82 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 Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
Conditions: Tuberous Sclerosis;   Autism Disorder;   Intellectual Disability
Intervention:
4 Recruiting Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
Conditions: PTEN;   ASD;   Autism;   Macrocephaly;   PTEN Hamartoma Tumor Syndrome
Intervention:
5 Recruiting Using Ferumoxytol-Enhanced MRI to Measure Inflammation in Patients With Brain Tumors or Other Conditions of the CNS
Conditions: Brain Injury;   Central Nervous System Degenerative Disorder;   Central Nervous System Infectious Disorder;   Central Nervous System Vascular Malformation;   Hemorrhagic Cerebrovascular Accident;   Ischemic Cerebrovascular Accident;   Primary Brain Neoplasm;   Brain Cancer;   Brain Tumors
Interventions: Drug: Ferumoxytol;   Other: Tissue Analysis;   Procedure: Magnetic Resonance Imaging
6 Recruiting A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD
Conditions: Epilepsy;   Tuberous Sclerosis Complex;   Focal Cortical Dysplasia
Intervention: Drug: Everolimus
7 Recruiting Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function (ANOSPIN)
Condition: Spina Bifida
Intervention: Procedure: Colonic biopsies during endoscopy
8 Recruiting The Cognitive Variability in NF1 and TSC Monozygotic Twins
Conditions: Neurofibromatosis Type I;   Tuberous Sclerosis Complex
Intervention:
9 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
Intervention:
10 Not yet recruiting Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
Conditions: Osteopenia;   Spinal Muscular Atrophy;   Cerebral Palsy;   Muscular Dystrophy;   Spina Bifida;   Rett Syndrome
Intervention: Other: Assisted Standing Treatment Program
11 Not yet recruiting Prenatal Endoscopic Repair of Fetal Spina Bifida
Condition: Myelomeningocele
Interventions: Procedure: endoscopic repair of myelomeningocele before 26 SA;   Procedure: Postnatal Myelomeningocele Repair Surgery
12 Recruiting Micro Ribonucleic Acid (miRNA) Markers of Hydrocephalus in Intraventricular Hemorrhage (IVH)
Conditions: Intraventricular Hemorrhage;   Spina Bifida
Intervention: Genetic: collection of CSF and blood
13 Recruiting Feasibility of the Portable YouGrabber System
Conditions: Cerebral Palsy;   Stroke;   Traumatic Brain Injury;   Meningomyelocele;   Central Nervous System Diseases
Intervention: Device: YouGrabber
14 Recruiting Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy
Conditions: Giant Axonal Neuropathy;   Gene Transfer
Intervention: Drug: Intrathecal Delivery of scAAV9/JeT-GAN
15 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
16 Recruiting Clinical Trial of a Serious Game for Individuals With SCI/D
Conditions: Spinal Cord Injury;   Spinal Cord Involvement;   Spina Bifida;   Transverse Myelitis;   Polio and Post-polio Syndrome;   Syringomyelia;   Spinal Stenosis;   Spinal Neoplasms;   Spinal Cord Diseases
Intervention: Behavioral: SCI Hard
17 Recruiting Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Conditions: Amyotrophic Lateral Sclerosis;   Frontotemporal Dementia;   Primary Lateral Sclerosis;   Hereditary Spastic Paraplegia;   Progressive Muscular Atrophy;   Multisystem Proteinopathy
Intervention:
18 Not yet recruiting Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma
Conditions: Tuberous Sclerosis;   Lymphangioleiomyomatosis;   Angiomyolipoma
Intervention:
19 Recruiting Suprascapular Neuropathy in the Setting of Rotator Cuff Tears: Results of Arthroscopic Treatment
Conditions: Entrapment Neuropathy;   Rotator Cuff Tear
Intervention: Procedure: Dissection of the superior transverse scapular ligament
20 Recruiting The Nutritional Supplement Phosphatidylserine in Patients With Familial Dysautonomia
Condition: Familial Dysautonomia
Intervention: Dietary Supplement: Phosphatidylserine

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Indicates status has not been verified in more than two years