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Results for “Inherited Metabolic Disorder of Nervous System”

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Showing 20 of 0 results

Testing effectiveness (Phase 2)Study completedNCT00532844
What this trial is testing

A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction

Who this might be right for
Endothelial Dysfunction
BioMarin Pharmaceutical 52
Not applicableStudy completedNCT05971563
What this trial is testing

Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers

Who this might be right for
Phenylketonurias
Birmingham Women's and Children's NHS Foundation Trust 20
Not applicableEnrolling By InvitationNCT06888570
What this trial is testing

Relationship Between Eating Patterns, Body Composition and the Detection of Fatty Liver in Children and Adolescents With Trisomy 21: LiverTy Project

Who this might be right for
Obesity PreventionPediatric ObesityTrisomy 21+6 more
IMDEA Food 34
Testing effectiveness (Phase 2)Active Not RecruitingNCT04411654
What this trial is testing

Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)

Who this might be right for
Gaucher Disease, Type 2
Prevail Therapeutics 7
Post-approval studies (Phase 4)Study completedNCT04801303
What this trial is testing

Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients

Who this might be right for
Friedreich Ataxia
Berta Alemany 20
Large-scale testing (Phase 3)Study completedNCT01819727
What this trial is testing

An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165

Who this might be right for
Phenylketonuria
BioMarin Pharmaceutical 261
Not applicableStudy completedNCT01999257
What this trial is testing

Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.

Who this might be right for
Tay Sachs DiseaseCanavan DiseaseFamilial Dysautonomia
McGill University Health Centre/Research Institute of the McGill University Health Centre 60
Not applicableLooking for participantsNCT06197165
What this trial is testing

Amylo-Shiatsu-Acute-Chronic: Effects of Shiatsu on Symptoms and Quality of Life of Amyloidosis Patients

Who this might be right for
Cardiac Amyloidosis
Assistance Publique - Hôpitaux de Paris 108
Large-scale testing (Phase 3)Study completedNCT01411228
What this trial is testing

Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease

Who this might be right for
Gaucher Disease
Pfizer 15
Testing effectiveness (Phase 2)Ended earlyNCT01372228
What this trial is testing

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Who this might be right for
Hurler Syndrome (MPS I)Hurler-Scheie SyndromeHunter Syndrome (MPS II)+9 more
Talaris Therapeutics Inc. 3
Not applicableWithdrawnNCT00770419
What this trial is testing

Perceptions of Burden in Patients With Late-Stage Cancer and Their Caregivers

Who this might be right for
Brain and Central Nervous System TumorsChronic Myeloproliferative DisordersDepression+7 more
Rutgers, The State University of New Jersey
Not applicableUnknownNCT05448131
What this trial is testing

ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity

Who this might be right for
Pompe-Disease
Centre for Analytical Biochemistry and Biomedical Mass Spectrometry 50
Not applicableEnded earlyNCT00726830
What this trial is testing

Methadone, Morphine, or Oxycodone in Treating Pain in Patients With Cancer

Who this might be right for
Brain and Central Nervous System TumorsChronic Myeloproliferative DisordersLeukemia+8 more
M.D. Anderson Cancer Center 1
Testing effectiveness (Phase 2)Study completedNCT01304277
What this trial is testing

This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.

Who this might be right for
Fabry Disease
Shire 17
Not applicableLooking for participantsNCT00231400
What this trial is testing

Pompe Disease Registry Protocol

Who this might be right for
Glycogen Storage Disease Type IIPompe Disease
Genzyme, a Sanofi Company 2,000
Not applicableStudy completedNCT02903654
What this trial is testing

Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana

Who this might be right for
Pompe's Disease
Centre Hospitalier de Cayenne 925
Early research (Phase 1)Study completedNCT00004294
What this trial is testing

Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease

Who this might be right for
Gaucher's Disease
National Center for Research Resources (NCRR) 15
Not applicableStudy completedNCT02826694
What this trial is testing

North Carolina Newborn Exome Sequencing for Universal Screening

Who this might be right for
Metabolism, Inborn ErrorsHearing LossHereditary Disease
University of North Carolina, Chapel Hill 106
Not applicableUnknownNCT01344096
What this trial is testing

Thrombocytopathy in Gaucher Disease Patients

Who this might be right for
Gaucher DiseaseThrombocytopathy
Rabin Medical Center 70
Not applicableStudy completedNCT00446862
What this trial is testing

The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study

Who this might be right for
Fabry DiseaseProteinuria
University of Alabama at Birmingham 36
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