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National Clinical Research Award, Vitamin D and Obesity, Modern Healthcare Women Leaders, Mitochondrial Disorder Drug, Predicting Sepsis

Published on March 11, 2019 in Cornerstone Blog · Last updated 4 months ago


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Last week marked International Women’s Day (March 8), and while we recognize the remarkable women in science and healthcare at the Research Institute every day of the year, it seems especially fitting that this news roundup features some of those role models as they receive accolades and awards. Hematology researcher, Lindsey George, MD, was honored for her breakthrough work in developing a gene therapy for hemophilia B, while our CEO and President, Madeline Bell, ranked on the Top 25 Women Leaders list by Modern Healthcare. Meanwhile, in other news, researchers published findings on obesity and vitamin D, the use of machine learning for early sepsis detection, and a promising drug to treat some mitochondrial disorders.

Hematology Scientist Recognized for Hemophilia B Clinical Research 

The Clinical Research Forum recognized our own Lindsey George, MD, attending physician in the Division of Hematology at Children’s Hospital of Philadelphia, as a recipient of their 2019 National Clinical Research Achievement Award. The award recognizes the 10 most outstanding clinical research accomplishments in the United States during the preceding 12 months. Dr. George received the honor for her work leading the first gene therapy trial to report a clinical cure for hemophilia B, a hereditary bleeding disorder. The treatment, which we described on Cornerstone last year, involves a bioengineered, one-dose intravenous gene therapy that produces a clotting factor to safely and effectively stop bleeding in male patients with hemophilia B. Dr. George and her team described their research in the New England Journal of Medicine.

Learn more in the Penn Medicine press release.

Madeline Bell Recognized for Outstanding Leadership 

CEO and President of CHOP, Madeline Bell, was named one of Modern Healthcare magazine’s 2019 Top 25 Women Leaders, an award program that recognizes women healthcare executives who are leading change across the country. Bell was recognized for her work expanding CHOP’s geographic footprint and commitment to nurturing workplace diversity. Modern Healthcare previously recognized Bell in 2017 as one of the “100 Most Influential People in Healthcare,” a program which recognizes individuals “deemed by their peers and the senior editors of Modern Healthcare to be the most influential individuals in the industry.”

Learn more in CHOP News.

New Preclinical Findings Explore Potential Treatment for Mitochondrial Disorders

Mitochondrial Medicine scientists at CHOP are at the early stages of investigating the therapeutic potential of an existing drug that could benefit some patients with mitochondrial disorders. Future clinical research is needed to explore whether the drug, cysteamine bitartrate, administered at the proper dosage could be neuroprotective.

“Overall, treatment effects we observed in both cell and animal models of mitochondrial RC (respiratory chain) disease suggest that cysteamine bitartrate might have the potential to improve overall health and stress resiliency in human patients,” said Marni Falk, MD, executive director of CHOP’s Mitochondrial Medicine, a Frontier Program. “However, we also showed that this drug has a narrow therapeutic window — even small increases in dosage were toxic in diverse laboratory animals and human cells. This implies that dosages would need to be very carefully controlled if cysteamine bitartrate eventually were to become a precision medicine treatment option for mitochondrial disease patients.”

The Food and Drug Administration already has approved cysteamine bitartrate to treat a rare kidney disease called nephropathic cystinosis.

Dr. Falk and colleagues have been systematically evaluating a variety of drug candidates in search of possible treatments for mitochondrial RC disease, complex conditions with severe energy deficiency for which no proven effective treatments exist.

The study team published its findings in Human Molecular Genetics. For more details, see CHOP’s press release.

New Study Finds Vitamin D Supplementation Less Effective in Obesity

Lower levels of vitamin D, a key vitamin for helping our bodies build strong bones and teeth, has previously been linked with obesity. In a paper recently published in the Journal of Bone and Mineral Research, researchers from our Division of Endocrinology and Diabetes at CHOP reported new findings about the potential biological mechanisms by which vitamin D supplementations become less effective when obesity is present. Led by Jeffrey Roizen, MD, PhD, FAAP, attending physician at CHOP, the researchers found that obese mice showed low levels of the liver enzyme that converts vitamin D into its major form in the blood, 25-hydroxyvitamin D (calcidiol).

“Our observations show that this early step in activating vitamin D is influenced by obesity, and suggest that obesity-related effects on the liver can have clinically important systemic effects on bone and mineral metabolism,” Dr. Roizen told Wiley in a news brief. “Further, while we often think of low vitamin D causing obesity, this work shows that an illness or pathology (like obesity) can cause low vitamin D.”

Read the study abstract online.

Study Team Tests Machine-learning Models’ Accuracy in Predicting Sepsis in Infants

CHOP biomedical informatics specialists collaborated with their NICU colleagues to test machine-learning models’ ability to recognize sepsis in infants. Rapid diagnosis of sepsis is often difficult in hospitalized infants, due to ambiguous clinical signs and inaccuracies in screening tests.

The team based their study on routinely collected data available in electronic health records (EHR) from 618 infants treated in CHOP’s NICU from 2014 to 2017. They compared how well eight machine-learning models analyzed the EHR data to predict whether or not an individual patient was found to develop sepsis.

Six of the eight models performed well in accurately predicting sepsis up to four hours before clinical recognition of the condition. Further research to refine these models could lead to development of a real-time clinical decision support tool to help improve critically ill infants’ outcomes.

“Because early detection and rapid intervention is essential in cases of sepsis, machine-learning tools like this offer the potential to improve clinical outcomes in these infants,” said first author Aaron Masino, PhD, who led the study team’s machine-learning efforts. Dr. Masino is an assistant professor in the Department of Anesthesiology and Critical Care Medicine and a member of the Department of Biomedical and Health Informatics at CHOP. “Follow-up clinical studies will allow researchers to evaluate how well such systems perform in a hospital setting.”

The research team published its findings from the retrospective case-control study in PLOS One. See CHOP’s press release for more details.


Catch up on our headlines from our Feb. 22 edition of In the News:

  • Sleep Problems More Prevalent in Young Children With Autism
  • Opioids Overprescribed for Common Childhood Bone Fracture
  • CHOP’s Food Pantry Combats Food Insecurity for Philadelphia’s Children
  • Opinion: Combat Gun Violence With Government-Funded, Data-Driven Research
  • CHOP Researcher Receives Proof-of-Concept Award from Science Center
  • Specialized Lung Cells Appear Early in Fetal Development 

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