| NCT06302348 | A Study of Sepiapterin in Participants With Phenylketonuria (PKU) | RECRUITING | PHASE3 | 2024-03-04 | 2031-02-28 | 2031-02-28 |
| NCT06254482 | An Extension Study to Evaluate the Long-Term Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD) | ENROLLING_BY_INVITATION | PHASE2 | 2023-08-25 | 2027-07-20 | 2027-06-30 |
| NCT05515536 | A Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich Ataxia | ACTIVE_NOT_RECRUITING | PHASE3 | 2022-12-08 | 2027-12-31 | 2027-12-31 |
| NCT05485987 | A Study of Vatiquinone for the Treatment of Participants With Friedreich Ataxia | COMPLETED | PHASE2 | 2022-10-12 | 2024-08-29 | 2024-08-29 |
| NCT05218655 | A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease | COMPLETED | PHASE3 | 2022-06-21 | 2025-04-15 | 2025-04-15 |
| NCT05269355 | A Study of Unesbulin in Participants With Advanced Leiomyosarcoma (LMS) | TERMINATED | PHASE2, PHASE3 | 2022-05-23 | 2024-07-17 | 2024-06-17 |
| NCT05349721 | Study to Assess the Effects of PTC857 Treatment in Participants With Amyotrophic Lateral Sclerosis ALS | TERMINATED | PHASE2 | 2022-05-15 | 2025-01-30 | 2024-09-26 |
| NCT05358717 | A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD) | ACTIVE_NOT_RECRUITING | PHASE2 | 2022-04-25 | 2025-08-15 | 2025-02-15 |
| NCT05166161 | A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria | RECRUITING | PHASE3 | 2022-02-14 | 2026-04-30 | 2026-04-30 |
| NCT04336826 | A Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) | COMPLETED | PHASE2 | 2021-12-29 | 2023-08-07 | 2023-08-07 |
| NCT05099640 | A Study of PTC923 in Participants With Phenylketonuria | COMPLETED | PHASE3 | 2021-09-30 | 2023-05-03 | 2023-04-03 |
| NCT04903288 | A Study of SmartFlow Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants | ACTIVE_NOT_RECRUITING | PHASE2 | 2021-05-12 | 2028-04-30 | 2023-05-22 |
| NCT04577352 | A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia | COMPLETED | PHASE2, PHASE3 | 2020-12-17 | 2023-10-02 | 2023-04-04 |
| NCT04378075 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | TERMINATED | PHASE2, PHASE3 | 2020-09-28 | 2023-12-27 | 2023-03-18 |
| NCT04439071 | A Study to Evaluate Efficacy and Safety of PTC299 (Emvododstat) in Hospitalized Participants With Coronavirus (COVID-19) | TERMINATED | PHASE2, PHASE3 | 2020-07-09 | 2022-07-20 | 2022-07-20 |
| NCT03783923 | A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) | TERMINATED | PHASE3 | 2019-10-31 | 2021-01-01 | 2021-01-01 |
| NCT03796637 | A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren | COMPLETED | PHASE2 | 2019-04-11 | 2019-06-03 | 2019-06-03 |
| NCT03761095 | A Study of Unesbulin (PTC596) in Combination With Dacarbazine in Participants With Advanced Leiomyosarcoma (LMS) | COMPLETED | PHASE1 | 2019-03-13 | 2024-02-05 | 2024-02-05 |
| NCT03712124 | A Study of CNSA-001 in Women With Diabetic Gastroparesis | COMPLETED | PHASE2 | 2019-02-27 | 2019-10-08 | 2019-09-08 |
| NCT03519711 | A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia | COMPLETED | PHASE1, PHASE2 | 2019-01-03 | 2020-10-02 | 2020-10-02 |
| NCT04117880 | A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia | WITHDRAWN | PHASE2 | 2018-12-31 | 2021-01-31 | 2021-01-31 |
| NCT03648827 | A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) | COMPLETED | PHASE2 | 2018-12-21 | 2020-10-23 | 2020-10-23 |
| NCT03642145 | A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD) | WITHDRAWN | PHASE3 | 2018-10-31 | 2021-07-31 | 2021-07-31 |
| NCT03761069 | Study of PTC299 (Emvododstat) in Relapsed/Refractory Acute Leukemias | TERMINATED | PHASE1 | 2018-10-29 | 2021-12-28 | 2021-12-28 |
| NCT03179631 | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy | COMPLETED | PHASE3 | 2017-07-06 | 2023-07-25 | 2022-03-05 |
| NCT02819557 | Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy | COMPLETED | PHASE2 | 2016-06-09 | 2018-02-09 | 2018-02-09 |
| NCT02647359 | Study of Ataluren in Participants With Nonsense Mutation Aniridia | COMPLETED | PHASE2 | 2016-01-31 | 2021-01-22 | 2021-01-22 |
| NCT02460679 | Safety and Biomarker Study of EPI-589 in Participants With Amyotrophic Lateral Sclerosis (ALS) | COMPLETED | PHASE2 | 2016-01-14 | 2018-02-23 | 2018-02-23 |
| NCT02404480 | PTC596 in Patients With Advanced Solid Tumors | COMPLETED | PHASE1 | 2016-01 | 2017-02-06 | 2017-02-06 |
| NCT02456103 | Extension Study of Ataluren in Participants With Nonsense Mutation Cystic Fibrosis | TERMINATED | PHASE3 | 2015-08-31 | 2017-06-02 | 2017-06-02 |
