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Found 50 studies with search of: Open Studies | "Nervous System Malformations"
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Rank Status Study
1 Recruiting Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease
Conditions: Nervous System Malformations;   Arthropathy, Neurogenic;   Urticaria;   Papilledema
Intervention: Drug: Anakinra
2 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:
3 Unknown † Comparison of Abnormal Cortical Development in Brain Malformations on Postmortem Imaging With Autopsy
Condition: Brain Malformation
Interventions: Procedure: MR Imaging;   Procedure: Autopsy
4 Recruiting Human Epilepsy Genetics--Neuronal Migration Disorders Study
Conditions: Epilepsy;   Seizures;   Cognition Disorders;   Neuronal Migration Disorders
Intervention:
5 Recruiting The Genetics of Chiari Type I Malformation
Condition: Chiari Type I Malformation
Intervention:
6 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:
7 Not yet recruiting Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)
Conditions: Charcot-Marie-Tooth Disease;   Charcot-Marie-Tooth Disease Type 1A
Interventions: Other: TreSPE;   Other: SPE
8 Unknown † Brain Development Research Program
Conditions: Brain Disorders;   Aicardi Syndrome
Intervention:
9 Not yet recruiting Microcephaly Genetic Deficiency in Neural Progenitors
Condition: Microcephaly
Intervention:
10 Recruiting Studies of Autistic Patients: Gene Networks and Clinical Subtypes
Conditions: Autism;   Tuberous Sclerosis
Intervention:
11 Recruiting A Prospective Natural History Study of Patients With Syringomyelia
Conditions: Syringomyelia;   Arnold Chiari Deformity
Intervention:
12 Recruiting Study of Selected X-Linked Disorders: Aicardi Syndrome
Conditions: Aicardi Syndrome;   Brain Disorders
Intervention:
13 Recruiting Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Condition: Tuberous Sclerosis Complex
Intervention: Drug: RAD001
14 Recruiting Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia
Conditions: Growth Hormone Deficiency;   Septo-Optic Dysplasia;   Hypopituitarism
Intervention: Drug: Nutropin AQ
15 Recruiting Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
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 Giant Axonal Neuropathy Natural History Study
Condition: Giant Axonal Neuropathy
Intervention:
17 Recruiting Clinical and Genetic Studies on Holoprosencephaly
Condition: Holoprosencephaly
Intervention:
18 Unknown † Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid
Condition: Spinal Dysraphism
Intervention:
19 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
20 Recruiting Role of Genetic Factors in the Development of Lung Disease
Conditions: Cystic Fibrosis;   Sarcoidosis;   Tuberous Sclerosis;   Asthma
Intervention:

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