Pediatric Brain Center Research


Cerebrovascular Conditions/Stroke

Christine K. Fox

Seizures in Pediatric Stroke (SIPS II) Study

A previous pediatric stroke study, SIPS I, found that acute post-stroke seizures are associated with a higher risk of epilepsy in children. Dr. Christine Fox is leading SIPS II, a multicenter study researching the extent that post-stroke seizures in children are associated with stroke-related death, neurologic recovery and epilepsy risk in the next five years. SIPS II also focuses on identifying neuroimaging biomarkers associated with acute seizures and epilepsy and identifying EEG biomarkers associated with severe neurologic outcomes and epilepsy. SIPS II aims to improve understanding of the association of post-stroke epilepsy to improve management strategies and outcomes for patients.

Heather J. Fullerton

Vascular effects of Infection in Pediatric Stroke II (VIPS II) Study

A previous study, VIPS I, found that infection can play a role in triggering strokes in children and that routine childhood vaccines can protect against stroke. Dr. Heather Fullerton is leading VIPS II, a multicenter study funded by the National Institutes of Health, which will extend this research by testing the hypothesis that different pathogens, pathogen strains, pathogen combinations and host inflammatory responses may underlie different subtypes of childhood stroke. The purpose of this study is to learn more about childhood ischemic stroke. UCSF Benioff Children's Hospital and other children's hospitals in the United States, Canada and Australia are currently enrolling cases and controls for this study.

Epilepsy

Nilika Singhal

Dr. Nilika Singhal has ongoing clinical projects in pediatric epilepsy. She participates in a national registry for a rare genetic epilepsy, PCDH19 epilepsy, to track current treatment practices and associated symptoms. She is involved in multisite national research through the Pediatric Epilepsy Research Consortium, seeking to collaboratively improve the treatment of epileptic encephalopathies. She also works on quality improvement projects for UCSF's Pediatric Brain Center and inpatient epilepsy monitoring unit.

Joseph Sullivan

Dr. Joseph Sullivan is conducting a number of trials in pediatric epilepsy. He is the coordinating investigator of a multicenter trial of fenfluramine for treating Dravet syndrome and will soon open another trial of fenfluramine for Lennox-Gastaut syndrome. He also chairs the steering committee of the Pediatric Epilepsy Research Consortium and continues to enroll patients with infantile spasms into a prospective registry. Finally, he is the site principal investigator for the Epilepsy Genetics Initiative sponsored by CURE (Citizens United for Research in Epilepsy), which seeks to enroll patients who have had inconclusive or negative whole exome sequencing, with the goal of identifying novel epilepsy genes.

Headache

Amy Gelfand

Dr. Amy Gelfand heads the pediatric headache research program's investigation of novel therapies for preventing and treating migraine in children and adolescents. Gelfand's research program also includes observational studies of primary headache disorders in children as well as early childhood disorders that may be a version of migraine, such as infant colic and cyclic vomiting syndrome.

William Qubty

Dr. William Qubty is working to identify the potential benefits of using telehealth video visits to care for patients in their homes. He hopes this will result in improved patient care and satisfaction as well as reduced costs and resource utilization. He also participates in clinical trials seeking safe and effective natural treatments to prevent migraines.

Movement Disorders

Nalin Gupta

A Single-Stage, Adaptive Open Label Dose Escalation Safety Study of Adeno-Associated Virus Encoding Human Aromatic L-amino Acid Decarboxylase (AAV2-hAADC) Administered by MR-Guided Infusion into the Midbrain in Pediatric Patients with AADC Deficiency.

For this project, researchers are enrolling children with a genetic defect that results in developmental delay and movement disorders. The study looks at gene replacement therapy by direct infusion into the brainstem. The study is funded by the National Institutes of Health.

Amy R. Viehoever

Dr. Amy Viehoever is investigating the effectiveness of a new brain target for deep brain stimulation (DBS) in children and young adults between the ages of 7 and 25 with secondary dystonia. The study involves screening visits with a neurologist, neurosurgeon and neuropsychologist, surgery to implant the DBS device and six follow-up visits over 12 months. The team will collect data on changes in symptoms, quality of life, mood and cognition in the participants. Study visits will take place at the Mount Zion and Mission Bay campuses.

Multiple Sclerosis/Neuroimmunology

Jennifer Graves

Dr. Jennifer Graves has ongoing research projects on pediatric multiple sclerosis and optic neuritis. She participates in national and international collaborations on research into outcomes and risk factors for both diseases.

Emmanuelle Waubant

Environmental and Genetic Risk Factors for Pediatric Multiple Sclerosis (MS)

This study seeks to better understand multiple sclerosis (MS) in children and adolescents, to learn if it differs from adult MS and if genes, environmental exposures, or a combination of both put children and adolescents at risk for getting MS. A better understanding of the disease will lead to better care for MS patients and possibly will help in prevention. Across the United States, about 160 children and adolescents with early relapsing-remitting MS (RRMS) and 320 children and adolescents who don't have RRMS will take part each year for four years. Enrollment is ongoing. This study is funded by the National Institutes of Health.

