representing a 67.8% reduction. Improvements in HRQoL were also observed, as measured by the PKU quality of life questionnaire (PKU-QOL) and the PKU Symptom Severity and Impacts Scale (PKU-SSIS), which use a scale of 1-100, with lower scores indicating better HRQoL. Mean change from baseline of -12.4 and -11.8 respectively were observed over the same time period.
Additionally, secondary data analyses from the Phase 3 PRISM clinical trial program demonstrated that sustaining lowered blood Phe levels with PALYNZIQ led to improvements in attention and mood. Most notably, scores for sustained Phe levels ≤120 were significantly better than those at sustained levels of ≤600 or ≤360, suggesting blood Phe in the normal range may provide additional benefit for adults living with PKU.
Real-world data from the Assessment of the Treatment and management LAndScape of PKU (ATLAS) study also highlighted a shift in the treatment landscape in part attributable to PALYNZIQ, with an increased proportion of people with PKU treated across 19 U.S. clinics achieving blood Phe levels ≤360 μmol/L and a reduction in the proportion of individuals with blood Phe levels >1200 μmol/L.
These findings demonstrate PALYNZIQ's efficacy in treating PKU, as the company works to advance this option for younger people living with the genetically defined condition, with results from a Phase 3 study in adolescents expected later this year.
Below are BioMarin's key presentations at ACMG, all listed in Pacific Time:
Interdisciplinary Variant Re-Classification: FGFR3 as an Example of Genotypic Investigation in Suspected Skeletal Dysplasia Population Poster #P213 Thursday, March 20 , 10:30 – 11:30 a.m.
How Helpful are Sleep Studies in Determining Surgical Need in Infants with Achondroplasia? Poster #P313 Thursday, March 20 , 10:30 – 11:30 a.m.
Beyond Boundaries: The Continuous Spectrum in FGFR3 -Related Conditions Poster #P373 Thursday, March 20 , 10:30 – 11:30 a.m.
Index of Sustained Phe Response and Improvements in PKU Clinical Outcome Assessments in Patients Receiving Pegvaliase Poster #P009 Thursday, March 20 , 10:30 – 11:30 a.m.
Initial Psychometric Evaluation of the Adult Symptom Severity and Impacts Scale (PKU-SSIS) Using Interim Data from the OPAL Study Poster #P029 Thursday, March 20 , 10:30 – 11:30 a.m.
The Assessment of the Treatment and Management Landscape of Phenylketonuria Survey Study: Findings from 19 Clinics in the United States Poster #P045 Thursday, March 20 , 10:30 – 11:30 a.m.
Safety Profile and Adherence of Vosoritide in Young Children with Achondroplasia in Japan Poster #P208 Friday, March 21 , 10:30 – 11:30 a.m.
Vosoritide as a Targeted Therapy for FGFR3 -Related Thanatophoric Dysplasia Poster #P354 Friday, March 21 , 10:30 – 11:30 a.m.
Improvements in Blood Phenylalanine and Health-Related Quality of Life Outcomes Among Adults with PKU Receiving Pegvaliase in the OPAL Study Poster #P002 Friday, March 21 , 10:30 – 11:30 a.m.
Occurrence of Anaphylaxis in Adult Incident Pegvaliase-Treated PKU Patients in a Post-Marketing Safety Analysis in the United States Poster #P046 Friday, March 21 , 10:30 – 11:30 a.m.
About Achondroplasia
Achondroplasia, the most common form of skeletal dysplasia leading to disproportionate short stature in humans, is characterized by slowing of endochondral ossification, which results in disproportionate short stature and disordered architecture in the long bones, spine, face and base of the skull. This condition is caused by a change in the FGFR3 gene, a negative regulator of bone growth.
More than 80% of children with achondroplasia have parents of average stature and have the condition as the result of a spontaneous gene mutation. The worldwide incidence rate of achondroplasia is about one in 25,000 live births. VOXZOGO is being tested in children whose growth plates are still "open," typically those under 18 years of age. Approximately 25% of people with achondroplasia fall into this category.
About Phenylketonuria
PKU, or phenylalanine hydroxylase (PAH) deficiency, is a genetic condition affecting approximately 70,000 people in the regions of the world where BioMarin operates. This enzyme is required for the metabolism of Phe, an essential amino acid found in most protein-containing foods. If functional enzyme is not present in sufficient quantities, Phe accumulates to abnormally high levels in the blood and becomes toxic to the brain, resulting in a variety of complications including severe intellectual disability, seizures, tremors, behavioral problems and psychiatric symptoms.
As a result of newborn screening efforts implemented in the 1960s and early 1970s, virtually all individuals with PKU born after this period in countries with newborn screening programs are diagnosed at birth and treatment is implemented soon after.
