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556 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
1 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
2 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
3 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
4 Completed Taurine Therapy for SSADH Deficiency
Condition: Succinic Semialdehyde Dehydrogenase
Intervention:
5 Completed
Has Results
Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
6 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
7 Recruiting Observational Study of Males With Creatine Transporter Deficiency
Condition: Creatine Deficiency, X-linked
Intervention:
8 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:
9 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
10 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
11 Active, not recruiting MD1003-AMN MD1003 in Adrenomyeloneuropathy
Conditions: Adrenomyeloneuropathy;   Adrenoleukodystrophy;   AMN
Interventions: Drug: MD1003 100 mg capsule;   Drug: Placebo
12 Not yet recruiting Newborn Screening for Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Intervention: Procedure: newborns testing for ALD
13 Not yet recruiting Early Diagnosis Of Childhood Cerebral ALD
Condition: Adrenoleukodystrophy
Intervention:
14 Recruiting GMP Drink for PKU Study
Condition: Phenylketonuria
Intervention: Dietary Supplement: Glycomacropeptide-based protein substitute
15 Completed Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone 10 mg Tablet High Compritol;   Drug: Orfadin
16 Completed
Has Results
Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Interventions: Drug: Nitisinone;   Drug: Nitisinone Baked Tablet;   Drug: Orfadin
17 Completed Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
18 Enrolling by invitation Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
Conditions: Cerebral Adrenoleukodystrophy (CALD);   Adrenoleukodystrophy (ALD);   X-Linked Adrenoleukodystrophy (X-ALD)
Intervention: Other: Safety and efficacy assessments
19 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
20 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

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