513 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
Show Display Options
RSS Create an RSS feed from your search for:
"succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
Need help? See RSS Feeds
Choose a feed type:
Show studies that were first received in the last 14 daysShow studies that were first received in the last 14 days
Show studies added or modified in the last 14 daysShow studies that were added or modified in the last 14 days
Rank Status Study
1 Completed PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde Dehydrogenase Deficiency;   SSADH Deficiency
Intervention:
2 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
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 Completed
Has Results
Neurologic Injuries in Adults With Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Urea Cycle Disorder;   Ornithine Transcarbamylase Deficiency
Intervention:
5 Recruiting Longitudinal Study of Urea Cycle Disorders
Conditions: Brain Diseases, Metabolic, Inborn;   Amino Acid Metabolism, Inborn Errors;   Urea Cycle Disorders
Intervention:
6 Completed Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Succinic Semialdehyde;   Dehydrogenase Deficiency;   Diseases
Intervention:
7 Recruiting Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Conditions: Metabolic Disease;   Seizures
Interventions: Drug: SGS-742;   Drug: Placebo
8 Completed Taurine Therapy for SSADH Deficiency
Condition: Succinic Semialdehyde Dehydrogenase
Intervention:
9 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
10 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
11 Active, not recruiting 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
12 Completed Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
13 Recruiting Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
Condition: Pompe Disease
Intervention: Other: Blood sample
14 Not yet recruiting Pompe Disease QMUS and EIM
Condition: Pompe Disease
Interventions: Device: Muscle ultrasound;   Other: Electrical Impedance Myography
15 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
16 Not yet recruiting Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy
Conditions: Vasculopathy, Retinal, With Cerebral Leukodystrophy;   Cerebroretinal Vasculopathy, Hereditary
Intervention: Drug: aclarubicin
17 Not yet recruiting Fabry Disease Screening in ESRD Patients in West of France
Condition: ESRD
Intervention: Other: Dried blood spot test
18 Not yet recruiting Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
Conditions: Globoid Cell Leukodystrophy;   Hurler Syndrome;   Metachromatic Leukodystrophy (MLD);   Cerebral X-linked Adrenoleukodystrophy;   Krabbe Disease
Intervention: Drug: Umbilical cord blood transplantation with HSC835
19 Recruiting Natural History and Outcome Measures in Alexander Disease
Condition: Alexander Disease
Intervention:
20 Enrolling by invitation An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
Conditions: Glycogen Storage Disease Type 2;   Dystrophia Myotonica
Intervention:

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Indicates status has not been verified in more than two years