Microbiomes in Pediatric Multiple Sclerosis (MS)

The purpose of this study is to examine whether microbiomes in the gut and elsewhere in the body influence MS risk. Microbiome is defined as a collection of microbes (bacteria, viruses and single-cell organisms whose cells possess a membrane-bound structure called a nucleus that contains the genetic material) that live inside the human body. The goal is to improve patient care and possibly prevent MS. The study will include about 70 children and adolescents with early MS or clinically isolated syndrome (CIS) and 70 children and adolescents who don't have MS or CIS . Enrollment is ongoing. This study is funded by the National Multiple Sclerosis Society.

Pediatric Multiple Sclerosis Cohort

The purpose of this study is to examine how pediatric-onset MS differs from other diseases that can occur at the same age and to find a way to predict the long-term evolution of the disease. About 1,500 children and adolescents will take part in this study. Enrollment is ongoing.

Patient and Family Views on Pediatric Multiple Sclerosis Research Needs, Outcomes and Methods

The purpose of this study is to gather patients' and parents' opinions on the types of clinical and research work needed to improve care for children with MS. Parents of children with MS and adults with pediatric-onset MS will participate in focus groups to share views on how best to perform such research and what type of outcomes are important for researchers to understand. About 60 people will take part in this national study. Enrollment is ongoing. This study is funded by the National Multiple Sclerosis Society.

Neonatal Neurology

Hannah Glass

Dr. Hannah Glass conducts research that uses advanced imaging and brain monitoring to help predict which children will develop developmental delay, cerebral palsy, intellectual disability or epilepsy following newborn brain injury.

Yvonne Wu

High-dose Erythropoietin for Asphyxia and Encephalopathy (HEAL study)

Hypoxic-ischemic encephalopathy (HIE) occurs when a baby suffers reduced oxygen and blood flow to the brain near the time of birth. HIE can lead to death or neurologic disabilities such as cerebral palsy and cognitive impairment. Erythropoietin (Epo) is a cytokine with remarkable neuroprotective effects demonstrated in animal models of neonatal brain injury. Dr. Yvonne Wu is one of the principal investigators of a multicenter clinical trial to determine whether giving high doses of EPO to newborns with HIE during the first week of life will improve neurological development and reduce the severity of brain injury. More information: www.heal-trial.org

Neurodevelopment

Elysa J. Marco

Etiology of Neurodevelopmental Disorders

Brain Imaging: Dr. Elysa Marco's brain imaging studies assess whether children with sensory processing dysfunction show differences in their brain wiring compared to their developmentally typical peers. Her research connects these biological findings to directly observable behaviors such as sensory responsiveness and integration, cognition and regulation of emotions.

Genetics: Marco's genetics studies investigate whether genetic influences can explain traits seen in autism spectrum disorders and sensory processing dysfunction.

Cognitive Training: Marco is assessing the use of video-game like iPad interventions to treat attention deficits in children with neurodevelopmental disorders. In this study, children use the iPad intervention for about 30 minutes a day for one month. The researchers use behavioral assessments and electroencephalograms to compare the children's attention abilities before and after treatment.

Kevin Shapiro

Language Development and Cortical Plasticity after Early Brain Injury

The goal of this project is to understand the relationship of structural and functional changes in the brain to language outcomes in children with early brain injury, such as perinatal ischemic stroke. Looking at children between the ages of 2 and 17 with a history of focal brain injury, the project will use a combination of neuropsychological testing and cross-sectional magnetic resonance imaging of the brain.

Elliott Sherr

Dr. Elliott Sherr is conducting research into genetic and other causes of a wide range of cortical malformations and neurodevelopmental disorders. These include agenesis and dysgenesis of the corpus callosum, Aicardi syndrome, polymicrogyria, periventricular nodular heterotopias, subcortical heterotopias and Dandy-Walker malformation.. As part of the investigation, he is collecting comprehensive clinical and imaging data from individuals with brain malformations, as well as blood samples from both the participants and their family members.
Contact: Brieana.Fregeau@ucsf.edu

In addition, Sherr is conducting a study to identify blood-based biomarkers for autism spectrum disorder to facilitate early identification. Looking at children 12 months and older, he is examining the biochemical data obtained from blood samples as well as neuropsychological profiles obtained through in-person testing. Sherr hopes that identifying a biomarker will lead to earlier intervention for children with autism spectrum disorders and a better response to treatment.
Contact: Talia.Berson@ucsf.edu

Sherr is currently conducting research to better understand the connection between macrocephaly and autism spectrum disorder in children between the ages of 6 and 18. This project will combine biochemistry data obtained through blood samples, neuropsychological profiles obtained through in-person testing and neurological data obtained through advanced imaging techniques. Sherr hopes his work will lead to a better understanding of which protein pathways contribute to autism spectrum disorder symptoms.
Contact: Talia.Berson@ucsf.edu

Neuromuscular Disorders

Jonathan B. Strober

Trial of FG-3019 (Pamrevlumab), a Monoclonal Antibody to Connective Tissue Growth Factor, in Non-Ambulatory Subjects with Duchenne Muscular Dystrophy

This study looks at how pamrevlumab (FG-3019), a therapeutic antibody, affects lung, heart and muscle function in nonambulatory boys with Duchenne muscular dystrophy who are on steroids. Developed by FibroGen, this antibody inhibits connective tissue growth factor. The study will determine the drug's ability to reduce patients' rate of deterioration on a lung function test called forced vital capacity. It will also evaluate safety and tolerability for pamrevlumab, which is administered intravenously every two weeks, as well as how it affects the condition.

