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Results for “Brain Diseases, Metabolic, Inborn”

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Showing 20 of 0 results

Large-scale testing (Phase 3)Ended earlyNCT04221451
What this trial is testing

A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2

Who this might be right for
Tay-Sachs DiseaseSandhoff Disease
Genzyme, a Sanofi Company 75
Not applicableUnknownNCT02469181
What this trial is testing

Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)

Who this might be right for
Fabry's Disease
Yonsei University 20
Not applicableLooking for participantsNCT05734521
What this trial is testing

Avalglucosidase Alfa Pregnancy Study

Who this might be right for
Pompe DiseasePregnancy
Sanofi 100
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07173933
What this trial is testing

Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)

Who this might be right for
Wilson Disease
GeneCradle Inc 15
Not applicableLooking for participantsNCT01659749
What this trial is testing

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

Who this might be right for
PregnancyPhenylketonuria
Emory University 200
Not applicableLooking for participantsNCT03240653
What this trial is testing

Gaucherite - A Study to Stratify Gaucher Disease

Who this might be right for
Gaucher Disease, Type IGaucher Disease, Type III
Cambridge University Hospitals NHS Foundation Trust 250
Not applicableWithdrawnNCT06227429
What this trial is testing

A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients

Who this might be right for
Hereditary Tyrosinemia, Type I
Swedish Orphan Biovitrum
Early research (Phase 1)Study completedNCT03056209
What this trial is testing

Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers

Who this might be right for
MELAS SyndromeMitochondrial Respiratory Chain Deficiencies
Yungjin Pharm. Co., Ltd. 60
Early research (Phase 1)UnknownNCT00004307
What this trial is testing

Study of Treatment and Metabolism in Patients With Urea Cycle Disorders

Who this might be right for
Amino Acid Metabolism, Inborn Errors
National Center for Research Resources (NCRR) 66
Early research (Phase 1)UnknownNCT03893071
What this trial is testing

Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C

Who this might be right for
Niemann-Pick Disease, Type C1
Cyclo Therapeutics, Inc. 12
Not applicableStudy completedNCT02450604
What this trial is testing

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain

Who this might be right for
Fabry's DiseaseChronic Pain
University Hospital, Bordeaux 776
Not applicableStudy completedNCT01938014
What this trial is testing

Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Who this might be right for
Mucopolysaccharidosis Type I (MPS I)Mucopolysaccharidosis Type II (MPS II)Mucopolysaccharidosis Type III (MPS III)+2 more
University of Chicago 19
Not applicableEnded earlyNCT03343756
What this trial is testing

HepaStem Long-Term Safety Registry

Who this might be right for
Urea Cycle DisorderCrigler-Najjar SyndromeAcute on Chronic Liver Failure
Cellaion SA 44
Testing effectiveness (Phase 2)Study completedNCT00631202
What this trial is testing

Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia

Who this might be right for
Friedreich's Ataxia
Federico II University 10
Very early researchStudy completedNCT01339494
What this trial is testing

Nitric Oxide Production in MELAS Syndrome

Who this might be right for
MELAS Syndrome
Baylor College of Medicine 30
Large-scale testing (Phase 3)Study completedNCT04966741
What this trial is testing

Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity

Who this might be right for
Bardet-Biedl SyndromePOMC Deficiency ObesityPCSK1 Deficiency Obesity+1 more
Rhythm Pharmaceuticals, Inc. 12
Not applicableStudy completedNCT06496451
What this trial is testing

Measurement of Frataxin mRNA in Biofluids

Who this might be right for
Friedreich Ataxia
University of Florida 10
Post-approval studies (Phase 4)Study completedNCT02677870
What this trial is testing

The Effectiveness of Kuvan in Amish PKU Patients

Who this might be right for
Phenylketonuria
University Hospitals Cleveland Medical Center 7
Large-scale testing (Phase 3)WithdrawnNCT01161914
What this trial is testing

The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease

Who this might be right for
Gaucher Disease
ISU Abxis Co., Ltd.
Not applicableUnknownNCT03188107
What this trial is testing

Interrater Reliability of Infant Motor Profile

Who this might be right for
Premature InfantsCerebral PalsyDown Syndrome+3 more
Abant Izzet Baysal University 50
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