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Results for “Inherited Metabolic Disorder of Nervous System”

Showing 20 of 0 results

Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Very early researchNot Yet RecruitingNCT07318909
What this trial is testing

To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria

Who this might be right for
Phenylketonuria (PKU)
Gritgen Therapeutics Co., Ltd. 9
Large-scale testing (Phase 3)Study completedNCT00125879
What this trial is testing

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

Who this might be right for
Glycogen Storage Disease Type II
Genzyme, a Sanofi Company 16
Not applicableEnded earlyNCT00078091
What this trial is testing

Genetics and Clinical Characteristics of Bardet-Biedl Syndrome

Who this might be right for
Bardet-Biedl Syndrome
National Human Genome Research Institute (NHGRI) 194
Not applicableEnded earlyNCT03101826
What this trial is testing

Optimizing the Social Engagement System in Prader-Willi Syndrome: Insights From the Polyvagal Theory

Who this might be right for
Prader-Willi Syndrome
Indiana University 5
Large-scale testing (Phase 3)Study completedNCT00059280
What this trial is testing

The Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

Who this might be right for
Glycogen Storage Disease Type II
Genzyme, a Sanofi Company 16
Not applicableAvailableNCT06931262
What this trial is testing

Expanded Access Treatment Protocol With DCA for Patients With PDCD

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency
Saol Therapeutics Inc
Not applicableActive Not RecruitingNCT05874388
What this trial is testing

Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia

Who this might be right for
Friedreich Ataxia
Institut National de la Santé Et de la Recherche Médicale, France 70
Early research (Phase 1)Active Not RecruitingNCT04737460
What this trial is testing

Study for the Treatment for CLN7 Disease

Who this might be right for
CLN7
Benjamin Greenberg 4
Not applicableStudy completedNCT04255680
What this trial is testing

Assess Variation in Potential Biomarkers in Friedreich Ataxia

Who this might be right for
Friedreich Ataxia
Larimar Therapeutics, Inc. 20
Not applicableLooking for participantsNCT06305234
What this trial is testing

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

Who this might be right for
Phenylketonuria (PKU)
BioMarin Pharmaceutical 200
Post-approval studies (Phase 4)UnknownNCT02525172
What this trial is testing

Immune Modulation Therapy for Pompe Disease

Who this might be right for
Pompe Disease
National Taiwan University Hospital 8
Not applicableStudy completedNCT03721367
What this trial is testing

Chronic Liver Disease in Urea Cycle Disorders

Who this might be right for
Urea Cycle Disorder
Baylor College of Medicine 28
Post-approval studies (Phase 4)Study completedNCT01831934
What this trial is testing

Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)

Who this might be right for
MELAS Syndrome
Stanford University 22
Post-approval studies (Phase 4)Study completedNCT01997489
What this trial is testing

Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.

Who this might be right for
Fabry Disease
Rigshospitalet, Denmark 39
Not applicableLooking for participantsNCT06894290
What this trial is testing

International Cardiac Amyloidosis Registry

Who this might be right for
Cardiac Amyloidosis
Leiden University Medical Center 300
Testing effectiveness (Phase 2)Study completedNCT01303380
What this trial is testing

Canakinumab in Patients With Active Hyper-IgD Syndrome

Who this might be right for
Mevalonate Kinase Deficiency
Novartis Pharmaceuticals 9
Post-approval studies (Phase 4)Study completedNCT00028262
What this trial is testing

Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis

Who this might be right for
Infantile Neronal Ceroid Lipofuscinosis
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 10
Not applicableWithdrawnNCT02385162
What this trial is testing

Biomarker for Glycogen Storage Diseases (BioGlycogen)

Who this might be right for
Fructose Metabolism, Inborn ErrorsGlycogen Storage DiseaseGlycogen Storage Disease Type I+7 more
CENTOGENE GmbH Rostock
Large-scale testing (Phase 3)UnknownNCT01824030
What this trial is testing

FFR or OCT Guidance to RevasculariZe Intermediate Coronary Stenosis Using Angioplasty

Who this might be right for
Ischemic Heart Disease
Catholic University of the Sacred Heart 400
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