Neuro-Oncology

Nalin Gupta

Information on Dr. Nalin Gupta's neuro-oncology research is available on the Pacific Pediatric Neuro-Oncology Consortium's website, www.pnoc.us.

Sabine Mueller

RadArt Study

RadArt is a prospective multicenter study assessing the effect of radiation on blood vessels in pediatric brain tumor patients as well as other patients treated with radiation to the head or neck. The goal is to learn more about the risk of a blood vessel injury called radiation-induced vasculopathy and stroke, as well as the risk of stroke recurrence.

7 Tesla Imaging Study

The goal of this study is to use a powerful 7 Tesla (7T) MRI scanner to better understand the effects of radiation therapy on normal-appearing brain tissue as well as cognition in children and young adults with brain tumors. Using a stronger scanner could provide doctors with higher quality data and more information on brain tumors and the effects of therapy.

Klotho Study

The Klotho Study aims to better characterize a gene called klotho in pediatric brain tumor patients, in addition to investigating the connection between klotho gene frequency and hormone levels as relates to patients' neurocognitive functioning.

Vessel Wall Imaging Study

By correlating findings on MRIs, this study aims to better characterize how radiation therapy affects blood vessels in children with brain tumors. The researchers are looking at certain biomarkers of damage and inflammation in the blood.

More information on Mueller's neuro-oncology research is available on the Pacific Pediatric Neuro-Oncology Consortium's website, www.pnoc.us.

Corey Raffel

Dr. Corey Raffel's lab investigates treating pediatric brain tumors with oncolytic viruses, or viruses that preferentially infect and kill cancer cells. The lab uses a modified measles vaccine of measles virus for oncolysis and have shown efficacy in treating both medullablastoma and atypical teratoid rhabdoid tumor (AT/RT). A phase 1 trial, which collects data on dosing and safety, recently opened based on this work. Raffel's laboratory is currently working on further modifying the virus to improve efficacy.

William Weiss

The Weiss Lab's research focuses on cancers of the nervous system in children, in particular glioblastoma, medulloblastoma and neuroblastoma. The lab studies the cells from which these tumors arise and the genetic abnormalities that drive tumors. This information allows the researchers to generate mouse models for these cancers, as well as models using normal human stem cells differentiated into appropriate cells of origin, then engineered to develop the cancers when implanted in mice. These models are used to improve understanding of how the diseases develop and to help identify new therapies.

Rehabilitation

Mitul Kapadia

Dr. Mitul Kapadia is involved in research on the use of high-resolution diagnostic imaging in the diagnosis of concussions. He is involved in various studies of rehabilitation-focused approaches to treating various disorders; these include locomotion training for spina bifida, pulmonary rehabilitation for congenital diaphragmatic hernia and constraint therapy for neonatal or intrauterine stroke. He also participates in global health projects including development of a community-based rehabilitation project in rural India and a sociodemographic analysis of preterm births in the United States and abroad.

Related Information

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Our Experts

Christine Fox
Dr. Christine Fox,
pediatric stroke neurologist
Heather Fullerton
Dr. Heather Fullerton,
pediatric stroke neurologist
Amy Gelfand
Dr. Amy Gelfand,
pediatric neurologist and headache specialist
Hannah Glass
Dr. Hannah Glass,
pediatric neurologist
Jennifer Graves
Dr. Jennifer Graves,
neurologist
Nalin Gupta
Dr. Nalin Gupta,
pediatric neurosurgeon
Mitul Kapadia
Dr. Mitul Kapadia,
pediatric physiatrist
Elysa Marco
Dr. Elysa Marco,
pediatric neurologist
Sabine Mueller
Dr. Sabine Mueller,
pediatric neuro-oncologist
William Qubty
Dr. William Qubty,
pediatric neurologist and headache specialist
Corey Raffel
Dr. Corey Raffel,
pediatric neurosurgeon
Elliott Sherr
Dr. Elliott Sherr,
pediatric neurologist
Nilika Singhal
Dr. Nilika Singhal,
neurologist and epilepsy specialist
Jonathan Strober
Dr. Jonathan Strober,
pediatric neurologist and neuromuscular specialist
Joseph Sullivan
Dr. Joseph Sullivan,
pediatric neurologist and epilepsy specialist
Amy Viehoever
Dr. Amy Viehoever,
pediatric neurologist and movement disorders specialist
Emmanuelle Waubant
Yvonne Wu
Dr. Yvonne Wu,
pediatric neurologist