Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting
556 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Not yet recruiting Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
Condition: Pyruvate Dehydrogenase Complex Deficiency
Interventions: Drug: Dichloroacetate (DCA);   Other: Placebo;   Genetic: Genotype
22 Recruiting A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Dietary Supplement: vitamin D3
23 Recruiting Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Conditions: Metachromatic Leukodystrophy;   Adrenoleukodystrophy
Intervention: Genetic: transduced CD34+ hematopoietic stem cell
24 Not yet recruiting Simplified Diet Approach in Phenylketonuria
Condition: Phenylketonuria
Intervention: Behavioral: Dietary Protein Counting and Free Fruits and Vegetables
25 Recruiting Intervention and Outcomes in Duarte Galactosemia
Condition: Duarte Galactosemia
Intervention:
26 Active, not recruiting A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
Condition: Phenylketonuria
Intervention: Other: Administration of CANTAB and Subject Global Assessment
27 Completed Testing of Four Home Phenylalanine Monitoring Prototype Devices
Condition: Phenylketonurias
Intervention:
28 Completed Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced Thermogenesis
Condition: Phenylketonuria (PKU)
Interventions: Dietary Supplement: Phenylketonuria-type diet;   Other: Normal (control) diet
29 Withdrawn MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
30 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
31 Completed Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
32 Enrolling by invitation Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
33 Recruiting PKU Kuvan Imaging Study
Condition: Phenylketonuria
Intervention:
34 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
35 Unknown  Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Drug: Lorenzo's Oil
36 Completed Glycosylation in Patients With Galactosaemia
Condition: Classical Galactosaemia
Interventions: Other: lactose-free diet;   Dietary Supplement: Temporary oral galactose supplements
37 Unknown  Antioxidant Signature in Adult Patients With Phenylketonuria
Conditions: PKU;   Hyperphenylalaninemia
Interventions: Other: Blood sample;   Other: Urine sample
38 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
39 Enrolling by invitation Observational Study of Endothelial Dysfunction in Phenylketonuria
Conditions: Phenylketonuria;   Endothelial Dysfunction
Intervention:
40 Unknown  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

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