Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With 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

Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency

NCT01371825 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

NCT04808505 ·Status: RECRUITING ·Phase: PHASE3

Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency

NCT02796937 ·Status: ENROLLING_BY_INVITATION ·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 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

A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome

NCT00420459 ·Status: COMPLETED ·Phase: PHASE2

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

NCT05166161 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome

NCT05035030 ·Status: RECRUITING ·Phase: PHASE3

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

Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease

NCT05047523 ·Status: TERMINATED ·Phase: PHASE3

Efficacy and Safety of ELGN-2112 on Intestinal Malabsorption in Preterm Infants

NCT05670951 ·Status: RECRUITING ·Phase: PHASE3

An Observational Study to Collect Data on How Aflibercept (Eylea) Given Using a Paediatric Dosing Device is Used in Preterm Babies With Retinopathy of Prematurity in the United Kingdom (UK)

NCT06315556 ·Status: RECRUITING

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

NCT00272792 ·Status: COMPLETED ·Phase: PHASE3

Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)

NCT01433354 ·Status: TERMINATED ·Phase: PHASE2/PHASE3

Faslodex in McCune-Albright Syndrome

NCT00278915 ·Status: COMPLETED ·Phase: PHASE2

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

NCT07241234 ·Status: RECRUITING ·Phase: PHASE1

A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease

NCT01422187 ·Status: COMPLETED ·Phase: PHASE3

Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment

NCT03687333 ·Status: COMPLETED ·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

An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

NCT05367960 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3

A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease

NCT01411228 ·Status: COMPLETED ·Phase: PHASE3

Suitability of Nitisinone in Alkaptonuria 2

NCT01916382 ·Status: UNKNOWN ·Phase: PHASE3

Study of Acamprosate in Fragile x Syndrome

NCT01911455 ·Status: COMPLETED ·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