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Rady Children's Specialists

Neurology

Research and Clinical Trials

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

Dr. Richard Haas and Dr. Natalie Guido-Estrada are involved in the following studies:

1. Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms

https://clinicaltrials.gov/ct2/show/NCT02790034?term=NCT02790034&draw=2&rank=1

This is a randomized, double-blind, placebo-controlled study designed to evaluate the safety, tolerability and efficacy of multiple doses of sarizotan in patients with Rett syndrome with respiratory abnormalities. The study participants will be randomized to either sarizotan between 2 and 10 mg bid or placebo bid, based on age and weight criteria.

2. Natural History of Rett Syndrome & Related Disorders

https://clinicaltrials.gov/ct2/show/NCT02738281?term=NCT02738281&draw=2&rank=1

The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the range of clinical involvement and to correlate genotype-phenotype over a broad spectrum of phenotypes. While much has been learned about RTT, improvements are required in understanding the role of factors such as X chromosome inactivation, genetic background, and others including the environment, on the great variability observed even between individuals with the same MECP2 mutation. These data will be essential to the development and conduct of clinical trials that are anticipated from ongoing studies in animal models for RTT. This study will not include clinical trials, but should set the stage for such trials and other translational research projects (e.g., development of biomarkers).

3. A Randomized, double-blind, placebo-controlled, trial to investigate the efficacy and safety of cannabidiol oral solution (GWP42003-P, CBD-OS) in patients with Rett syndrome

This study will evaluate the efficacy of cannabidiol oral solution (GWP42003-P, CBD-OS) in reducing symptom severity when compared with placebo, in patients with Rett syndrome. The trial is recruiting a total of 252 females with Rett syndrome aged 2 to 18 years.  The trial procedures include physical exams, blood and urine sampling, PK blood sampling, ECG, caregiver questionnaires, and a weekly symptom diary completed by the caregiver. Trial subjects will have the option to continue on to an ‘open-label’ period at the end of trial. The trial will last approximately 8 months, with 3 telephone consultations and 8 in-clinic visits.

https://clinicaltrials.gov/ct2/show/NCT03848832?term=GW&cond=Rett+Syndrome&draw=2&rank=1

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

This study will investigate the efficacy of treatment with oral Trofinetide versus placebo in girls and women with Rett syndrome.184 subjects 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.

 https://clinicaltrials.gov/ct2/show/NCT04181723?term=Acadia&cond=Rett+Syndrome&draw=2&rank=1

5. A 40-Week, Open-label Extension Study of Trofinetide for the Treatment of Girls and Women with Rett Syndrome

This is a 40-week, multicenter, open-label extension (OLE) study. Subjects who complete the preceding double-blind study  will be eligible to enroll in the OLE. Study participants must be consented prior to the procedures being performed at the Week 12/end of treatment (EOT) visit of the preceding study. Procedures performed at the Week 12/EOT visit of the antecedent study will serve as the Baseline visit of this study. The study will have 2 periods: Treatment period of 40 weeks and Safety follow-up period.

Dr. Chamindra Konersman is involved in the following studies:

1. Randomized, double blind, placebo controlled, multicentre study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne Muscular Dystrophy

This is a randomised, double blind, parallel group, placebo controlled study. 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 4 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.

https://clinicaltrials.gov/ct2/show/NCT02851797?term=givinostat&recrs=ab&cond=Duchenne+Muscular+Dystrophy&draw=2&rank=1#contacts

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.

https://clinicaltrials.gov/ct2/show/NCT04174157?term=AVXS-101-RG-001&draw=2&rank=1

Dr. Jennifer Graves is involved in the following studies:

1. An Open-Label, Randomized,Multicenter, Active-Controlled, Parallel-Group Study to Evaluate the Safety, Tolerability, and Efficacy of BIIB017 in Pediatric Subjects Aged 10 to Less Than 18 Years for the Treatment of Relapsing-Remitting Multiple Sclerosis, With Optional Open-Label Extension 

This study will evaluate the safety, tolerability, and descriptive efficacy of BIIB017 in pediatric participants with relapsing-remitting multiple sclerosis (RRMS) and to assess the pharmacokinetics (PK) of BIIB017 in pediatric participants with RRMS in Part 1. In Part 2, the study will evaluate the long-term safety of BIIB017 and further describe safety and the long-term multiple sclerosis (MS) outcomes after BIIB017 treatment in participants who completed the study treatment at Week 96 in Part 1 of the study.

