74 studies found for:    Open Studies | "Nervous System Malformations"
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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 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins
Conditions: Cavernous Angioma, Familial;   Cerebral Cavernous Malformations;   Cerebral Cavernous Hemangioma
Intervention: Drug: Simvastatin
3 Recruiting Fetoscopic Meningomyelocele Repair Study
Condition: Neural Tube Defect Repair
Intervention: Procedure: fetoscopy
4 Recruiting Dural Graft Equivalent Comparison Trial
Condition: Chiari Malformation
Intervention: Procedure: decompression of Chiari malformation
5 Recruiting Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
Conditions: Dyskeratosis Congenita;   Hoyeraal Hreidarsson Syndrome;   Revesz Syndrome;   Aplastic Anemia
Interventions: Biological: alemtuzumab;   Drug: Fludarabine;   Drug: Cyclosporins;   Drug: Mycophenolate mofetil
6 Recruiting Human Epilepsy Genetics--Neuronal Migration Disorders Study
Conditions: Epilepsy;   Seizures;   Cognition Disorders;   Neuronal Migration Disorders
Intervention:
7 Recruiting The Genetics of Chiari Type I Malformation
Condition: Chiari Type I Malformation
Intervention:
8 Not yet recruiting Ambrisentan in Single Ventricle
Conditions: Hypoplastic Left Heart Syndrome;   Hypoplastic Right-sided Heart Complex
Intervention: Drug: Ambrisentan
9 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
10 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Muscular Dystrophy;   Congenital Muscular Dystrophy;   Fukutin-related Protein Gene;   Limb Girdle;   FKRP Gene;   Childhood Onset LGMD;   Adult Onset LGMD;   POMT1;   POMT2;   POMGnT1;   LARGE;   Alpha Dystroglycan;   Dystroglycanopathy;   Centronuclear;   Multiminicore;   Multicore;   Minicore;   Congenital Fiber Type Disproportion;   Myotubular;   Nemaline;   Congenital Myopathy;   Neuromuscular;   Rigid Spine;   Phenotype-Genotype Correlation;   Cough Assisted Device;   Neuromuscular Disease;   Respiratory Exacerbation;   Invasive Ventilation;   Chest Physiotherapy;   Congenital Myopathies;   Genetic Mutations;   Hypertrophic Cardiomyopathy;   Wheelchair Use;   Cataract;   Opthalmoplegia;   Ullrich Congenital Muscular Dystrophy;   Intermediate Collagen VI Myopathy;   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   MDC1A;   Merosin Deficient Congenital Muscular Dystrophy;   Congenital Muscular Dystrophy Undiagnosed;   Congenital Muscular Dystrophy Merosin Positive;   Walker Warburg Syndrome;   Muscle Eye Brain Disease;   Fukuyama;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   Laminopathy;   Lamin AC;   SEPN 1 Related Myopathies;   Bethlem Myopathy;   Dystroglycanopathies;   LGMD2K;   LGMD2I;   LGMD2L;   LGMD2N;   Actin Aggregation Myopathy;   Cap Disease;   Central Core Disease;   Centronuclear Myopathy;   Core Rod Myopathy;   Hyaline Body Myopathy;   Multiminicore Myopathy;   Myotubular Myopathy;   Nemaline Myopathy;   Tubular Aggregate Myopathy;   Zebra Body Disease Myopathy;   Congenital Myopathy Other;   Reducing Body Myopathy;   Sarcotubular Myopathy;   Spheroid Body Myopathy
Intervention:
11 Recruiting MRI for the Early Evaluation of Acute Intracerebral Hemorrhage
Conditions: Cerebral Hemorrhage;   Intracranial Arteriovenous Malformations;   Intracranial Hemorrhage, Hypertensive;   Brain Neoplasms
Intervention: Device: MRI Scan with the specified sequences below:
12 Recruiting A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis
Condition: Tuberous Sclerosis
Interventions: Drug: Placebo;   Drug: Everolimus (RAD001)
13 Recruiting Role of Genetic Factors in the Development of Lung Disease
Conditions: Cystic Fibrosis;   Sarcoidosis;   Tuberous Sclerosis;   Asthma
Intervention:
14 Unknown  Genes Mutation Pentalogy of Cantrell
Conditions: Pentalogy of Cantrell;   Mutations in Non-muscle Genes
Intervention:
15 Recruiting Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Conditions: Charcot-Marie-Tooth Disease, Type Ia (Disorder);   HMSN
Intervention:
16 Recruiting Rapalogues for Autism Phenotype in TSC: A Feasibility Study
Conditions: Tuberous Sclerosis Complex;   Self-injury;   Autism
Interventions: Drug: Sirolimus;   Drug: Everolimus
17 Unknown  Study of Bile Acids in Patients With Peroxisomal Disorders
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Bifunctional Enzyme Deficiency;   Adrenoleukodystrophy
Interventions: Drug: chenodeoxycholic acid;   Drug: cholic acid;   Drug: ursodiol
18 Recruiting Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Condition: Charcot Marie Tooth Disease
Intervention:
19 Recruiting Study of Skin Tumors in Tuberous Sclerosis
Conditions: Hereditary Neoplastic Syndrome;   Tuberous Sclerosis
Intervention:
20 Recruiting Metabolic Screening in Patients With Donnai-Barrow Syndrome
Condition: Donnai-Barrow Syndrome
Intervention:

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