Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
148 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
21 Recruiting Fabry Disease Registry
Condition: Fabry Disease
Intervention:
22 Unknown  Study of Bile Acids in Patients With Peroxisomal Disorders
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Bifunctional Enzyme Deficiency;   Adrenoleukodystrophy
Interventions: Drug: chenodeoxycholic acid;   Drug: cholic acid;   Drug: ursodiol
23 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
24 Recruiting The Natural History of Mucolipidosis Type IV
Condition: Mucolipidosis Type IV
Intervention:
25 Recruiting Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Condition: Phenylketonuria (PKU) and Hyperphenylalaninemia
Intervention:
26 Recruiting Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation
Conditions: Fabry Disease;   Cerebrovascular Accident
Intervention: Other: No intervention
27 Recruiting A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs)
Conditions: Hematologic Malignancies;   Certain:;   Inherited Disorders of Metabolism;   Inherited Abnormalities of Erythrocyte Differentiation or Function;   Inherited Abnormalities of Platelets;   Disorders of the Immune System;   Histiocytic Disorders;   X-linked Adrenoleukodystrophy;   Primary Immunodeficiency Diseases;   Bone Marrow Failure;   Beta-thalassemia
Intervention: Drug: A multicenter access and distribution protocol for unlicensed cryopreserved cord blood units (CBUs)
28 Recruiting BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)
Condition: Late-onset Pompe Disease
Intervention: Drug: BMN 701
29 Recruiting A Long Term Follow up Study in Late-onset Pompe Disease
Condition: Pompe Disease
Intervention:
30 Recruiting Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of care therapy
31 Recruiting The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease
Conditions: Fabry Disease;   Fabry´s Disease;   Anderson-Fabry Disease
Intervention:
32 Recruiting A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Biological: agalsidase alfa
33 Recruiting Betaine and Peroxisome Biogenesis Disorders
Condition: Peroxisome Biogenesis Disorder (PBD)
Intervention: Drug: Betaine
34 Recruiting Home Therapy With Replagal in Fabry Disease
Condition: Fabry's Disease
Intervention:
35 Recruiting Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Conditions: Glucocerebrosidase Mutations;   Gaucher Disease
Intervention:
36 Not yet recruiting An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112
Condition: Gaucher Disease
Intervention: Drug: PRX-112
37 Recruiting Protein Sorbent Properties of Montmorillonite in Vitro and in Vivo Models
Conditions: Urea Cycle Disorders, Inborn;   Other Metabolic Diseases
Interventions: Dietary Supplement: montmorillonite 5 g;   Dietary Supplement: montmorillonite 3 g;   Dietary Supplement: Montmorillonite 1 g
38 Unknown  Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease
Condition: Fabry Disease
Intervention: Drug: recombinant alpha-galactosidase A
39 Unknown  Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Genetic: Ornithine transcarbamylase vector
40 Not yet recruiting Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Genetic: Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase;   Drug: Rapamycin;   Other: Lactated Ringer's;   Drug: Rituxan;   Drug: Diphenhydramine;   Drug: Acetaminophen;   Drug: Lidocaine

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Indicates status has not been verified in more than two years