Maple syrup urine disease is a rare inherited metabolic disorder caused by deficiency of the branched-chain alpha-keto acid dehydrogenase complex, leading to toxic accumulation of branched-chain amino acids and their byproducts. Untreated disease can cause serious neurologic injury and life-threatening metabolic decompensation.
Belite Bio announced preliminary Q4 2025 results and plans to submit an NDA for tinlarebant in Q2 2026 following positive Phase 3 trial results. BioArctic reported record financial results with operating profit exceeding SEK 1.2 billion for 2025. Recordati delivered strong preliminary full-year 2025 results despite FX headwinds.
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.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT06664840 |
MyRareDiet A Novel Diet Tracking Tool |
NOT_YET_RECRUITING | NA |
| NCT06581991 |
Liquid Valine and Isoleucine in Maple Syrup Urine Disease |
NOT_YET_RECRUITING | NA |
| NCT05910151 |
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan |
UNKNOWN | |
| NCT05687474 |
Baby Detect : Genomic Newborn Screening |
COMPLETED | |
| NCT05051657 |
Evaluation of the Express Plus Range |
COMPLETED | NA |
| NCT04828863 |
Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD) |
COMPLETED | |
| NCT04602325 |
Systemic Biomarkers of Brain Injury From Hyperammonemia |
RECRUITING | |
| NCT04248062 |
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism |
COMPLETED | |
| NCT01529060 |
Phenylbutyrate Therapy for Maple Syrup Urine Disease |
COMPLETED | PHASE2/PHASE3 |
