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Results for “Metabolism, Inborn Errors”

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Showing 20 of 0 results

Testing effectiveness (Phase 2)Study completedNCT04165239
What this trial is testing

The KHENERGYZE Study

Who this might be right for
Mitochondrial DiseasesMitochondrial MyopathiesMitochondrial Encephalomyopathies+2 more
Khondrion BV 27
Not applicableLooking for participantsNCT04613089
What this trial is testing

Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database

Who this might be right for
Neuronal Ceroid LipofuscinosisBatten DiseaseCLN1 Disease+12 more
Universitätsklinikum Hamburg-Eppendorf 500
Large-scale testing (Phase 3)Study completedNCT01994889
What this trial is testing

Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy

Who this might be right for
Transthyretin (TTR) Amyloid Cardiomyopathy
Pfizer 441
Not applicableEnded earlyNCT01806051
What this trial is testing

A Pilot Study on Diurnal Variation

Who this might be right for
Phenylketonuria (PKU)
Dr. Linda Randolph 6
Not applicableLooking for participantsNCT06546137
What this trial is testing

National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry

Who this might be right for
Cardiomyopathy, HypertrophicCardiomyopathy, DilatedCardiomyopathy Restrictive+11 more
Hospital do Coracao 1,211
Testing effectiveness (Phase 2)Active Not RecruitingNCT05228145
What this trial is testing

Gene Therapy Study for Children With CLN5 Batten Disease

Who this might be right for
Neuronal Ceroid Lipofuscinosis CLN5
Neurogene Inc. 6
Large-scale testing (Phase 3)Study completedNCT03862807
What this trial is testing

Patisiran in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Disease Progression Post-Liver Transplant

Who this might be right for
Amyloidosis, FamilialTransthyretin Amyloidosis
Alnylam Pharmaceuticals 24
Early research (Phase 1)Study completedNCT01563432
What this trial is testing

Clinical Study to Evaluate the Pharmacokinetic Characteristics Between TMX-67 and Feburic® in Healthy Volunteers

Who this might be right for
Gout
SK Chemicals Co., Ltd. 30
Not applicableLooking for participantsNCT05473637
What this trial is testing

Taiwan Associated Genetic and Nongenetic Small Vessel Disease

Who this might be right for
Cerebral Small Vessel DiseasesCadasilHTRA1-Related Autosomal Dominant Cerebral Angiopathy+5 more
National Taiwan University Hospital 500
Not applicableUnknownNCT06050057
What this trial is testing

Surgical Treatment of Adrenal Diseases- Laparoscopic vs. Robotic-assisted Adrenalectomy

Who this might be right for
Adrenal TumorAdrenal DiseaseAdrenal Mass+10 more
University Hospital Olomouc 100
Testing effectiveness (Phase 2)Study completedNCT02675465
What this trial is testing

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

Who this might be right for
Pompe Disease
Amicus Therapeutics 29
Not applicableNot Yet RecruitingNCT07516587
What this trial is testing

Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants

Who this might be right for
Digestive HealthAbdominal DiscomfortGas and Bloating
Arrae 100
Not applicableLooking for participantsNCT03466463
What this trial is testing

Gene Therapy for Severe Crigler Najjar Syndrome

Who this might be right for
Crigler-Najjar Syndrome
Genethon 17
Not applicableLooking for participantsNCT06969209
What this trial is testing

Brain Aging in Phenylketonuria

Who this might be right for
Phenylketonuria (PKU)
Insel Gruppe AG, University Hospital Bern 90
Not applicableUnknownNCT04903587
What this trial is testing

Gonadal Changes In Congenital Adrenal Hyperplasia Patients

Who this might be right for
Congenital Adrenal Hyperplasia
Ain Shams University 50
Large-scale testing (Phase 3)Study completedNCT05238519
What this trial is testing

Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)

Who this might be right for
Familial HypercholesterolemiaCholesterol, ElevatedGenetic Disease
Essentia Health 257
Not applicableStudy completedNCT03168399
What this trial is testing

Evaluation of PKU Explore

Who this might be right for
PhenylketonuriaInborn Errors of Metabolism
Vitaflo International, Ltd 22
Testing effectiveness (Phase 2)Study completedNCT00111657
What this trial is testing

Pegylated Recombinant Mammalian Uricase (PEG-uricase) as Treatment for Refractory Gout

Who this might be right for
Gout
John Sundy 30
Large-scale testing (Phase 3)Study completedNCT00158600
What this trial is testing

A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease

Who this might be right for
Pompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency Disease+1 more
Genzyme, a Sanofi Company 90
Not applicableEnrolling By InvitationNCT06605612
What this trial is testing

Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders

Who this might be right for
Inclusion Body MyositisMyotonic DystrophyLimb-girdle and Facioscapulohumeral Muscular Dystrophies+9 more
LMU Klinikum 108
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