The Neurology division’s research focuses on a wide range of neurological disorders. The clinical trials below are represented below in alphabetical order by condition. 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.
Duchenne Muscular Dystrophy & Spinal Muscular Atrophy
- Novartis AVXS‑101‑RG‑001 – A Prospective Long-Term Registry of Patients with a Diagnosis of Spinal Muscular Atrophy. Active – Enrolling.
- PIERRE – Safety and Performance of the ThecaFlex DRx™ System Port and Catheter for Chronic Intrathecal Access, Cerebrospinal Fluid (CSF) Aspiration, and DElivery of Nusinersen in Spinal Muscular Atrophy (SMA) Patients Resistant to Lumbar PunctuRE (PIERRE) Trial. Active – Enrolling.
- ASCEND (INS1201‑101) – A Phase 1, Multicenter, Open-label Study to Investigate the Safety and Biodistribution of a Single Intrathecal Injection of INS1201 in Ambulatory Males with Duchenne Muscular Dystrophy (NCT06817382). Upcoming.
- COMPASS (SRP‑9005‑101) – A Seamless Phase 1/3, Multicenter, Single Dose Systemic Gene Transfer Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9005 in Limb Girdle Muscular Dystrophy Type 2C/R5 Subjects (NCT06952686). Upcoming.
- SGT‑003‑101 (INSPIRE) – A Phase 1/2, Multicenter, Open-Label Study to Investigate the Safety, Tolerability, and Efficacy of a Single Intravenous Dose of SGT-003 in Ambulant Males with Duchenne Muscular Dystrophy (NCT06138639). Upcoming.
- AOC 1044 CS2 (EXPLORE44 OLE) –A Phase 2, Open-label Study to Evaluate the Pharmacodynamics and Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping (NCT06244082). Enrollment Closed.
- EMERGENE (SRP‑9003‑301) – A Phase 3 Multinational, Open-label, Systemic Gene Delivery Study to Evaluate the Safety and Efficacy of SRP-9003 in Subjects with Limb Girdle Muscular Dystrophy 2E/R4 (NCT03652259). Enrollment Closed.
- ONYX (SRK‑015‑004) – An Open-Label, Multicenter, Extension Trial to Evaluate the Long-Term Safety and Efficacy of Apitegromab in Patients with Type 2 and Type 3 Spinal Muscular Atrophy Who Completed Previous Investigational Trials of Apitegromab (NCT05626855). Enrollment Closed.
- EXPEDITION (SRP‑9001‑305) – A Phase 3, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical Study. Enrollment Closed.
- HOPE‑3 (CAP‑1002‑DMD‑04) – A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Human Allogenic Cardiosphere-derived Cells for the Treatment of Duchene Muscular Dystrophy (NCT05126758). Enrollment Closed.
- RESILIENT (BHV2000‑301) – A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants with Spinal Muscular Atrophy with Open-Label Extension (NCT05337553). Enrollment Closed.
- DELIVER (DYNE251‑DMD‑201) – A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending Dose Study Assessing Safety, Tolerability, Pharmacodynamics, Efficacy, and Pharmacokinetics of DYNE-251 Administered to Participants with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping (NCT05524883). Enrollment Closed.
Epilepsy
- Network Analysis EEG – EEG network analysis in medically refractory epilepsy patients ages 7 years and above with non-lesional brain MRIs and epilepsy surgery evaluations with intracranial monitoring by stereotactic depth electrodes and/or grids. Active – Enrolling.
- PRAXIS ASO 222 (EMBRAVE 3) – A Randomized, Multi-Center, Double-Blind, Sham-Procedure Controlled Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A. Active – Enrolling.
- TUBB4A ASO – Investigator‑initiated antisense oligonucleotide treatment for TUBB4A‑related leukodystrophy. Active – Enrolling.
- UCB Staccato DEE inhaled abortive (Epo162) – A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Outpatient, Parallel-Group Study to Assess the Efficacy and Safety of Staccato Alprazolam in Study Participants 12 years of Age and Older with Stereotypical Prolonged Seizures. Active – Enrolling.
- UCB Staccato DEE inhaled abortive/OLE (Ep0165) – An Open-Label, Multicenter, Outpatient Extension Study To Evaluate The Safety And Tolerability Of Staccato Alprazolam In Study Participants 12 Years Of Age And Older With Stereotypical Prolonged Seizures. Active – Enrolling.
- The CONNECT Registry (Repository) – CONquering Neuroimmunology and Epilepsies ConsorTium prospective cohort study. Upcoming.
