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Pediatrics - Neurology/

Houston, Texas

Pediatrics - Neurology and Developmental Neuroscience
Pediatrics - Neurology/
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Blue Bird Circle Clinical Research Center - Clinical Research Projects

Blue Bird Circle Clinical Research Center

Pediatric Neurology and Developmental Neuroscience at Baylor College of Medicine/Texas Children’s Hospital is actively involved in several clinical research projects designed to investigate new patient therapies and drug treatments for children suffering from neurological disorders.

The Blue Bird Circle Clinical Research Center supports the clinical research mission of Pediatric Neurology and Developmental Neuroscience by providing administrative, regulatory and study coordination services.

Currently several clinical research projects are being conducted to develop new treatments and therapies for several neurological conditions. For additional information please click on the appropriate listing below.

Autism
Epilepsy
Multiple Sclerosis
Muscular Dystrophy
Neurogenetics
Rett Syndrome
Sleep Disorders
Syncope and Orthostatic Intolerance


Autism

Metabolomic Profiling Of The Human Brain

The goal of this study is to investigate the metabolomic profile of the brain in vivo in two subtypes of Autism Spectrum Disorder , namely Asperger syndrome, Pervasive Developmental Disorder/Not Otherwise Specified and Autistic Disorder.

(Mirjana Maletic-Savatic, M.D., Ph.D., principal investigator)

Human Autism Brain Connectivity Analysis Using Functional MRI

The purpose of this study is to characterize the neuronal connectivity profile in Autism Spectrum Disorder in comparison to both children who are neurotypical and those who have a non-autistic, neurodevelopmental disorder in order to demonstrate the specificity of the obtained connectivity profile in Autism Spectrum Disorder.

(Mirjana Maletic-Savatic, M.D., Ph.D., principal investigator)


Epilepsy and related syndromes

Everolimus (RAD 001) Therapy Of Epilepsy In Patients With Tuberous Sclerosis Complex

The primary objective of this study is to evaluate the clinical effectiveness of everolimus as an adjunct treatment to reduce the seizure activity in patients with tuberous sclerosis complex. Recent basic science research has shown that immunosuppressant drugs, such as everolimus, inhibit the mammalian target of rapamycin and greatly reduce or eliminate seizures in transgenic mouse models of tuberous sclerosis complex.

(Angus Wilfong, M.D., principal investigator)

A 12-Month Open-Label Extension Study Evaluating The Safety And Tolerability Of Flexible Doses Of Pregabalin In Pediatric Patients With Partial Onset Seizures

The primary objective of this study is to evaluate the long-term safety and tolerability of pregabalin in pediatric patients 1 month through 16 years of age with partial onset seizures.

(Angus Wilfong, M.D., principal investigator)

Innovative Approaches To Gauge Progression Of Sturge-Weber Syndrome

The primary study objective is to improve the understanding and treatment of Sturge-Weber syndrome by creating a national clinical SWS database. Data for Aim 1 will be collected through the use of a questionnaire completed by study participants.

(Angus Wilfong, M.D., principal investigator)

A 12-Month Open-Label Study To Evaluate The Safety And Tolerability Of Pregabalin As Adjunctive Therapy In Pediatric Subjects 1 Month To 16 Years Of Age With Partial Onset Seizures And Pediatric And Adult Subjects 5 To 65 Years Of Age With Primary Generalized Tonic-Clonic Seizures

Study A0081106 is an open-label, flexible-dose study that will assess the long term (12 month) safety and tolerability of pregabalin. Pregabalin will be evaluated as adjunctive treatment in pediatric subjects 1 month through 16 years of age for partial onset seizures and as adjunctive treatment in pediatric and adult subjects, 5 to 65 years of age, with primary generalized tonic-clonic seizures. This study is one of several studies that will be conducted to assess the safety and efficacy of pregabalin in pediatric subjects with epilepsy and address post approval commitments to US and EU regulatory authorities. It is important to note that adult subjects, 5 to 65 years of age, with primary generalized tonic-clonic seizures will not be enrolled in the study at our site. Only eligible pediatric subjects, 1 month through 16 years of age, with partial onset seizures will be evaluated for participation.

(Angus Wilfong, M.D., principal investigator)

Open-Label, Single-Arm, Multicenter, Pharmacokinetic, Safety, And Efficacy Study Of Adjunctive Administration Of Brivaracetam In Subjects From Greater Than Or Equal To 1 Month To Less Than 16 Years Old With Epilepsy

The primary objective of this study is to characterize the steady-state pharmacokinetics of brivaracetam and its metabolites in subjects from greater than or equal to 1 month to less than 16 years of age, evaluate their relationship with physiological developmental variables, and develop dosing adaptations.

