Early research (Phase 1)Ended earlyNCT06681766What this trial is testingAssess Nomlabofusp in Adolescents and Children With Friedreich's AtaxiaWho this might be right forFriedreich Ataxia Larimar Therapeutics, Inc. 18
Not applicableEnrolling By InvitationNCT06938542What this trial is testingPalliative Care Needs of Children With Rare Diseases and Their FamiliesWho this might be right forTrisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more Children's National Research Institute 480
Early research (Phase 1)Study completedNCT03533673What this trial is testingAAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe DiseaseWho this might be right forPompe Disease AskBio Inc 7
Large-scale testing (Phase 3)Study completedNCT02319005What this trial is testingENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Who this might be right forTransthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)Amyloidosis, HereditaryAmyloid Neuropathies, Familial+3 more Alnylam Pharmaceuticals 206
Very early researchStudy completedNCT05948020What this trial is testingEfficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With PhenylketonuriaWho this might be right forPhenylketonuria Children's Hospital of Fudan University 15
Not applicableStudy completedNCT03167697What this trial is testingEvaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or HyperphenylalaninemiaWho this might be right forPhenylketonuriasHyperphenylalaninaemia, Type I Nutricia UK Ltd 14
Not applicableLooking for participantsNCT07495410What this trial is testingAnderson-Fabry Disease Fitness Improvement TrainingWho this might be right forFabry Disease General University Hospital, Prague 50
Not applicableUnknownNCT04893889What this trial is testingSubstudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease.Who this might be right forFabry DiseaseAmyloidosis University of Sao Paulo General Hospital 60
Not applicableStudy completedNCT05106764What this trial is testingEarly Detection of Fabry DiseaseWho this might be right forFabry Disease Takeda 50
Not applicableLooking for participantsNCT06192576What this trial is testingA Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)Who this might be right forNiemann-Pick DiseasesAcid Sphingomyelinase Deficiency Sanofi 10
Very early researchStudy completedNCT02424435What this trial is testingMethylprednisolone Treatment of Friedreich AtaxiaWho this might be right forFriedreich Ataxia Children's Hospital of Philadelphia 11
Post-approval studies (Phase 4)UnknownNCT02405624What this trial is testingCPAP for Infantile Pompe DiseaseWho this might be right forPompe Disease National Taiwan University Hospital 3
Post-approval studies (Phase 4)Study completedNCT02246218What this trial is testingThe Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle DisordersWho this might be right forUrea Cycle Disorder Amgen 27
Not applicableEnded earlyNCT04008849What this trial is testingA Follow-up Study in Patients With Inherited Metabolic Disorders (IMD) Who Underwent Hematopoietic Stem Cell Transplantation (HSCT) With MGTA-456Who this might be right forInherited Metabolic Disorders (IMD) Magenta Therapeutics, Inc. 3
Post-approval studies (Phase 4)Looking for participantsNCT05067868What this trial is testingReplagal in Children and Adults With Fabry Disease in IndiaWho this might be right forFabry Disease Shire 5
Early research (Phase 1)Study completedNCT01747135What this trial is testingHydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseWho this might be right forNiemann-Pick Disease, Type C1 Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company 14
Testing effectiveness (Phase 2)Study completedNCT07820579What this trial is testingSirolimus Treatment in Pediatric Patients With Ataxia-TelangiectasiaWho this might be right forAtaxia-Telangiectasia (A-T)Ataxia-Telangiectasia Sara Elva Espinosa Padilla, MD 6
Not applicableActive Not RecruitingNCT02698579What this trial is testingLong-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug ProductWho this might be right forCerebral Adrenoleukodystrophy (CALD)Adrenoleukodystrophy (ALD)X-Linked Adrenoleukodystrophy (X-ALD) Genetix Biotherapeutics Inc. 64
Not applicableEnded earlyNCT01421888What this trial is testingThe NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityWho this might be right forArgininosuccinic AciduriaCarbamoyl-Phosphate Synthase I DeficiencyCitrullinemia+3 more National Human Genome Research Institute (NHGRI) 4
Not applicableActive Not RecruitingNCT07151950What this trial is testingObi Medical Robot: Evaluating Effectiveness Related to UsabilityWho this might be right forUpper Extremity ImpairmentsCerebral Palsy (CP)ALS - Amyotrophic Lateral Sclerosis+1 more Desin LLC 50