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Kidney Innovation Center, Adolescent Concussion, Beta Thalassemia, Exercise Intolerance

Published on September 2, 2022 in Cornerstone Blog · Last updated 4 months 3 weeks ago


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mccannn [at] (By Nancy McCann)

Relax and enjoy this Labor Day weekend with a roundup of research news from Children’s Hospital of Philadelphia. Read about the newly launched Penn-CHOP Kidney Innovation Center, and the FDA’s approval of the first potentially curative gene therapy for beta thalassemia. Learn about the risk of depressive symptoms immediately following a concussion, and a preliminary study of a vitamin treatment that may alleviate exercise intolerance caused by mitochondrial impairment.

Michelle Denburg, MD, MSCE

Michelle Denburg, MD, MSCE

CHOP, Penn Launch Kidney Innovation Center to Improve Treatment Across the Lifespan

In an effort to improve the lives of children and adults with kidney disease, CHOP and the University of Pennsylvania are jointly launching the Penn-CHOP Kidney Innovation Center. The first-of-its-kind center will advance research to transform patient care through a cooperative bench-to-bedside, big data approach to precision medicine, focusing on early detection, prevention, and treatment of kidney disease and its complications.

“By bringing pediatric and adult kidney researchers under one umbrella, we will accelerate the pace of discovery for both populations,” said co-director Michelle Denburg, MD, MSCE, director of Research for CHOP’s Division of Nephrology and an associate professor of Pediatrics and Epidemiology at Penn. “Some processes of kidney disease are shared in adults and children, and others are unique, but in both cases, promoting crosstalk between researchers can shed light on mechanisms of disease for both children and adults and lead to precise diagnostics and treatments.”

Scientists in the Kidney Innovation Center will investigate the molecular pathways, genetics, and biochemistry involved in kidney disease and identify targets for potential therapies, by combining their expertise in epidemiology, biostatistics, bioinformatics, computational biology, genetics, pathology, physiology, biochemistry, immunology, genomics, pharmacology, psychology, and education.

Co-director Katalin Susztak, MD, PhD, a professor of Nephrology and Genetics at the Perelman School of Medicine at the University of Pennsylvania, said, “This center will draw from experts across both institutions, using interdisciplinary collaboration as the driving force to accelerate research that improves the health and well-being of all patients with kidney disease.”

The Center also will host an Annual Kidney Life Course Research Symposium, regular meetings, journal clubs, and shared resources.

Learn more.

Catherine McDonald, PhD, RN, FAAN

Catherine McDonald, PhD, RN, FAAN

Study Supports Depression Screening as Regular Component of Concussion Care

Researchers from CHOP and the University of Pennsylvania School of Nursing have shown that adolescents reported elevated depressive symptoms in the period immediately following a concussion. Their findings, published in the journal of Sports Health, underscore the need for more comprehensive screening soon after injury to provide adolescents mental and behavioral health support.

The team collected data from 282 adolescents (111 concussed, 171 nonconcussed), 13 to 18 years of age, who completed assessments for depression and anxiety from the Patient-Reported Outcome Measurement Information System (PROMIS). The concussed cohort included patients who presented with a concussion diagnosis within 28 days of injury to CHOP Minds Matter Concussion Program clinic. Non-concussed participants were volunteers from a private suburban high school. The results showed nearly 1 in 3 adolescents reported elevated symptoms of depression in the first four weeks after concussion, highlighting that many concussed adolescents met the threshold for above-average symptoms on the depression and anxiety PROMIS measures.

“Our study found that a meaningful number of kids report depressive symptoms when we screened for them within the first month of a concussion injury,” said senior study author Catherine McDonald, PhD, RN, FAAN, a pediatric nurse scientist and senior fellow with CHOP’s Center for Injury Research and Prevention. “It is important that frontline providers regularly screen for depression as a component of concussion care.”

See this CHOP press release for study details.

Alexis Thompson, MD, MPH

Alexis Thompson, MD, MPH

First Potentially Curative Gene Therapy for Beta Thalassemia Approved by FDA

CHOP was a leading study site in the clinical trials that led to the Food and Drug Administration’s approval of the first potentially curative gene therapy for the treatment of beta thalassemia, an inherited blood disorder. CHOP will continue to be a part of this work as a Qualified Treatment Center, by offering the treatment, beti-cel (brand name Zynteglo®), which is manufactured by bluebird bio, to patients who require regular blood transfusions.

The data showed that 89% of patients treated with this one-time, custom-designed gene therapy during the three trials were able to stop blood transfusions while maintaining hemoglobin levels of at least 9 grams per deciliter. The benefits extended from patients ages 4 to 34 with beta globin mutations ranging from milder to more severe.

“There is a deep unmet need for a potentially curative treatment option for patients with transfusion-dependent beta thalassemia, whose quality of life is profoundly impacted by both the disease and the current standard of care,” said chief of CHOP’s Division of Hematology Alexis Thompson, MD, MPH, who presented before the FDA Advisory Committee ahead of approval. “As a lead investigator in the clinical trials that led to beti-cel’s approval, I am thrilled that the FDA has approved this treatment, which has the potential to vastly improve patients’ lives.”

See CHOP News to learn more.

Douglas Wallace, PhD

Douglas Wallace, PhD

Researchers Study Form of Vitamin B3 and Exercise Intolerance in Mitochondrial Impairment

A preliminary study by CHOP researchers showed how nicotinamide riboside (NR), part of the vitamin B3 family, could help alleviate exercise intolerance caused by mitochondrial impairment. The journal of Molecular Metabolism published the findings.

Impaired mitochondrial function can lead to fatigue and exercise intolerance, resulting in severe limitations to patients’ everyday life. Building off a prior study, researchers focused on a specific gene called adenine nucleotide translocator isoform 1 (ANT1), which helps transport energy from the mitochondria. Previous studies have shown that impaired function of ANT1 results in cardiomyopathy and exercise intolerance.

When the ANT1-deficient model was treated with NR — a form of vitamin B3 that may increase the availability of nicotinamide adenine dinucleotide (NAD+), a coenzyme involved in hundreds of critical metabolic processes — the researchers found increased NAD+ levels in skeletal muscle and liver tissue, which led to increased exercise capacity and mitochondrial respiration. These findings suggest that this vitamin, a freely available nutrient supplement, could improve exercise capacity and quality of life for individuals with mitochondrial disorders. However, two other models with different mitochondrial defects did not positively respond to the nicotinamide riboside treatment, suggesting the benefits are specifically related to ANT1 deficiency.

“This demonstrates the heterogeneity of mitochondrial disorders and emphasizes the need for personalized treatments,” said senior study author Douglas Wallace, PhD, director of the Center for Mitochondrial and Epigenomic Medicine at CHOP. “Nicotinamide riboside is no panacea for mitochondrial disorders, but it might be a promising approach for some patients and suggests NAD+ supplementation should be considered in the context of mitochondrial disease therapeutics.”

Learn more


Catch up on our headlines from our Aug. 19 In the News:

  • Tune in to Dr. Sue Furth’s New Podcast
  • Dr. Cristancho Awarded Robert Wood Johnson Foundation Award
  • Researchers Refine Understanding of Fetal Hemoglobin Regulation
  • Researchers Develop Interdisciplinary Approach to Improve CPAP Use for Sleep Apnea

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