- PRAXIS oral small molecule DEE (EMERALD) – This Phase 3 multicenter, double-blind, randomized, placebo-controlled clinical trial, followed by an open-label extension, is designed to explore the efficacy, safety, tolerability, and pharmacokinetics of relutrigine when administered to participants who have seizures associated with DEEs. Upcoming.
- SCN2A ASO – CIRM – This is an investigator-initiated, open-label, single center, single participant (n=1) clinical trial of a personalized investigational antisense oligonucleotide (ASO) drug (nL-SCN2A-002) for SCN2A associated neurological disorder (NCT06314490). Enrollment Closed
- Pediatric Epilepsy Research Consortium Genetic Epilepsy Database – Active – Enrolling.
- Pediatric Epilepsy Research Consortium Epilepsy Surgery Database – Active – Enrolling.
Genetic, Metabolic & Leukodystrophies
- MPOWER – Prospective mitochondrial and genetic white matter disease registry. Active – Enrolling.
- GLIA‑CTN – Rare Diseases Clinical Research Network: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network. Upcoming. Study Details
Headache and Migraine
- ROAR – A clinical trial for migraine prevention for 6-11 year old pediatric patients. The drug Qudexy XR has already been approved for ages 12 and up.
Natalie Guido-Estrada, M.D. | Aliya Frederick, M.D. Closed.
- Therapeutic trial, Phase 3, multicenter, randomized, double-blind, group sequential, placebo-controlled study to assess efficacy and safety of rimegepant for the treatment of migraine (with or without aura) in children and adolescents > 6 to < 18. Principal Investigator Aliya Frederick, M.D., Ph.D. | Sub-Investigator: Natalie Guido-Estrada, M.D. Active – Enrolling.
- Therapeutic trial, Phase 3, multicenter, open-label study to assess the long-term safety and tolerability of rimegepant for the acute treatment of migraine (with or without aura) in children and adolescents > 6 to < 18. Principal Investigator Aliya Frederick, M.D., Ph.D. | Sub-Investigator: Natalie Guido-Estrada, M.D. Active – Enrolling.
- Therapeutic trial, An interventional, efficacy, and safety, phase 3 randomized, double-blind, placebo-controlled study with an open-label extension to investigate rimegepant in migraine prevention in adolescents 12 to less than 18 years of age with chronic migraine. Principal Investigator Aliya Frederick, M.D., Ph.D. | Sub-Investigator: Natalie Guido-Estrada, M.D. Upcoming
Landau-Kleffner Syndrome and Rasmussen Encephalitis
- CONNECT Registry A multicenter prospective cohort study of the clinical features and biomarker identification for autoimmune encephalitis, Landau-Kleffner Syndrome and Rasmussen encephalitis. Active – Enrolling.
Leigh Syndrome
- Leigh Syndrome Roadmap Project (LSRP) – Natural history study. Richard Haas, MD | Jennifer Yang, MD Active – Enrolling.
Mitochondrial Disease
- NAMDC – North American Mitochondrial Disease Consortium patient registry and biorepository. Active – Enrolling.
- Mitochondrial Mechanisms – Laboratory studies on mitochondrial disease. Active – Enrolling.
- 4D Microscopy – Studying mitochondrial dynamics in organoids derived from fibroblast‑derived stem cells. Active – Enrolling.
- Abliva (KL1333) – An interventional, randomized, double-blind, parallel-group, placebo-controlled, flexible-dose, adaptive study of the efficacy of KL1333 in adult patients with primary mitochondrial disease. Richard Haas, M.D. | Jennifer Yang, M.D. (NCT05650229). Active – Enrolling.
- Tisento (zagociguat) – Phase 2b randomized, double-blind, placebo-controlled crossover study evaluating the efficacy and safety of zagociguat in participants with MELAS (PRIZM) Richard Haas, MD | Jennifer Yang, MD (NCT06402123). Active – Enrolling.
Multiple Sclerosis, Neuroinflammation & Neuroimmunology
Jennifer Graves, M.D., Ph.D., M.A.S.
- HORIZON (Interventional) – An Open-label Multicenter Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Inebilizumab in Pediatric Subjects with Neuromyelitis Optica Spectrum Disorder (NCT05549258). Active – Enrolling. Study Details
- MOGAD (Interventional) – T cell recognition of autoantigens in MOG antibody‑associated disease. Active – Enrolling.
- TRAC Peds MS (Repository) – The Repository of Advanced Clinical metrics in Pediatric Multiple Sclerosis. Active – Enrolling.
