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148 studies found for:    Open Studies | "Brain Diseases, Metabolic, Inborn"
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Rank Status Study
1 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
2 Recruiting Observational Study of Males With Creatine Transporter Deficiency
Condition: Creatine Deficiency, X-linked
Intervention:
3 Recruiting Biomarker for Metachromatic Leukodystrophy Disease
Conditions: Leukodystrophy, Metachromatic;   Hereditary Central Nervous System Demyelinating Diseases;   Brain Diseases, Metabolic, Inborn;   Sphingolipidoses;   Lysosomal Storage Diseases, Nervous System
Intervention:
4 Recruiting UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy;   Batten Disease;   Mucopolysaccharidosis II;   Leukodystrophy, Globoid Cell;   Leukodystrophy, Metachromatic;   Neimann Pick Disease;   Pelizaeus-Merzbacher Disease;   Sandhoff Disease;   Tay-Sachs Disease;   Brain Diseases, Metabolic, Inborn
Intervention: Biological: DUOC-01
5 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
6 Not yet recruiting Newborn Screening for Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Intervention: Procedure: newborns testing for ALD
7 Not yet recruiting Early Diagnosis Of Childhood Cerebral ALD
Condition: Adrenoleukodystrophy
Intervention:
8 Recruiting GMP Drink for PKU Study
Condition: Phenylketonuria
Intervention: Dietary Supplement: Glycomacropeptide-based protein substitute
9 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
10 Not yet recruiting Urease Inhibitor Drug Treatment for Urea Cycle Disorders
Conditions: Ornithine Transcarbamylase Deficiency;   Argininosuccinate Synthetase Deficiency (Citrullinemia);   Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);   Carbamyl-Phosphate Synthase I Deficiency
Interventions: Drug: Acetohydroxamic Acid;   Drug: Isotopic Intravenous [13C]-Urea
11 Not yet recruiting Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
Condition: Pyruvate Dehydrogenase Complex Deficiency
Interventions: Drug: Dichloroacetate (DCA);   Other: Placebo;   Genetic: Genotype
12 Recruiting A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Dietary Supplement: vitamin D3
13 Recruiting Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Conditions: Metachromatic Leukodystrophy;   Adrenoleukodystrophy
Intervention: Genetic: transduced CD34+ hematopoietic stem cell
14 Not yet recruiting Simplified Diet Approach in Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables
15 Recruiting Intervention and Outcomes in Duarte Galactosemia
Condition: Duarte Galactosemia
Intervention:
16 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
17 Recruiting PKU Kuvan Imaging Study
Condition: Phenylketonuria
Intervention:
18 Recruiting Nitric Oxide Supplementation in Argininosuccinic Aciduria
Conditions: Argininosuccinic Aciduria;   Argininosuccinate Lyase Deficiency;   Urea Cycle Disorders
Interventions: Dietary Supplement: Nitric oxide supplement;   Dietary Supplement: Placebo
19 Recruiting Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)
Conditions: X-Linked Adrenoleukodystrophy (X-ALD);   Cerebral Adrenoleukodystrophy (CALD);   Adrenoleukodystrophy (ALD)
Intervention: Genetic: Allo-HSCT
20 Recruiting Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Condition: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Intervention:

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Study has passed its completion date and status has not been verified in more than two years.