Prevalence of DAO (diamino Oxidase) Deficiency in Newborns

The Natural History of Danon Disease

NCT03766386 ·Status: UNKNOWN

The Prevalence of RYR1-related Disease

NCT06791369 ·Status: NOT_YET_RECRUITING

Real World Evidence Study of Danish Fabry Patients

NCT06303466 ·Status: ACTIVE_NOT_RECRUITING

PREPL in Health and Disease

NCT02263781 ·Status: ACTIVE_NOT_RECRUITING ·Phase: NA

Molecular Signatures of Esophageal Atresia

NCT06073158 ·Status: COMPLETED ·Phase: NA

Biomarkers Related to Bone in Pediatric Gaucher Disease

NCT06116071 ·Status: RECRUITING

Phosphoproteomic Profile of Children With Down Syndrome

NCT06279208 ·Status: COMPLETED

Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease

NCT04909346 ·Status: TERMINATED

A Screening Study Evaluating Disease Status of Gaucher Type I Patients

NCT00795197 ·Status: WITHDRAWN

Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB

NCT02293408 ·Status: TERMINATED

Antioxidant Signature in Adult Patients With Phenylketonuria

NCT02212288 ·Status: COMPLETED

Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

NCT01136304 ·Status: COMPLETED

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

NCT01358370 ·Status: COMPLETED

Study of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A

NCT02629393 ·Status: COMPLETED ·Phase: PHASE2/PHASE3

The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II

NCT03139903 ·Status: COMPLETED

SNAP: Study Nutrients in Adult PKU

NCT03858101 ·Status: COMPLETED

Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease

NCT02437396 ·Status: RECRUITING

Inactive FSH in Galactosemia

NCT00619333 ·Status: UNKNOWN ·Phase: NA

Natural History of Netherton Syndrome

NCT05902663 ·Status: TERMINATED

Open-Label Extension Study to Assess GLM101 in PMM2-CDG Patients

NCT06657859 ·Status: ENROLLING_BY_INVITATION ·Phase: PHASE2

Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes

NCT01907555 ·Status: COMPLETED

Natural History of the Progression of X-Linked Retinitis Pigmentosa

NCT04926129 ·Status: COMPLETED

PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency

NCT06302439 ·Status: RECRUITING

PCD New Gene Discovery

NCT03801395 ·Status: COMPLETED

Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)

NCT03984149 ·Status: UNKNOWN