Outpatient – Pediatric

PI: Limbrick

Protocol ID: 201904099-1001

Short study title: Genetics of Chiari Malformation

Short description: The purpose of this study is to perform genetic testing on patients and their relatives with Chiari I malformations in order to understand disease progression, disease biology, and help to develop newer therapies.

Key eligibility criteria:

• Any sex, any age
• Patients with a diagnosis of Chiari I malformation (with and without syringomyelia), defined as >= 5mm tonsillar herniation on radiological imaging or report
• Biological relatives of patients with Chiari I malformation
• Participants willing to undergo genetic testing which includes any or all of the following: blood, saliva, urine, cheek swab, other tissue

Contact person: Tim Kuensting, 314-273-7997, tkuensting@wustl.edu; Gabriel Haller, 314-273-7997, ghaller@wustl.edu

Enrollment period: Current

PI: Limbrick

Protocol ID: 201906065

Short study title: Advanced Imaging of Chiari Malformation

Short description: While structural MRI is useful in the diagnosis and workup of Chiari malformation, advanced imaging may offer additional information previously not recognized by traditional imaging methods. The purpose of this study is to use advanced MRI techniques, pioneered by Washington University, to assess the relationship between structure and function of brain structures in Chiari malformation. These techniques include diffusion scans and resting state functional MRI. These methods might allow better understanding of the development of symptoms, syringomyelia, and other pathologies of the craniocervical junction.

Key eligibility criteria:

• Any sex, any age
• Patients with a diagnosis of Chiari I malformation (with and without syringomyelia), defined as >= 5mm tonsillar herniation on radiological imaging or report
• Participants undergoing un-sedated MRI scan ordered for clinical purposes and are willing to undergo an additional 15 minutes of scanning

Contact person: Diego Morales, 314-454-4688, d.morales@wustl.edu

Enrollment period: Current

PI: Limbrick

Protocol ID: 201011724

Short study title: The Park-Reeves Syringomyelia Research Consortium

Short description: There are large gaps in our current understanding of Chiari malformations and syringomyelia. The purpose of this study is to learn more about the underlying causes, natural history, and optimal treatment by identifying patients and continuing to collect data over a 5 year period of time.

Key eligibility criteria:

• Any sex, age 21 years and younger
• Diagnosis of Chiari malformation with syringomyelia

Contact person: Diego Morales, 314-454-4688, d.morales@wustl.edu

Enrollment period: Current

PI: Limbrick

Protocol ID: 201511126

Short study title: Advanced MR Imaging in Congenital Hydrocephalus

Short description: Washington University is a pioneer in developing advanced MR imaging techniques, which have helped to provide new insight into the brain’s structure and function. However, these techniques have rarely been used in pediatrics. Brain development and abnormalities associated with congenital diseases are largely unexplored in the setting of advanced MR imaging. The goal of this study is to use advanced MR imaging to better understand brain development in the setting of congenital hydrocephalus.

Key eligibility criteria:

• Any sex, age 17 years and younger
• Diagnosis of congenital hydrocephalus
• Patient scheduled to undergo surgery for hydrocephalus and a clinically indicated MRI before treatment
• Patients able to undergo two sessions of an MRI (30 minutes each). The first session will be either in the same setting as the clinically indicated pre-operative MRI or in a separate setting. The second will be after the surgery and before hospital discharge. Sedation will not be used in research-only MRIs.

Contact person: Diego Morales, 314-454-4688, d.morales@wustl.edu

PI: Limbrick

Protocol ID: 202002124

Short study title: Pediatric Neurosurgery Tissue Bank

Short description: The purpose of the Pediatric Neurosurgery Tissue Bank is to collect and store tissue samples from patients undergoing surgery. These samples include benign and malignant brain/spine tumors, normal/abnormal brain tissue, cerebrospinal fluid (CSF), bone, blood samples, and other related tissues. Specimens will be collected from the operating room or specialized procedure room in which said tissue is removed. Biological parents and siblings are also eligible to donate blood samples. Data from this tissue bank will be used to better understand disease progression, disease biology, generate realistic animal models of disease, and help to develop newer therapies.

Key eligibility criteria:

• Any sex, any age
• Patients scheduled to undergo surgical resection for brain/spinal tumor, seizure focus, or brain malformation
• Biological parents and siblings are also eligible to donate blood samples
• Patients at end-of-life are eligible to participate through the Legacy Brain Donation Program

Contact person: Diego Morales, 314-454-4688, d.morales@wustl.edu

Enrollment period: Current

PI: Limbrick

Protocol ID: 202002124

Short study title: MRI Predictors of Response to Vagal Nerve Stimulation

Short description: Patients with medically refractory epilepsy may be candidates for vagal nerve stimulation (VNS), which are implanted devices that alter the brain’s excitability and thereby decrease seizure frequency. However, it is not clear which patients will respond well to vagal nerve stimulation and will have an improved quality of life after surgery. The aim of this study is to analyze brain MRI scans for patients before and after surgery and to collect information relating to seizure frequency and quality of life in order to better identify patients who might benefit from this treatment.

Key eligibility criteria:

• Any sex, any age
• Patients undergoing VNS therapy

Contact person: Diego Morales, 314-454-4688, d.morales@wustl.edu

Enrollment period: Current