Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
64 studies found for:    Open Studies | "Nervous System Malformations"
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Rank Status Study
1 Recruiting Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, Behcet's Disease, and Other Undifferentiated Autoinflammatory Diseases)
Conditions: Urticaria;   Arthropathy;   Lymphadenopathy;   Nervous System Anomalies
Intervention:
2 Not yet recruiting Reverse Transcriptase Inhibitors in AGS
Condition: Aicardi-Goutières Syndrome (AGS)
Intervention: Drug: Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
3 Recruiting Study of Skin Tumors in Tuberous Sclerosis
Conditions: Hereditary Neoplastic Syndrome;   Tuberous Sclerosis
Intervention:
4 Recruiting Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Condition: Charcot Marie Tooth Disease
Intervention:
5 Recruiting Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial
Condition: Spina Bifida
Interventions: Device: Retrograde Colonic Irrigation;   Other: Usual Care
6 Recruiting Genetics of Spina Bifida and Anencephaly
Conditions: Anencephaly;   Acrania
Intervention:
7 Recruiting Fetoscopic Meningomyelocele Repair Study
Condition: Neural Tube Defect
Intervention: Device: fetoscopy
8 Recruiting The Safety and Tolerability of Kinetin, in Patients With Familial Dysautonomia
Condition: Familial Dysautonomia
Intervention: Dietary Supplement: Kinetin
9 Unknown  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
10 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:
11 Recruiting ONYX Evaluation in the Endovascular Treatment of Cerebral Arteriovenous Malformations (cAVM)
Condition: Cerebral Arteriovenous Malformations
Intervention:
12 Unknown  Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study)
Condition: Recurrent Neural Tube Defects
Interventions: Drug: Folic Acid and inositol;   Drug: Folic acid and placebo
13 Unknown  Modifiers of Disease Severity in Cerebral Cavernous Malformations
Conditions: Cavernous Angioma, Familial;   Cerebral Cavernous Malformations;   Cerebral Cavernous Hemangioma
Intervention: Other: Natural history data collection
14 Recruiting A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis
Condition: Tuberous Sclerosis
Interventions: Drug: Placebo;   Drug: Everolimus (RAD001)
15 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
16 Recruiting Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
Conditions: Charcot Marie Tooth Disease;   Inherited Peripheral Neuropathy
Intervention:
17 Unknown  Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
Condition: Charcot-Marie-Tooth Type 1A Neuropathy
Intervention:
18 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:
19 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:
20 Recruiting Human Epilepsy Genetics--Neuronal Migration Disorders Study
Conditions: Epilepsy;   Seizures;   Cognition Disorders;   Neuronal Migration Disorders
Intervention:

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