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Rady Children's Specialists

Research and Clinical Trials

Questions About Clinical Trials?
Please get in touch with:
Project Manager, Janelle Celso, CCRC, Tel: 858-534-8063, or
Research Coordinator, Sophie Zacharek, Tel: 858-246-2905

The Neurology division’s research focuses on a wide range of neurological disorders. Please contact our office and reference the physician involved in the study if you are interested in learning more or have questions about our research initiatives and clinical trials.

Clinical Trials

Headache

Natalie Guido-Estrada, M.D. | Aliya Frederick, M.D., Ph.D.

1.ROAR- A clinical trial for migraine prevention in pediatric patients (Qudexy XR, a drug already approved for over 12 12-year-olds)

  • Ages 6-11 with weight between 17-50kg (~37-100 lbs)
  • Must have a diagnosis of migraine for at least the past 6 months
  • >/= 5 headaches in the prior 28 days
  • Ok to continue acute/ abortive migraine meds during the trial
  • Ok to be on preventative medication/ supplement (including botox)but treatment must be stable 28 days prior to screening and throughout the study
  • Cannot have previously failed an adequate trial of topiramate (2-3mg/kg/day for 3 months), or more than 3 prior preventative treatments
  • 26-week study with up to 9 study visit
  • *Not for patients with a constant unrelenting headache

2. Rimegepant- A clinical trial for acute treatment of pediatric migraine (Rimegepant has demonstrated safety and efficacy for migraine in adult patients). Participants in this study will be randomly assigned to receive the active study drug or a placebo to take at migraine onset.

  • Ages 6-17, weight >/= 40 kg (~88lbs)
  • 1 to 8 headaches a month for 2 months prior
  • Has had diagnosis of migraine for at least 6 months
  • May be on one ( non- anti CGRP) prophylactic medication if dose is not changed prior to or during the study
  • The study is expected to last 19 weeks and will consist of up to 4 visits to the study site

To refer a patient or get more information about either study please contact Dr. Guido-Estrada or Dr. Frederick
or our study coordinator, Sophie Zacharek at 858-246-2905
Study Location will be UCSD Altman Clinical and Translational Research Institute (ACTRI)
9452 Medical Center Dr. San Diego 92037

Epilespy

1. Momentum 1: A Multicenter, Double-blinded, Randomized, Placebo-Controlled, Parallel Group Study with Open-Label Extension Phase of Lorcaserin as Adjunctive Treatment In Subjects with Dravet Syndrome. (Olivia Kim-McManus, M.D.Mark Nespeca, M.D.)
The primary purpose of the study is to demonstrate that lorcaserin has superior efficacy compared to placebo on the percent change in frequency of convulsive seizures per 28 days in participants with Dravet syndrome. Participants will be randomized to receive lorcaserin administered as an oral suspension, twice daily for 14 weeks during the core treatment period. Dose will be based on body weight as follows: target dose for participants weighing 10 to less than (<) 20, 20 to <40, and greater than or equal to (>=) 40 kilogram (kg) will be 5, 10, and 20 milligram per day (mg/day) respectively. Based on clinical response and tolerability and within 2 weeks of treatment, dose can be increased up to 10, 20 mg/day for participants weighing 10 to <20, 20 to <40 kg respectively. Participants completing the core treatment period will enter a 12-week extension phase and will receive lorcaserin.

See full study at ClinicalTrials.gov.

2. Efficacy and Safety of Vatiquinone for the Treatment of Mitochondrial Disease Subjects with Refractory Epilepsy (MIT-E) (Richard Haas, M.D.Olivia Kim-McManus, M.D.)
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase. After completion of the randomized, placebo-controlled phase, participants may enter a 48-week, long-term, extension phase during which they will receive open-label treatment with vatiquinone.

See full study at ClinicalTrials.gov.

