TPN-101 in Aicardi-Goutières Syndrome (AGS)

Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy

NCT02858908 ·Status: COMPLETED ·Phase: PHASE2

Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I

NCT03071341 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181

NCT02597114 ·Status: COMPLETED ·Phase: PHASE1

Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease

NCT01230801 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome

NCT02262338 ·Status: COMPLETED ·Phase: PHASE1

Gene Therapy for Severe Crigler Najjar Syndrome

NCT03466463 ·Status: RECRUITING ·Phase: NA

Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

NCT06549218 ·Status: RECRUITING ·Phase: NA

Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension

NCT02531217 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Study of STG-001 in Subjects With Stargardt Disease

NCT04489511 ·Status: COMPLETED ·Phase: PHASE2

Long Term Follow-Up for Safety of AVR-RD-02

NCT06488261 ·Status: ACTIVE_NOT_RECRUITING

A Screening Study Evaluating Disease Status of Gaucher Type I Patients

NCT00795197 ·Status: WITHDRAWN

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

NCT04159103 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I

NCT02371226 ·Status: COMPLETED ·Phase: PHASE1

Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation

NCT06706388 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE1/PHASE2

A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)

NCT05371613 ·Status: RECRUITING ·Phase: PHASE2/PHASE3

A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101

NCT00875160 ·Status: TERMINATED ·Phase: PHASE1

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

NCT00515398 ·Status: COMPLETED

Patisiran-Lipid Nanoparticle (LNP) Pregnancy Surveillance Program

NCT05040373 ·Status: RECRUITING

Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy

NCT02603562 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome

NCT05358886 ·Status: COMPLETED ·Phase: PHASE3

A Long-term, 3-Year, Follow-up Study for Patients Completing the KS-GIG-001-01 Study

NCT05613569 ·Status: ACTIVE_NOT_RECRUITING

Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I

NCT03053089 ·Status: COMPLETED ·Phase: PHASE1/PHASE2

Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug

NCT06391736 ·Status: RECRUITING ·Phase: PHASE1/PHASE2

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

NCT02796937 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE3

A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients

NCT00813865 ·Status: COMPLETED ·Phase: PHASE2