Barrow Neurological Institute at Phoenix Children’s Research

Under the leadership of site Principal Investigator, Michael Kruer, MD, Phoenix Children’s serves as a genomics hub for the Cerebral Palsy Research Network, a national consortium of over 30 leading centers dedicated to CP research and care. The networks aims to establish gold standards for CP diagnosis, treatment and care by using shared data from the participating centers. These efforts combine multidimensional phenotyping with innovative clinical trial designs to improve outcomes for children with CP.

Funded by a grant from the National Institutes of Health (NIH), this study examines recessively inherited CP, which accounts for approximately one-third of genetic CP cases. In these instances, neurologically healthy carrier parents pass down a mutated gene to their child, who inherits a defective copy of the gene from both their mother and father. This global research initiative includes families throughout the world, including Africa, the Middle East and Southeast Asia, aiming to identify CP-associated genes that exhibit recessive inheritance. The insights gained from these discoveries have the potential to improve CP diagnosis and care by bringing molecular insights to the CP community.

This study employed in vivo ultrasound imaging to examine central and cerebral vasculature in 6- and 12-month-old mice from a Marfan syndrome (MFS) model as well as C57BL/6 control mice. The findings highlight the significance of biological sex in vascular function and structure in MFS mice, revealing a trend toward premature vascular aging. This phenotype in MFS mice mirrors characteristics observed in older, healthy controls.

This research investigated behavioral and inflammatory outcomes in a drosophila model of TBI. The model demonstrated sexually dimorphic decreases in brain immune markers post-TBI. While young female and male Drosophila exhibited similar acute neurological responses, post-TBI motor behavior deficits differed between sexes. Markers of oxidative stress, including Drosophila nitric oxide synthase (dNOS) expression, protein tyrosine nitration, hydrogen peroxide levels and basal levels of autophagy, were all altered in response to injury, with more pronounced effects observed in female flies.

Phoenix Children’s is currently the only site within the United States engaged in this open-label multicenter study examining the safety, tolerability and pharmacokinetics of Nipocalimab in children and adolescents with generalized myasthenia gravis (gMG). The study also measures the impact of Nipocalimab on total serum immunoglobulin G (IgG) levels.

The ONYX study is an open-label extension trial to evaluate the long-term safety and efficacy of apitegromab. It includes patients with Type 2 and Type 3 spinal muscular atrophy (SMA) who have completed the TOPAZ or SAPPHIRE studies. Currently, Phoenix Children’s is the largest site within the Southwest that cares for patients with SMA.

Myostatin is a known inhibitor of muscle growth, and blocking its activity has been shown to increase muscle size and function. Taldefgrobep alfa, which directly blocks myostatin activity has been well tolerated in previous clinical studies and is being evaluated for its efficacy and safety in patients with SMA.

HOPE-3 is a multi-center, double-blind, placebo-controlled clinical trial evaluating the safety and efficacy of CAP-1002, a cell therapy that uses human allogeneic cardiosphere-derived cells. The study includes boys or young men with Duchenne muscular dystrophy (DMD) who exhibit impaired skeletal muscle function. Participants, both ambulatory and non-ambulatory, are randomly assigned to receive either CAP-1002 or a placebo through intravenous infusion every three months over a 12-month period. Following this phase, all participants are eligible to receive CAP-1002 for an additional 12 months as part of an open-label extension phase.

This study funded by the Patient-Centered Outcomes Research Institute (PCORI) aims to compare the effectiveness of a combined intervention of amitriptyline and cognitive behavioral therapy (CBT) via telehealth versus CBT alone in children aged 10-17 years with a migraine disorder. Participants are randomized to receive either the combined intervention or CBT alone, with sessions conducted remotely (by telehealth) by a psychologist from Cincinnati Children’s Hospital Medical Center.

This study investigates the safety and tolerability of cenobamate in pediatric patients 2–17 years of age with partial-onset (focal) seizures.

Phoenix Children’s participates in a large multicenter pediatric neurocritical care research database that collects electroencephalography (EEG) data from pediatric patients in the ICU. This project works to facilitate innovative EEG research that can improve care and outcomes for critically ill children.

This NIH-sponsored interventional study focuses on improving treatment for focal cerebral arteriopathy (FCA) in children by comparing the effectiveness of two corticosteroid treatment strategies. Patients diagnosed with stroke due to FCA are randomized to either immediate treatment with corticosteroids or the selective treatment with corticosteroids for patients who show disease progression. The FOCUS Trial aims to identify the most effective treatment method to improve outcomes and reduce the severe effects of FCA, including stroke recurrence and associated neurological impairments.

Phoenix Children’s participates in the International Pediatric Stroke Study (IPSS), the world’s largest and most successful childhood stroke registry. IPSS includes a network made up of dedicated clinicians, scientists and research staff from over 100 institutions in 34 countries. Since 2003, they have prospectively enrolled over 8,000 patients in an effort to conduct high-quality clinical and imaging research studies.

The purpose of this study is to determine efficacy of guanfacine immediate release (GIR) for the treatment of hyperactivity/impulsivity and inattention in children with Down syndrome. Eligible participants meeting study criteria are randomized to receive either GIR or a placebo for eight weeks. Parents rate their child’s hyperactivity over the course of the study.

FORWARD-MARCH builds on the FORWARD project, which started in 2012, by collecting detailed information from participants with Fragile X Syndrome (FXS) to add to the existing FORWARD database. The FORWARD-MARCH project collects survey data from parents and caregivers and conducts several tests with participants to understand their cognition (thinking), language, behavior and autism characteristics. FORWARD-MARCH continues the mission of better understanding FXS in order to improve the lives of children and adolescents with FXS and the lives of their families.