3. Network Analysis of Intracranial Electroencephalography (EEG) in People with Epilepsy. Olivia Kim-McManus, M.D. (UC Reliance Site Principal Investigator, UC San Diego, Rady Children’s Hospital; in collaboration with Dr. Robert Knight (UC San Francisco, UC Berkeley) and Dr. Jack Lin (UC Davis, Principal Investigator).
EEG network analysis in medically refractory epilepsy patients ages 7 years and above with non-lesional brain MRIs admitted for epilepsy surgery with intracranial monitoring with stereotactic depth electrodes and/or grids.

4. An Evaluation of the Use of Noninvasive Transcranial Magnetic Stimulation (TMS) in Patients Experiencing Hemiparesis Due to Stroke, Perinatal Injury, Epilepsy Surgery, or Tumor Resection (Shifteh Sattar, M.D.|Jonathan Bui, M.D., Ph.D.)

Rett Syndrome

Richard Haas, M.D. | Natalie Guido-Estrada, M.D.

A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Trofinetide for the Treatment of Girls and Women with Rett Syndrome (phase 3)

This multi-site study will investigate the efficacy of treatment with oral Trofinetide versus placebo in girls and women with Rett syndrome. There are 184 subjects who are expected to be randomized (with a minimum of 12 subjects randomized for each age stratum [5-10 years old, 11-15 years old, and 16-20 years old]) with a total of 92 subjects per treatment. Subjects will receive an oral dose of Trofinetide or placebo, for up to 12 weeks. Dose will be based on weight. There is also an open-label extension of this study available.

See full study at ClinicalTrials.gov.

Duchenne Muscular Dystrophy, Spinal Muscular Atrophy 

Chamindra Konersman, M.D.

1. Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients with Duchenne Muscular Dystrophy

A total of 213 male ambulant subjects will be randomised 2:1 (givinostat:placebo). Subjects will be stratified for their concomitant use of steroids in four strata: 1) Deflazacort daily regimen; 2) Deflazacort intermittent regimen; 3) Other steroids daily regimen; 4) Other steroids intermittent regimen. The study duration is planned for 19 months.

See full study at Clinicaltrials.gov.

2. Open-Label Extension for the Above Project

https://clinicaltrials.gov/ct2/show/NCT03373968?term=givinostat&draw=2&rank=4

3. AVXS-101-RG-001 A Prospective Long-Term Registry of Patients with a Diagnosis of Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.Until recently, the mainstay of treatment for these patients was supportive medical care. However, advances in medical treatment focusing on gene replacement, gene enhancement, motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options.

See full study at Clinicaltrials.gov.

Multiple Sclerosis and Neuroinflammatory Disorders

Jennifer Graves, M.D., Ph.D., M.A.S. | Jennifer Yang, M.D.

1. NEOS:
A two-year randomized, three-arm, double-blind, non-inferiority study comparing the efficacy and safety of ofatumumab and siponimod versus fingolimod in pediatric patients with multiple sclerosis followed by an open-label extension: The main purpose of the study is to find out if ofatumumab and siponimod versus fingolimod are safe and beneficial to use in children/adolescents with MS aged 10 to 17 at the start of the study. This placebo controlled study is 2 years during the double blinded part of the study (core part) and up to 5 years in the open-label-extension part of the study. It involves MRIs, blood draws, functional testing and additional visits to monitor patients.

2.  Eyetracker Study
The visual system provides an opportune and elegant window into the inflammatory and degenerative aspects of MS. We can identify precise relationships between structural damage and functional outcomes that are difficult to achieve in other aspects of nervous system injury. In this study use technologically advanced eye tracking technology to analyze eye movement in MS patients and healthy controls, to learn more about the aspects of eye movement that cannot be seen with the naked eye, and how they are related to diseases of the central nervous system.

For more information please reach out to our research coordinator at mpalomino@health.ucsd.edu, or check out our website at https://medschool.ucsd.edu/som/neurosciences/research/labs/graves/Pages/default.aspx.