(Angus Wilfong, M.D., principal investigator)

A Three-Arm, Randomized, Double-Blind, Placebo-Controlled Study Of The Efficacy And Safety Of Two Trough-Ranges Of Everolimus As Adjunctive Therapy In Patients With Tuberous Sclerosis Complex (TSC) Who Have Refractory Partial-Onset Seizures

The primary goal of this study is to assess the efficacy and safety of everolimus as adjunctive therapy in patients with TSC who have partial-onset refractory seizures. The primary objective is to compare the reduction in frequency of partial onset seizures on each of two trough ranges of everolimus (3-7 ng/mL and 9-15 ng/mL) versus placebo in patients with TSC who are taking one to three AEDs.

(Angus Wilfong, M.D., principal investigator)

Pediatric Status Epilepticus Registry

The purpose of the study is to better understand status epilepticus and study current treatment methods in order to develop improved treatment algorithms.

(Satish Agadi, M.D., principal investigator)

Clinical And EEG Characteristics Of Refractory Status Epilepticus In Children

The specific aims of this study are to: 1. Identify the risk factors for refractory status epilepticus (RSE) in children; 2. Identify the risk factors for treatment failure with the diagnosis of RSE; 3. Evaluate the clinical outcome following the diagnosis and treatment of the children with RSE.

(Satish Agadi, M.D., principal investigator)

Quantitative Analysis Of FDG-PET Findings In Children And Adults As A Function Of Epilepsy Duration: A Retrospective Pilot Study

The purpose and specific aims of this study are to examine the relationship between duration of epilepsy and cerebral glucose metabolism in children with medically refractory epilepsy.

(Satish Agadi, M.D., principal investigator)

Retrospective Analysis Of Copy Number Variation (CNV) In Epilepsy

The objective of this protocol is to perform a retrospective review of the charts of patients who were referred for a clinical chromosome microarray with a referring diagnosis of "epilepsy," "seizures," or "infantile spasms" or who were seen at Texas Children's with a diagnosis of epilepsy and who had a CNV identified.

(Melissa B. Ramocki, M.D., Ph.D., principal investigator)


Multiple Sclerosis

Pediatric Multiple Sclerosis MRI Criteria

This study will delineate the MRI appearance of children with established MS to develop standardized outcome measurements for use in studies of MS-targeted therapies.

(Timothy E. Lotze, M.D., principal investigator)

Pediatric Multiple Sclerosis And Other Demyelinating Diseases Database

The overall objective of the PeMSDD Database is to establish and maintain a database of pediatric MS and demyelinating disease patients for the Clinical Centers of the National Pediatric Multiple Sclerosis Center.

Timothy E. Lotze, M.D., principal investigator)

Environmental And Genetic Risk Factors For Pediatric Multiple Sclerosis

In this study, we will determine if risk factors identified for adult MS such as HLA-DRB1*1501/1503, EBV, 25(OH) vitamin D3 insufficiency, and exposure to cigarette smoking are also risk factors for pediatric MS, and if there are interactions between them. This objective will be addressed in a prospective study of early pediatric-onset MS cases and matched controls recruited through the Network of Pediatric MS Centers (NPMSC). Subjects will provide blood for genotyping and viral and 25(OH) vitamin D3 status. In addition, comprehensive data will be gathered regarding environmental exposures in utero and during childhood. Studying the role of viruses and other environmental insults in the pediatric MS population provides a unique opportunity given the close temporal relationship between exposure and MS onset. In addition, we anticipate that subjects in whom the disease develops before adulthood are likely to have a higher load of risk factors, thus allowing for an easier detection of their effects and interactions.

Timothy E. Lotze, M.D., principal investigator)


Muscular Dystrophy

Longitudinal Study Of The Relationship Between Impairment, Activity Limitation, Participation And Quality Of Life In Persons With Confirmed Duchenne Muscular Dystrophy (DMD)

The study will longitudinally examine the relationship among impairment, secondary conditions, activity limitation, participation and quality of life. In addition, we will evaluate the psychosocial impact of DMD in a large cohort of subjects.

(Timothy E. Lotze, M.D., principal investigator)

A Multicenter Collaborative Study On The Clinical Features, Expression Profiling, And Quality Of Life Of Infantile Onset Facioscapulohumeral (FSH) Muscular Dystrophy

The objectives of this study are to: 1. establish an assessment battery for infantile FSHD; 2. describe the clinical features of infantile FSHD; 3. evaluate the impact of FSH muscular dystrophy on health related quality of life; 4. explore genetic modifiers of clinical phenotypes of FSH muscular dystrophy.

(Timothy E. Lotze, M.D., principal investigator)


Neurogenetics

Dna Copy Number Variations And Mutations And Neurologic Disease In Pediatric Population

The objective of this protocol is to identify disease causing copy number variations (CNVs) in a large pediatric population with neurological disease. Associated goals are to: 1. identify recurrent CNVs associated with specific phenotypes, 2. identify candidate genes for specific disorders and for future sequencing studies, 3. have access to cell lines and DNA samples that may be used in future studies with the goal of identifying genetic causes of neurologic disease or of expanding the clinical spectrum of known diseases.

