Not applicableStudy completedNCT04255680What this trial is testingAssess Variation in Potential Biomarkers in Friedreich AtaxiaWho this might be right forFriedreich Ataxia Larimar Therapeutics, Inc. 20
Not applicableLooking for participantsNCT06305234What this trial is testingA Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)Who this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 200
Post-approval studies (Phase 4)UnknownNCT02525172What this trial is testingImmune Modulation Therapy for Pompe DiseaseWho this might be right forPompe Disease National Taiwan University Hospital 8
Not applicableStudy completedNCT03721367What this trial is testingChronic Liver Disease in Urea Cycle DisordersWho this might be right forUrea Cycle Disorder Baylor College of Medicine 28
Post-approval studies (Phase 4)Study completedNCT01831934What this trial is testingResponses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)Who this might be right forMELAS Syndrome Stanford University 22
Post-approval studies (Phase 4)Study completedNCT01997489What this trial is testingOphthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.Who this might be right forFabry Disease Rigshospitalet, Denmark 39
Testing effectiveness (Phase 2)Study completedNCT01303380What this trial is testingCanakinumab in Patients With Active Hyper-IgD SyndromeWho this might be right forMevalonate Kinase Deficiency Novartis Pharmaceuticals 9
Post-approval studies (Phase 4)Study completedNCT00028262What this trial is testingCystagon to Treat Infantile Neuronal Ceroid LipofuscinosisWho this might be right forInfantile Neronal Ceroid Lipofuscinosis Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 10
Not applicableWithdrawnNCT02385162What this trial is testingBiomarker for Glycogen Storage Diseases (BioGlycogen)Who this might be right forFructose Metabolism, Inborn ErrorsGlycogen Storage DiseaseGlycogen Storage Disease Type I+7 more CENTOGENE GmbH Rostock
Large-scale testing (Phase 3)UnknownNCT01824030What this trial is testingFFR or OCT Guidance to RevasculariZe Intermediate Coronary Stenosis Using AngioplastyWho this might be right forIschemic Heart Disease Catholic University of the Sacred Heart 400
Not applicableLooking for participantsNCT03190837What this trial is testingA Long-term Follow-up Study of Gaucher DiseaseWho this might be right forGaucher Disease Duke University 200
Not applicableStudy completedNCT00005111What this trial is testingPET Scans in Normal Volunteers and Patients With Fabry DiseaseWho this might be right forFabry DiseaseHealthy National Institute of Neurological Disorders and Stroke (NINDS) 24
Not applicableStudy completedNCT04708301What this trial is testingCharacterisation of Heart Involvement in Fabry Disease With T1 MappingWho this might be right forFabry Disease Manchester University NHS Foundation Trust 200
Not applicableUnknownNCT04476550What this trial is testingClinical Specimen Collection From Pompe Disease PatientsWho this might be right forPompe Disease Serhat Gumrukcu, MD PhD 12
Not applicableUnknownNCT05272969What this trial is testingPompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe DiseaseWho this might be right forPompe Disease (Late-onset)Inclusion Body MyositisSpinal Muscular Atrophy Type 3+1 more LMU Klinikum 95
Not applicableLooking for participantsNCT04157179What this trial is testingCerebral Oxygen Metabolism in ChildrenWho this might be right forSickle Cell DiseaseCerebral Stroke Washington University School of Medicine 350
Not applicableActive Not RecruitingNCT03694561What this trial is testingDeveloping a Management Approach for Patients With "Late-Onset" Pompe DiseaseWho this might be right forPompe DiseasePompe Disease (Late-onset)GAA Deficiency Duke University 20
Not applicableNot Yet RecruitingNCT07704606What this trial is testingMetabolites in Blood and Breath in Metabolic ConditionsWho this might be right forInborn Errors of MetabolismEpilepsy (Treatment Refractory) University Children's Hospital, Zurich 100
Not applicableActive Not RecruitingNCT04337684What this trial is testingLong Term Follow-up on Menkes Disease PatientsWho this might be right forMenkes Disease Sentynl Therapeutics, Inc. 50
Testing effectiveness (Phase 2)Ended earlyNCT02193867What this trial is testingClinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyWho this might be right forLysosomal Acid Lipase Deficiency Alexion Pharmaceuticals, Inc. 10