PKU can be managed with a severe Phe-restricted diet, which is supplemented by low-protein modified foods and Phe-free medical foods; however, it is difficult for most individuals to adhere to the lifelong strict diet to the extent needed to achieve adequate control of blood Phe levels. Dietary control of Phe in childhood can prevent major developmental neurological toxicities, but poor control of Phe in adolescence and adulthood is associated with a range of neurocognitive disabilities with significant functional impact.
In children with achondroplasia, endochondral bone growth, an essential process by which bone tissue is created, is negatively regulated due to a gain of function mutation in FGFR3 . VOXZOGO, a C-type natriuretic peptide (CNP) analog, acts as a positive regulator of the signaling pathway downstream of FGFR3 to promote endochondral bone growth.
VOXZOGO is approved in the U.S., Japan and Australia to increase linear growth in children of all ages with achondroplasia with open epiphyses, and VOXZOGO is indicated in the EU for the treatment of achondroplasia in children 4 months of age and older whose epiphyses are not closed, as confirmed by appropriate genetic testing. In the U.S., this indication is approved under accelerated approval based on an improvement in annualized growth velocity. Continued approval may be contingent upon verification and description of clinical benefit in confirmatory trial(s). To fulfill this post-marketing requirement, BioMarin intends to use the ongoing open-label extension studies compared to available natural history.
Patient Support Accessing VOXZOGO
To reach a BioMarin RareConnections ® Case Manager, please call, toll-free, 1-833-VOXZOGO (1-833-869-9646) or e-mail [email protected] . For more information about VOXZOGO, please visit www.voxzogo.com . For additional information regarding this product, please contact BioMarin Medical Information at [email protected] .
PALYNZIQ substitutes the deficient phenylalanine hydroxylase (PAH) enzyme in PKU with a PEGylated version of the enzyme phenylalanine ammonia lyase to break down Phe. PALYNZIQ is administered using a dosing regimen designed to facilitate tolerability; PALYNZIQ's safety profile consists primarily of immune-mediated responses, which can include anaphylaxis, for which robust risk management measures effective in clinical trials are in place.
PALYNZIQ is approved to reduce blood Phe concentrations for adults in the U.S., for people 16 and older in the EU, Canada and Brazil , and for people 15 and older in Japan to reduce blood Phe concentrations in individuals with PKU who have uncontrolled blood Phe concentrations greater than 600 micromol/L on existing management.
Patient Support Accessing PALYNZIQ
To reach a BioMarin RareConnections ® Case Manager, please call, toll-free, 1-866-906-6100 or e-mail [email protected] . For more information about PALYNZIQ, please visit www.palynziq.com . For additional information regarding this product, please contact BioMarin Medical Information at [email protected] .
VOXZOGO U.S. Important Safety Information
What is VOXZOGO used for?
What is the most important safety information about VOXZOGO?
What are the most common side effects of VOXZOGO?
How is VOXZOGO taken?
What should you tell the doctor before or during taking VOXZOGO?
You may report side effects to BioMarin at 1-866-906-6100. You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch , or call 1-800-FDA-1088.
Please see additional safety information in the full Prescribing Information and Patient Information .
PALYNZIQ U.S. Indication and Important Safety Information
PALYNZIQ ® (pegvaliase-pqpz) is a phenylalanine (Phe)-metabolizing enzyme indicated to reduce blood Phe levels in adult patients with phenylketonuria who have uncontrolled blood Phe levels greater than 600 micromol/L on existing management.
BOXED WARNING: RISK OF ANAPHYLAXIS
WARNINGS AND PRECAUTIONS
Other Hypersensitivity Reactions
ADVERSE REACTIONS
Blood Phenylalanine Monitoring and Diet
DRUG INTERACTIONS
Effect of PALYNZIQ on Other PEGylated Products
USE IN SPECIFIC POPULATIONS
Pregnancy and Lactation
You are encouraged to report suspected adverse reactions to BioMarin at 1-866-906-6100, or to FDA at 1-800-FDA-1088 or www.fda.gov/medwatch .
Please see accompanying full Prescribing Information , including Boxed Warning.
BioMarin is a global biotechnology company dedicated to translating the promise of genetic discovery into medicines that make a profound impact on the life of each patient. The San Rafael, California -based company, founded in 1997, has a proven track record of innovation with eight commercial therapies and a strong clinical and preclinical pipeline. Using a distinctive approach to drug discovery and development, BioMarin seeks to unleash the full potential of genetic science by pursuing category-defining medicines that offer new possibilities for people living with genetically defined conditions around the world. To learn more, please visit www.biomarin.com .
Forward-Looking Statements
BioMarin ® , BioMarin RareConnections ® , VOXZOGO ® and PALYNZIQ ® are registered trademarks of BioMarin Pharmaceutical Inc.
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