74 studies found for:    Open Studies | "Nervous System Malformations"
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Rank Status Study
1 Recruiting Studies of the Natural History and Pathogenesis and Outcome of Neonatal Onset Multisystem Inflammatory Disease (NOMID/CAPS, DIRA, CRMO, Still s Disease, Behcet s Disease, and Other Undifferentiated Autoinflammatory Diseases)
Conditions: Urticaria;   Arthropathy;   Lymphadenopathy;   Nervous System Anomalies
Intervention:
2 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
3 Recruiting Genetics of Spina Bifida and Anencephaly
Conditions: Anencephaly;   Acrania
Intervention:
4 Recruiting Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)
Condition: Tuberous Sclerosis Complex
Intervention:
5 Unknown  Genetics of Neural Tube Defects
Condition: Neural Tube Defects
Intervention:
6 Recruiting A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures
Condition: Tuberous Sclerosis Complex-associated Refractory Seizures
Interventions: Drug: RAD001;   Drug: Placebo
7 Recruiting Safety of Apollo Micro Catheter in Pediatric Patients
Conditions: Brain Arteriovenous Malformation (AVM);   Brain Vascular Malformations;   Vein of Galen Malformation
Intervention: Device: Apollo Micro Catheter device
8 Recruiting Study of the Disease Process of Lymphangioleiomyomatosis
Conditions: Lung Disease;   Pneumothorax;   Tuberous Sclerosis
Intervention:
9 Recruiting Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients
Condition: Complex Partial Seizures
Intervention: Drug: vigabatrin
10 Unknown  Genes Mutation Pentalogy of Cantrell
Conditions: Pentalogy of Cantrell;   Mutations in Non-muscle Genes
Intervention:
11 Recruiting Role of Genetic Factors in the Development of Lung Disease
Conditions: Cystic Fibrosis;   Sarcoidosis;   Tuberous Sclerosis;   Asthma
Intervention:
12 Recruiting The Genetics of Chiari Type I Malformation
Condition: Chiari Type I Malformation
Intervention:
13 Recruiting Human Epilepsy Genetics--Neuronal Migration Disorders Study
Conditions: Epilepsy;   Seizures;   Cognition Disorders;   Neuronal Migration Disorders
Intervention:
14 Recruiting Metabolic Screening in Patients With Donnai-Barrow Syndrome
Condition: Donnai-Barrow Syndrome
Intervention:
15 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
16 Recruiting ONYX Evaluation in the Endovascular Treatment of Cerebral Arteriovenous Malformations (cAVM)
Condition: Cerebral Arteriovenous Malformations
Intervention:
17 Recruiting Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Conditions: Muscular Dystrophies;   Muscle Myopathies;   Hereditary Spastic Paraplegias;   Inherited Neuropathies;   Inherited Neuromuscular Conditions
Intervention:
18 Not yet recruiting Ambrisentan in Single Ventricle
Conditions: Hypoplastic Left Heart Syndrome;   Hypoplastic Right-sided Heart Complex
Intervention: Drug: Ambrisentan
19 Recruiting Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
Conditions: Tay Sachs Disease;   Canavan Disease;   Familial Dysautonomia
Intervention: Other: Online pre-test genetic education tool
20 Recruiting A Prospective Natural History Study of Patients With Syringomyelia
Conditions: Syringomyelia;   Arnold Chiari Deformity
Intervention:

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Indicates status has not been verified in more than two years