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Results for “Inherited Metabolic Disorder of Nervous System”

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Showing 20 of 0 results

Not applicableLooking for participantsNCT05797857
What this trial is testing

Exercise Training in Transthyretin Cardiac Amyloidosis

Who this might be right for
Amyloid CardiomyopathyTransthyretin Cardiac Amyloidosis
Brigham and Women's Hospital 40
Not applicableLooking for participantsNCT05698901
What this trial is testing

Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease

Who this might be right for
Fabry Disease
Mackay Memorial Hospital 150
Testing effectiveness (Phase 2)Study completedNCT02660112
What this trial is testing

(+) Epicatechin to Treat Friedreich's Ataxia

Who this might be right for
Friedreich's Ataxia
Ralitza Gavrilova 10
Not applicableEnded earlyNCT01547832
What this trial is testing

Mutations Associated With Parkinson s Disease

Who this might be right for
Parkinson's Disease
National Heart, Lung, and Blood Institute (NHLBI) 42
Testing effectiveness (Phase 2)Study completedNCT00763932
What this trial is testing

Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies

Who this might be right for
Pompe Disease Infantile-OnsetGlycogen Storage Disease Type II
Genzyme, a Sanofi Company 7
Not applicableStudy completedNCT00932932
What this trial is testing

Cortisol Activity in Patients With Prader-Willi Syndrome and Healthy Controls

Who this might be right for
Prader-Willi Syndrome
Children's Mercy Hospital Kansas City 36
Not applicableEnded earlyNCT05827536
What this trial is testing

Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.

Who this might be right for
Phenylketonurias
APR Applied Pharma Research s.a. 21
Not applicableStudy completedNCT01626092
What this trial is testing

Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders

Who this might be right for
Lysosomal Storage DiseasePeroxisomal Disorder
Masonic Cancer Center, University of Minnesota 3
Testing effectiveness (Phase 2)Study completedNCT01301898
What this trial is testing

To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients

Who this might be right for
Mucopolysaccharidosis II
Green Cross Corporation 31
Not applicableStudy completedNCT05109793
What this trial is testing

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

Who this might be right for
GM1 GangliosidosisSandhoff DiseaseTay-Sachs Disease
Azafaros B.V. 31
Not applicableLooking for participantsNCT02399748
What this trial is testing

A Long-term Study for the Outcome of Pompe Disease

Who this might be right for
Pompe Disease
National Taiwan University Hospital 50
Not applicableUnknownNCT05816993
What this trial is testing

Assessment of Neurological Manifestations in Gaucher Disease Patients

Who this might be right for
Gaucher Disease
Assiut University 45
Not applicableWithdrawnNCT02309632
What this trial is testing

Pancreatic Cancer Screening of High-Risk Individuals in Arkansas

Who this might be right for
Pancreatic NeoplasmsPeutz-Jegher's SyndromeBRCA1 Gene Mutation+5 more
University of Arkansas
Not applicableLooking for participantsNCT05579548
What this trial is testing

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

Who this might be right for
Phenylketonuria, Maternal
BioMarin Pharmaceutical 50
Testing effectiveness (Phase 2)Study completedNCT00730314
What this trial is testing

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

Who this might be right for
Sickle Cell DiseaseThalassemiaAnemia+9 more
Children's Hospital Los Angeles 25
Not applicableUnknownNCT00497484
What this trial is testing

Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia)

Who this might be right for
PseudohypoparathyroidismGrowth Hormone Deficiency, Dwarfism
University of Milan
Not applicableStudy completedNCT07759466
What this trial is testing

Hippo Signaling Pathway Proteins in Gingival Crevicular Fluid of Individuals With Periodontal Disease

Who this might be right for
Periodontal DiseaseGingivitis and Periodontal DiseasesBiomarker Discovery and Validation+1 more
Inonu University 75
Not applicableStudy completedNCT04898829
What this trial is testing

Evaluation of PKU Explore France

Who this might be right for
Phenylketonurias
Vitaflo International, Ltd 7
Not applicableStudy completedNCT06801288
What this trial is testing

Diagnostic Role of Renal Biopsy in Patients With Fabry Disease

Who this might be right for
Fabry Disease
IRCCS Azienda Ospedaliero-Universitaria di Bologna 80
Not applicableStudy completedNCT02212288
What this trial is testing

Antioxidant Signature in Adult Patients With Phenylketonuria

Who this might be right for
PKUHyperphenylalaninemia
University Hospital, Tours 20
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