(Melissa B. Ramocki, M.D., Ph.D., principal investigator)

Pathogenesis Of Xq28 (Including MECP2 And Irak1) Duplication And Triplication Syndromes

We have preliminary evidence from routine clinical evaluation of affected boys to suggest that their B cells do not function appropriately, and we also have evidence from mice that overexpress MECP2 only that the T helper cell 1 response is impaired. Furthermore, one male with MECP2 triplication has been found clinically to have absent natural killer cell function. With the protocol outlined in this proposal, we plan to investigate further these observations in order to identify the true immunological deficit(s) in these patients so that appropriate therapeutic trials may be designed.

(Melissa B. Ramocki, M.D., Ph.D., principal investigator)


Rett Syndrome

Rett Syndrome Natural History Clinical Protocol

The purpose of this study is to establish a phenotype-genotype correlation over a broad spectrum of Rett syndrome phenotypes, including the longitudinal pattern of progression, that is the natural history of clinical features across this cohort including assessment of quality of life and longevity. These data will be essential to the development and conduct of clinical trials that are anticipated from ongoing studies in animal models for Rett syndrome. This study will not include clinical trials but should set the stage for such trials. Any future clinical trials would involve additional protocol development.

(Daniel Glaze, M.D., principal investigator)

Sources Of Variation In Rett Syndrome And Mecp2 Disorders

The purpose of this protocol is to evaluate DNA, RNA, and serum from people enrolled in the Rett Syndrome Natural History project to identify genetic and molecular sources of variation in Rett syndrome including new genetic causes of disease and identify possible biomarkers.

(Jeffrey L. Neul, M.D., Ph.D., principal investigator)

A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Escalation Study Of Nnz-2566 In Rett Syndrome

This study will be an exploratory Phase II, double-blind, placebo-control, parallel-group, dose-escalation study of the safety of oral treatment with NNZ-2566 (35 or 70 mg/kg b.i.d., maximum potential daily dose 140 mg/kg, for 11 days) in adolescent and adult females with Rett Syndrome. Safety and efficacy evaluations will be based on a comparison of the two NNZ-2566 treated groups with matched placebo and true control groups.

(Daniel Glaze, M.D., Jeffrey L. Neul, M.D., Ph.D., co-principal investigators)


Sleep Disorders

Sleep Abnormalities In Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, And Prader Willi Syndrome

The principal objectives of the study are to: 1. characterize sleep behavior in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome; 2. compare sleep behavior in these individuals with sleep behavior in normal controls; 3. assess the natural history of sleep behavior in individuals with Angelman Syndrome, Rett Syndrome and Prader-Willi Syndrome.

(Daniel Glaze, M.D., principal investigator)

Mechanisms Of Sleep Disturbance In Children With Generalized Anxiety Disorder

The primary objective of this study is to evaluate the persistence, severity and features of sleep disturbance in children with GAD compared to matched controls, including relationships with anxiety and impairments in functioning. This aim will be accomplished through comprehensive diagnostic evaluation including assessment of sleep, anxiety, and home and school-based functioning during a one-week, prospective at-home assessment.

(Daniel Glaze, M.D., principal investigator)

Central Sleep Apnea In Children

The purpose of this study is to determine the characteristics of central sleep apnea associated with underlying central nervous system abnormalities. Results of this study are anticipated to provide improved methods of determining when a MRI of the brain needs to be obtained.

(Bobbi Hopkins, M.D., principal investigator)


Syncope and Orthostatic Intolerance

Syncope In Children And Adolescents

This study will determine the clinical characteristics of syncope in children and adolescents who were evaluated and managed by a pediatric neurologist in a neurology clinic setting and analyze the results of diagnostic evaluations with emphasis on the potential role of mild anemia in the pathogenesis of syncope. The study will also evaluate the response to therapy and the prognosis in this group of patients and compare the group of patients with neurocardiogenic syncope to those with other causes of syncope with respect to demographics, diagnostic testing, and prognosis.

(Imad T. Jarjour, M.D., principal investigator)

Disorders Of Orthostatic Tolerance In Children And Adolescents

The objectives of this protocol are to: 1. explore whether children and adolescents diagnosed with a disorder of orthostatic intolerance have a low serum ferritin level or are slightly anemic; 2. review any additional pertinent diagnostic findings in the course of evaluation at Texas Children's; 3. determine whether a prospective case-control study of iron status in disorders of orthostatic tolerance is warranted as the next step in this line of clinical investigation.

(Imad T. Jarjour, M.D., principal investigator)

Iron Deficiency And Iron Bioavailability In Children And Adolescents With Postural Tachycardia Syndrome: A Case Control Study

The specific aims of this study are to: 1. confirm in a prospective study whether iron deficiency (ID), without or with anemia (IDA), is associated with POTS; 2. measure iron incorporation into red blood cells (bioavailability) in POTS; 3. correlate presence of ID or IDA with iron bioavailability and nutritional data.

(Imad T. Jarjour, M.D., principal investigator)

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