Phenylketonuria is an inherited metabolic disorder caused by deficiency of phenylalanine hydroxylase activity, leading to toxic phenylalanine accumulation and risk of neurodevelopmental impairment if untreated.
BioMarin reported first-quarter 2026 revenue of $766 million and raised full-year guidance to $3.825 billion-$3.925 billion. The company highlighted FDA approval of PALYNZIQ for adolescents and upcoming Phase 3 readouts for BMN 401 and VOXZOGO.
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PTC Therapeutics has withdrawn its New Drug Application resubmission for ataluren (Translarna) for nonsense mutation Duchenne muscular dystrophy after the FDA indicated the submission lacked substantial evidence of effectiveness.
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| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07526909 |
Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises |
RECRUITING | NA |
| NCT07477691 |
Immune Modulation During Palynziq® Treatment in Adults (IMPALA) |
NOT_YET_RECRUITING | PHASE4 |
| NCT07241234 |
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria |
RECRUITING | PHASE1 |
| NCT06971731 |
A Study of JNT-517 in Participants With Phenylketonuria (PKU) |
RECRUITING | PHASE3 |
| NCT06941532 |
GMP Powdered Substitutes in PKU and TYR |
RECRUITING | NA |
| NCT06901323 |
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria |
ACTIVE_NOT_RECRUITING | PHASE4 |
| NCT06780332 |
Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq |
ACTIVE_NOT_RECRUITING | PHASE4 |
| NCT06302348 |
A Study of Sepiapterin in Participants With Phenylketonuria (PKU) |
RECRUITING | PHASE3 |
| NCT06289348 |
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience. |
NOT_YET_RECRUITING | |
| NCT06147856 |
A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria |
WITHDRAWN | PHASE1/PHASE2 |
