Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

NCT02193867 ·Status: TERMINATED ·Phase: PHASE2

A Study to Identify and Characterize LAL-D Patients in High-risk Populations

NCT02345421 ·Status: TERMINATED

Effective Dosing of Burosumab in XLH

NCT07183579 ·Status: RECRUITING

An Efficacy and Safety Study of Palovarotene for the Treatment of MO

NCT03442985 ·Status: TERMINATED ·Phase: PHASE2

Oral Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency

NCT04706013 ·Status: RECRUITING ·Phase: PHASE3

Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)

NCT05200104 ·Status: WITHDRAWN ·Phase: PHASE2

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia

NCT04712812 ·Status: RECRUITING

China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD

NCT06666413 ·Status: RECRUITING ·Phase: PHASE4

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

NCT04910776 ·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

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

NCT05549219 ·Status: COMPLETED ·Phase: PHASE2

A Global Prospective Observational Registry of Patients With Pompe Disease

NCT06121011 ·Status: RECRUITING

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

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

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

NCT00104247 ·Status: COMPLETED ·Phase: PHASE3

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

NCT01358370 ·Status: COMPLETED

Suitability of Nitisinone in Alkaptonuria 2

NCT01916382 ·Status: UNKNOWN ·Phase: PHASE3

Study of Acamprosate in Fragile x Syndrome

NCT01911455 ·Status: COMPLETED ·Phase: PHASE1

Late-Onset Treatment Study Extension Protocol

NCT00455195 ·Status: COMPLETED ·Phase: PHASE4

In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) Subjects

NCT02521792 ·Status: TERMINATED ·Phase: PHASE2

Evaluating the Neurophysiologic and Clinical Effects of Single Dose Drug Challenge

NCT05418049 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE2

A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients.

NCT03231878 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

Patient-Reported Outcomes in PHiladelphia-nEgative Cytogenetic mYeloproliferative Neoplasms (PROPHECY).

NCT04378855 ·Status: ACTIVE_NOT_RECRUITING

Comprehensive Assessment of Reactions to Pharmacogenetics in Complex Care Patients

NCT07060300 ·Status: ENROLLING_BY_INVITATION ·Phase: NA

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