- PeMSDD Database Study (Repository) – A multicenter prospective cohort study of the clinical features and biomarker identification for autoimmune encephalitis, Landau-Kleffner Syndrome and Rasmussen encephalitis. Active – Enrolling.
- MS Exercise (Interventional) – Exercise Training Intervention for Depressive Symptoms in Youth with MS: A Randomized Controlled Feasibility Trial. This trial is of a 20-week home based exercise intervention. (NCT06870968). Upcoming. Study Details
- CIELO (Interventional) – Satralizumab for anti‑NMDAR or anti‑LGI1 encephalitis. Closed.
- OPERETTA 2 (Interventional) – A phase III multicenter, randomized, Double-blind, double-dummy study to evaluate safety and efficacy of Ocrelizumab in comparison with Flingolimod in children and adolescents with relapsing-remitting MS (NCT05123703). Closed.
- NEOS (Interventional) – A 2-year randomized, 3-arm, double-blind, non-inferiority study comparing the efficacy and safety of oftatumumab and siponimod verses fingolimod in pediatric patients with MS followed by an open label extension (NCT04926818). Closed.
- DCAC (Repository) – Pediatric Multiple Sclerosis and other Demyelinating Diseases Database. This study aims to describe the number and characteristics of patients with suspected early onset of demyelinating disease. To provide this data to NPMSC Investigators to support hypothesis generation and study design development for clinical trials and observational studies to be carried out by the NPMSC. Closed.
- Peds RESPECT (Repository) – Pediatric retrospective review of multiple sclerosis and autoimmune CNS diseases. Closed.
- Diet & Relapse (Observational) – Exploring the connection between relapse rates and diet in pediatric MS. Closed.
- Eyes Tracker Study (Observational) – 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. Closed.
- BioAging Study (Observational) – Examining biological aging and progression from relapsing to progressive MS. Closed.
- PAW (Observational) – 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. Closed.
Multiple Sclerosis and Neuroimmunology
- MINERVA – A cross-sectional study on the impact of health disparities on neuropsychological outcomes in anti-NMDAR encephalitis compared to pediatric MS. Active – Enrolling.
Neuromuscular Disorders
- Noninvasive TMS – 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. Active – Enrolling.
Neurotransmitter Disorders
- iNTD Registry – International Network on Neurotransmitter‑related Disorders registry tracking the natural history, treatment and outcomes of six neurotransmitter disorders and related deficiencies.
Rett Syndrome
- Interventional study/Gene Therapy – REVEAL 101 Pediatric Study: Adult Study:An Open-label, Dose-escalation and Dose-expansion Study of the Safety and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, in the Treatment of Females ≥6 to ≤22 years of age with Rett Syndrome. Sub-Investigators: Natalie Guido-Estrada, M.D. | Olivia Kim-McManus, M.D. | Gail Reiner, DNP Active – Enrolling.
- Taysha (TSHA‑102 gene therapy) – REVEAL Adult Study: An Open-label, Randomized, Dose- escalation- and Dose-expansion Study of the Safety and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, in the Treatment of Adult Females with Rett Syndrome. (NCT05606614). Active – Enrolling.
- LAVANDER – A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Trofinetide for the Treatment of Girls and Women with Rett Syndrome (phase 3) Richard Haas, M.D. | Natalie Guido-Estrada, M.D. Closed.
- Observational Registry – IRSF Sponsored Rett Registry. Rett Syndrome Real World Data Observational Registry. Any patient with a genetically confirmed diagnosis of Rett syndrome is eligible to enroll. Involves annual collection of clinical data regarding Rett Syndrome history and symptoms and caregiver questionnaires. Natalie Guido-Estrada, M.D. Active – Enrolling.
Stroke, Tuberous Sclerosis Complex & Autism
- I‑ACQUIRE – Perinatal arterial stroke randomized trial of intensive infant rehabilitation. ClinicalTrials.gov. – Enrollment Closed.
- Rapamycin Dose‑Ranging Study – Phase 2/3 study evaluating topical rapamycin for facial angiofibromas in TSC (NCT03826628). ClinicalTrials.gov. – Closed.
Tics & Tourette Syndrome
- Brain Research on Tics & Tourette Syndrome – MRI‑based study of brain structure and function in tic disorders. Active – Enrolling. View Flier.
- Multimodal Profiling of Response to Pediatric Comprehensive Behavioral Intervention for Tics – A clinical trial investigating markers for treatment response to CBIT. Active – Enrolling View Flier.