Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP)

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

NCT04910776 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet

NCT00272792 ·Status: COMPLETED ·Phase: PHASE3

A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms

NCT00701415 ·Status: COMPLETED ·Phase: PHASE3

A Long-Term Safety Study of PTC923 in Participants With Phenylketonuria

NCT05166161 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels

NCT00225615 ·Status: COMPLETED ·Phase: PHASE3

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease

NCT01597596 ·Status: TERMINATED ·Phase: PHASE4

Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)

NCT02750618 ·Status: COMPLETED ·Phase: PHASE2

Effective Dosing of Burosumab in XLH

NCT07183579 ·Status: RECRUITING

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

NCT07241234 ·Status: RECRUITING ·Phase: PHASE1

Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094

NCT02412787 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

Faslodex in McCune-Albright Syndrome

NCT00278915 ·Status: COMPLETED ·Phase: PHASE2

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

NCT02193867 ·Status: TERMINATED ·Phase: PHASE2

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

NCT03140813 ·Status: COMPLETED ·Phase: PHASE1

Treatment Frequency Reduction in Pompe Disease

NCT06575829 ·Status: NOT_YET_RECRUITING ·Phase: PHASE4

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

NCT00104247 ·Status: COMPLETED ·Phase: PHASE3

Evaluation of BH4 Responsiveness in Our PKU Patients

NCT07255599 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1

Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety

NCT00432822 ·Status: TERMINATED ·Phase: PHASE2/PHASE3

Clinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic Galactosemia

NCT04902781 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

NCT06147856 ·Status: WITHDRAWN ·Phase: PHASE1/PHASE2

Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia

NCT03167697 ·Status: COMPLETED ·Phase: NA

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

NCT02004704 ·Status: COMPLETED ·Phase: PHASE2

Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria

NCT00104260 ·Status: COMPLETED ·Phase: PHASE2

Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia

NCT04159103 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome

NCT01750957 ·Status: COMPLETED ·Phase: PHASE2

24-Week Study to Assess the PD, Safety, Tolerability, and PK of GLM101 in Participants With PMM2-CDG

NCT05549219 ·Status: COMPLETED ·Phase: PHASE2