Feinberg
Northwestern Medicine | Northwestern University | Faculty Profiles

News Center

  • Categories
    • Campus News
    • Disease Discoveries
    • Clinical Breakthroughs
    • Education News
    • Scientific Advances
  • Press Releases
  • Media Coverage
  • Podcasts
  • Editor’s Picks
    • COVID-19
    • Cardiology
    • Cancer
    • Neurology and Neuroscience
    • Aging and Longevity
    • Artificial Intelligence in Medicine
  • News Archives
  • About Us
    • Media Contact
    • Share Your News
    • News Feeds
    • Social Media
    • Contact Us
Menu
  • Categories
    • Campus News
    • Disease Discoveries
    • Clinical Breakthroughs
    • Education News
    • Scientific Advances
  • Press Releases
  • Media Coverage
  • Podcasts
  • Editor’s Picks
    • COVID-19
    • Cardiology
    • Cancer
    • Neurology and Neuroscience
    • Aging and Longevity
    • Artificial Intelligence in Medicine
  • News Archives
  • About Us
    • Media Contact
    • Share Your News
    • News Feeds
    • Social Media
    • Contact Us
Home » New Therapy Reduces Symptoms of Inherited Enzyme Deficiency
Clinical Breakthroughs

New Therapy Reduces Symptoms of Inherited Enzyme Deficiency

By Sarah PlumridgeOct 9, 2015
Share
Facebook Twitter Email
burtonbarbara
Barbara Burton, ’73 MD, ’75 ’77 GME, professor of Pediatrics in the Division of Genetics, Birth Defects and Metabolism, led a phase three clinical trial that evaluated the effectiveness and safety of a new enzyme replacement therapy for patients with lysosomal acid lipase deficiency.

A phase three clinical trial of a new enzyme replacement medication, sebelipase alfa, showed a reduction in multiple disease-related symptoms in children and adults with lysosomal acid lipase deficiency, an inherited enzyme deficiency that can result in scarring of the liver and high cholesterol.

Barbara Burton, ’73 MD, ’75 ’77 GME, professor of Pediatrics in the Division of Genetics, Birth Defects and Metabolism, was the principal investigator for this study, recently published in The New England Journal of Medicine.

Currently, there are no safe or effective therapies for lysosomal acid lipase deficiency. Cholesterol-lowering medications have had limited success in reducing the progression of the disease and the eventual need for liver transplant.

A total of 66 patients were enrolled in the multi-center study, which was designed and supported by Synageva BioPharma, the pharmaceutical company that manufactures the drug. Patients were randomly assigned to receive either sebelipase alfa or a placebo for 20 weeks before entering the open-label period. The investigators evaluated the effectiveness of the therapy through the normalization of the alanine aminotransferase level (ALT), a test used to detect liver damage. They also looked at other disease-related symptoms and possible side effects.

“The enzyme replacement therapy appears to be effective in clearing fat from the liver of patients with this deficiency and normalizing their ALT,” said Dr. Burton, also a member of the Center for Genetic Medicine and the Stanley Manne Children’s Research Institute at the Ann & Robert H. Lurie Children’s Hospital of Chicago. “In many cases, we are hopeful this will prevent progression of the disease by reducing fat accumulation in the liver and prevent the need for liver transplantation.”

The clinical trial reported at 20 weeks that the ALT level was normal in 31 percent of patients in the sebelipase alfa group, and they observed improvements in lipid levels and reduction of fat content in the liver.

Dr. Burton is working on another clinical trial to evaluate this therapy in patients with more advanced disease.

Genetics Pediatrics Research
Share. Facebook Twitter Email

Related Posts

Evolving Telehealth Research and its Place in Healthcare Delivery 

Dec 8, 2023

Global Health Day Highlights Pandemic, HIV Research

Dec 8, 2023

AI May Spare Breast Cancer Patients Unnecessary Treatments

Dec 7, 2023

Comments are closed.

Latest News

Evolving Telehealth Research and its Place in Healthcare Delivery 

Dec 8, 2023

Global Health Day Highlights Pandemic, HIV Research

Dec 8, 2023

AI May Spare Breast Cancer Patients Unnecessary Treatments

Dec 7, 2023

Drug Extends Survival in Prostate Cancer with Genetic Mutations  

Dec 6, 2023

Pioneering Biochemist Craig Crews Named Winner of 2024 Kimberly Prize

Dec 5, 2023
  • News Center Home
  • Categories
  • Press Release
  • Media Coverage
  • Editor’s Picks
  • News Archives
  • About Us
Flickr Photos
2023-Sim-Open-House_161
2023-Sim-Open-House_127
2023-Sim-Open-House_108
2023-Sim-Open-House_106
2023-Sim-Open-House_118
2023-Sim-Open-House_068
2023-Sim-Open-House_069
2023-Sim-Open-House_027
2023-Sim-Open-House_155
2023-Sim-Open-House_161
2023-Sim-Open-House_127
2023-Sim-Open-House_108

Northwestern University logo

Northwestern University Feinberg School of Medicine

RSS Facebook Twitter LinkedIn Flickr YouTube Instagram
Copyright © 2023 Northwestern University
  • Contact Northwestern University
  • Disclaimer
  • Campus Emergency Information
  • Policy Statements

Type above and press Enter to search. Press Esc to cancel.