| NCT02485431 | Food Effect and Bioavailability of Deflazacort Formulations in Healthy Volunteers | COMPLETED | PHASE1 | 2015-06 | 2015-08 | 2015-08 |
| NCT02409004 | Effects of Rifampin on the Pharmacokinetics of Ataluren | COMPLETED | PHASE1 | 2015-02 | 2015-03 | 2015-03 |
| NCT02286609 | A Single Dose Evaluation of the Effects of Moderate Hepatic Impairment on Deflazacort Pharmacokinetics | COMPLETED | PHASE1 | 2014-12 | 2015-02 | 2015-02 |
| NCT02251600 | A Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy | COMPLETED | PHASE1 | 2014-12 | 2015-10 | 2015-10 |
| NCT02286622 | A Single Dose Evaluation of the Effects of Renal Impairment on Deflazacort Pharmacokinetics | COMPLETED | PHASE1 | 2014-12 | 2015-02 | 2015-02 |
| NCT02295748 | An Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability Deflazacort | COMPLETED | PHASE1 | 2014-12 | 2017-08-24 | 2017-08-24 |
| NCT02286635 | Evaluate Effects of Multiple Doses of Rifampin and Clarithromycin on the Single Dose Pharmacokinetics of Deflazacort | COMPLETED | PHASE1 | 2014-11 | 2014-12 | 2014-12 |
| NCT02139306 | Study of Ataluren in Nonsense Mutation Cystic Fibrosis (ACT CF) | COMPLETED | PHASE3 | 2014-08 | 2016-11 | 2016-11 |
| NCT02107859 | Study of Ataluren (PTC124) in Cystic Fibrosis | TERMINATED | PHASE3 | 2014-05-23 | 2017-06-05 | 2017-06-05 |
| NCT02090959 | An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy | TERMINATED | PHASE3 | 2014-03-20 | 2018-06-12 | 2018-06-12 |
| NCT02352896 | Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome | COMPLETED | PHASE2 | 2014-01-31 | 2023-10-30 | 2023-10-30 |
| NCT01826487 | Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) | COMPLETED | PHASE3 | 2013-03-26 | 2015-08-20 | 2015-08-20 |
| NCT01728064 | Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia | COMPLETED | PHASE2 | 2012-12-31 | 2016-02-29 | 2015-10-31 |
| NCT01721733 | Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome | COMPLETED | PHASE2 | 2012-10-31 | 2015-05-31 | 2015-02-28 |
| NCT01557400 | Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada | COMPLETED | PHASE3 | 2012-05-20 | 2018-01-19 | 2018-01-19 |
| NCT01247207 | Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) | ENROLLING_BY_INVITATION | PHASE3 | 2010-11-30 | 2025-04-30 | 2025-04-30 |
| NCT01140451 | Extension Study of Ataluren (PTC124) in Cystic Fibrosis | COMPLETED | PHASE3 | 2010-08-12 | 2013-12-02 | 2013-12-02 |
| NCT01141075 | Ataluren for Nonsense Mutation Methylmalonic Acidemia | TERMINATED | PHASE2 | 2010-07-19 | 2011-11-03 | 2011-11-03 |
| NCT01009294 | Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD) | TERMINATED | PHASE2 | 2010-01-13 | 2010-03-23 | 2010-03-23 |
| NCT00947193 | Study of Ataluren (PTC124) in Hemophilia A and B | TERMINATED | PHASE2 | 2009-10-14 | 2011-08-30 | 2011-08-30 |
| NCT00803205 | Study of Ataluren (PTC124â„¢) in Cystic Fibrosis | COMPLETED | PHASE3 | 2009-09-08 | 2011-11-12 | 2011-11-12 |
| NCT00911248 | PTC299 for Treatment of Neurofibromatosis Type 2 | TERMINATED | PHASE2 | 2009-07-31 | 2012-03-31 | 2012-03-31 |
| NCT00847379 | Phase 2B Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) | TERMINATED | PHASE2 | 2009-01-31 | 2010-05-24 | 2010-05-24 |
| NCT00759876 | Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD) | TERMINATED | PHASE2 | 2008-08-13 | 2010-05-17 | 2010-05-17 |
| NCT00704821 | PTC299 for Treatment of Advanced Cancer | TERMINATED | PHASE1 | 2008-07-03 | 2012-02-24 | 2012-02-24 |
| NCT00592553 | Phase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) | COMPLETED | PHASE2 | 2008-02-29 | 2009-12-31 | 2009-12-31 |
| NCT00508586 | PTC299 and Hormonal Agent for Treatment of Metastatic Breast Cancer | COMPLETED | PHASE1 | 2007-11 | 2012-03 | 2012-03 |
| NCT00458341 | A Study of Ataluren in Pediatric Participants With Cystic Fibrosis | COMPLETED | PHASE2 | 2007-03-23 | 2008-02-29 | 2008-02-29 |
| NCT00351078 | PTC124 for the Treatment of Cystic Fibrosis | COMPLETED | PHASE2 | 2006-12 | 2007-07 | 2007-07 |
| NCT00264888 | Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy | COMPLETED | PHASE2 | 2005-12 | 2007-05 | 2007-05 |
| NCT00237380 | Safety and Efficacy of Ataluren (PTC124) for Cystic Fibrosis | COMPLETED | PHASE2 | 2005-11-30 | 2006-05-31 | 2006-05-31 |
| NCT00234663 | PTC124 for Cystic Fibrosis | COMPLETED | PHASE2 | 2005-09 | 2006-08 | 2006-08 |