3. BioAging Study
Our BioAging study investigates the association of biological aging of senescent cells and aging in multiple sclerosis patients ages 14 and up. This study aims to identify potential pathways through which relapsing forms of MS advance into progressive forms of MS. This study consists of a single blood draw, and is now actively recruiting both MS and healthy control participants.

For more information, please reach out to us at mpalomino@ucsd.edu, or find our website at https://medschool.ucsd.edu/som/neurosciences/research/labs/graves/Pages/default.aspx

Observational Studies

4. PAW
The PAW study aims to investigate physical activity and wellness in pediatric neuroimmunological diseases through the use of physical activity questionnaires. This study will continue over the coming few years and consists of a few questionnaires completed at the time of a regularly scheduled neurology visit. PAW is currently actively recruiting pediatric subjects.

5. Diet and Relapses
The Diet and Relapses study explores the connection between rate of relapse and diet through the gut microbiome and amino acids found in the digestive tract. We hope to uncover the role that 25 (OH) vitamin D levels, fat and vegetable intake, and other nutrients take in the pediatric disease course, and to investigate the biological pathways relevant to this association.

Optional: By filling out a set of questionnaires, and a small blood draw, patients can help us to further understand pediatric MS.

6. PeMSDD Database Study
PeMSDD is a database registry study linked to the Diet and Relapses study. This registry strives to describe the number and characteristics of patients with suspected early onset demyelinating disases. This database will help investigators allied with the National Pediatric MS Center to support hypothesis generation, and study design development.

7. The CONNECT Registry (CONquering Neuroimmunology and Epilepsies ConsorTium)
A multicenter prospective cohort study of the clinical features and biomarker identification for autoimmune encephalitis, Landau-Kleffner Syndrome and Rasmussen encephalitis.

Neurotransmitter Disorders

Jennifer Friedman, M.D.

1. iNTD (“International Network on Neurotransmitter related Disorders”) Registry
Major aims of the study:

  • To describe the natural history and outcome of the six neurotransmitter disorders, five BH4 deficiencies and two cerebral folate deficiencies (long-term organ-specific complications, survival rate, genotype/phenotype correlation, differences in the disease course relating to the genetic background / ethnic origin/ gender effects)
  • To describe and evaluate the efficacy and safety of current treatment strategies
  • To compare the diagnosis, treatment and management of affected individuals in different European countries.
  • To identify the major impact of a rare inherited disease for patients and their families regarding the quality of life, school education, professional career and social life

Stroke, Tuberous Sclerosis Complex, Autism 

Doris Trauner, M.D.

1. Perinatal Arterial Stroke: A Multisite RCT of Intensive Infant Rehabilitation (I-ACQUIRE) 

This is an NIH StrokeNet-funded study to test the effectiveness of constraint-induced movement therapy on improving hand us in toddlers with hemiplegia caused by perinatal stroke. Children between the ages of 8-24 months are randomized to one of 3 groups, with either 3 hours/day or 6 hours/day of intensive occupational therapy for 4 weeks or “usual and customary” treatment.

See full study at ClinicalTrials.gov.

2. Dose-Ranging Efficacy and Safety Study of Rapamycin: A Phase 2/3, Multicenter, Double-Blind, Placebo-Controlled, Randomized, Parallel-Group, Dose-Response Comparison of the Efficacy and Safety of Rapamycin for the Treatment of Facial Angiofibromas (FA) Associated with Tuberous Sclerosis Complex (TSC) in patients 6 years of age and older

Funded by AFT Pharmaceuticals

This is a double-blind study of a new formulation of rapamycin cream to treat facial adenomas associated with tuberous sclerosis. It consists of three arms, rapamycin in one of two doses or placebo. Study participants 4 years and older are included.

See full study at Clinicaltrials.gov.

Tics and Tourette Syndrome

Deanna J. Greene, Ph.D.

The purpose of this study is to learn about the brain in tic disorders. The study is seeking participants ages 7-17 years with tics, as well as those without tics, and involves four to 10 MRI scan visits along with questionnaires and interviews.