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 Q2 2026 revenues of $990 million, up 20% Y/Y, and raised guidance. It filed an sNDA for VOXZOGO in hypochondroplasia and advanced BMN 333, BMN 820, and BMN 351.
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.
International Rare Disease Day on February 28 underscores challenges in diagnosing and treating rare genetic conditions, with patients facing years-long diagnostic delays and geographic barriers to accessing gene therapies.
PTC Therapeutics has withdrawn its New Drug Application resubmission for ataluren (Translarna) for nonsense mutation Duchenne muscular dystrophy after the FDA indicated the submission lacked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.
PTC Therapeutics has withdrawn its New Drug Application for Translarna (ataluren) for Duchenne muscular dystrophy after the FDA indicated the data were unlikely to meet approval thresholds, ending a pursuit spanning more than a decade.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07728032 |
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU |
RECRUITING | |
| NCT07713758 |
A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function |
RECRUITING | PHASE1 |
| NCT07698743 |
Eating Disorders in Patients With Phenylketonuria |
RECRUITING | |
| NCT07685210 |
GenSci144 Tablets Phase I Clinical Trial |
RECRUITING | PHASE1 |
| 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) |
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 |