https://clinicaltrials.gov/ct2/show/NCT03958877?term=An+Open-Label%2C+Randomized%2C+Multicenter%2C+Active-Controlled%2C+Parallel-Group+Study+to+Evaluate+the+Safety%2C+Tolerability%2C+and+Efficacy+of+BIIB017&draw=2&rank=1

2. CHARGE (Biogen 105MS306)
CHARGE is a Biogen-sponsored clinical trial investigating the safety, tolerability and efficacy of Plegridy (BIIB017, or peginterferon beta-1a) in comparison to Avonex (interferon beta-1a) in pediatric relapsing-remitting Multiple Sclerosis for volunteers 10-17 years old. While Plegridy reduces inflammation associated with MS relapse, Avonex reduces inflammation and suppresses the immune responses which attack the central nervous system in rMS. We will follow participants for up to 45 weeks collecting data from electrocardiograms (ECG), blood tests, MRI scans and questionnaires.

More information on this study can be found at https://clinicaltrials.gov/ct2/show/NCT03958877?recrs=a&cond=Multiple+Sclerosis&lead=biogen&age=0&draw=2&rank=2.

With any questions, please reach out to our Neuroimmunology and MS Research Program coordinator at mpalomino@health.ucsd.edu, or see our website at https://medschool.ucsd.edu/som/neurosciences/research/labs/graves/Pages/default.aspx.

3.  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.

4. 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

Dr. Jennifer Friedman is involved in the following studies:

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

Dr. Doris Trauner is involved in the following studies:

1. Perinatal Arterial Stroke: A Multi-site 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.

https://clinicaltrials.gov/ct2/show/NCT03910075?term=Perinatal+Arterial+Stroke%3A+A+Multi-site+RCT+of+Intensive+Infant+Rehabilitation&draw=2&rank=1

2. Dose-ranging efficacy and safety study of rapamycin: A Phase 2/3, multi-center, 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 over

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 3 arms, rapamycin in one of 2 doses or placebo. Study participants 4 years and older are included.

https://clinicaltrials.gov/ct2/show/NCT03826628?term=safety+of+rapamycin+for+the+treatment+of+facial+angiofibromas+%28FA%29+associated+with+Tuberous+Sclerosis+Complex+%28TSC%29+in&draw=2&rank=1

3. A double-blind, crossover trial of cannabidiol to treat severe behavior problems in children with autism

This is a double-blind, cross-over design trial for boys ages 7-14 years with autism and severe behavioral problems. The two treatment arms are cannabidiol (CBD) and placebo. Each child will receive both placebo and CBD in different arms. Each arm is 8 weeks long with a 4-week washout period between arms.

4. Sleep disturbance and memory function in nephropathic cystinosis and chronic renal disease

Funded by the Cystinosis Research Foundation

This study assesses the prevalence of sleep disorders in adults with nephropathic cystinosis and chronic renal disease, and the effect of sleep disorders on memory functions in those individuals.

5. Outcomes of perinatal stroke

Unfunded, student research project (Bridget MacDonald, UC San Diego MS2)

This study explores the role of neonatal EEG in predicting developmental outcome in infants with perinatal stroke.

Dr. Dillon Chen is leading in the following research initiatives:

1. Understanding the roles of polysialic acid and Sialic acid-binding immunoglobulin-type lectins (Siglecs) in the developing brain and how they affect neuro-injury and neuro-inflammation 

Perinatal and neonatal brain injury often leads to long-term morbidity including neurodevelopmental impairment. Understanding the effects of injury during these critical periods of brain development may result in improved morbidity and mortality for infants with brain injury. One of the most fundamental building blocks of the brain is the sialic acid and a major protein-bound sialic acid in the brain is polysialic acid (polySia). The goals of the project are to characterize and explore the functions and expression levels of polySia, Siglec-11 and Siglec-16 in the developing brain, especially in the setting of neural injury.

2. A simple method to detect neurologic disease in neonates

https://www.thrasherresearch.org/grant/15161?lang=eng