Fatty-acid metabolism disorder

NxGen MDx Announces New Early Advantage Carrier Screening Panel

Retrieved on: 
Wednesday, September 15, 2021
Program, Lists of diseases, Newborn screening, Fatty-acid metabolism disorder, Gestational age, PMID, Infant, Genetic testing, Health, Failure, Effect, Doctor of Philosophy, Patient, Pediatrics, LLC, Child, Mortality, Birth weight, MCADD, HHS, Collection, Philosophy, Pregnancy, NBS, Office of Inspector General, U.S. Department of Health and Human Services, Parent, Face, Time, Life, Lois Scharf, U.S. Department of Defense Strategy for Operating in Cyberspace, H, Birth control, Pharmaceutical industry

GRAND RAPIDS, Mich., Sept. 15, 2021 /PRNewswire/ -- NxGen MDx is taking an innovative approach to genetic carrier screening panel design by creating the Early Advantage Panel.

Key Points: 
  • GRAND RAPIDS, Mich., Sept. 15, 2021 /PRNewswire/ -- NxGen MDx is taking an innovative approach to genetic carrier screening panel design by creating the Early Advantage Panel.
  • This panel is the first of its size to fully incorporate screening recommendations from the U.S. Department of Health and Human Services (HHS).
  • September is Newborn Screening Awareness Month; each year, an estimated 4 million babies are reached by Newborn Screening (NBS) programs.
  • In contrast, NxGen's carrier screening is not dependent on geographical location, timing, or any characteristics of the infant, which allows for more equitable care.

Ultragenyx Announces Approval of Dojolvi™ (UX007/triheptanoin) in Canada for the Treatment of Long-chain Fatty Acid Oxidation Disorders in Adults and Children

Retrieved on: 
Wednesday, February 17, 2021
Branches of biology, Fatty acids, Biology, Metabolism, Nutrition, Triglyceride, Beta oxidation, Fatty-acid metabolism disorder, Lipid, Fatty acid metabolism, Long-chain-fatty-acid—CoA ligase

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare, genetic, life-threatening disorders caused by defects in the enzymes needed to produce energy from fatty acids.

Key Points: 
  • Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare, genetic, life-threatening disorders caused by defects in the enzymes needed to produce energy from fatty acids.
  • Dojolvi is a highly purified, synthetic, 7-carbon fatty acid triglyceride specifically designed to provide medium-chain, odd-carbon fatty acids as an energy source and metabolite replacement for people with LC-FAOD.
  • This would not have been possible without the LC-FAOD community, including all the patients, families and physicians who participated in the clinical trials.
  • LC-FAOD affect an estimated 8,000 to 14,000 children and adults in the developed world, including Canada.

Ultragenyx Announces U.S. FDA Approval of Dojolvi™ (UX007/triheptanoin), the First FDA-Approved Therapy for the Treatment of Long-chain Fatty Acid Oxidation Disorders

Retrieved on: 
Tuesday, June 30, 2020
Branches of biology, Fatty acids, Metabolism, Fatty-acid metabolism disorder, Beta oxidation

Food and Drug Administration(FDA) has approved Dojolvi (triheptanoin) as a source of calories and fatty acids for the treatment of pediatric and adult patients with molecularly confirmed long-chain fatty acid oxidation disorders (LC-FAOD).

Key Points: 
  • Food and Drug Administration(FDA) has approved Dojolvi (triheptanoin) as a source of calories and fatty acids for the treatment of pediatric and adult patients with molecularly confirmed long-chain fatty acid oxidation disorders (LC-FAOD).
  • With todays FDA approval, patients living with this serious, unpredictable, and often catastrophic disease now have an approved therapy.
  • Many patients with long-chain fatty acid oxidation disorders have difficult lives with frequent hospitalizations and major medical events despite the best current care.
  • Ultragenyx will host a conference call today at 4:00 pm Eastern Time/ 1:00 pm Pacific Time to discuss the Dojolvi approval.

Reneo Pharmaceuticals Announces Presentations at the INFORM Conference in Amsterdam

Retrieved on: 
Friday, August 30, 2019
Health, Branches of biology, Rare diseases, Medicine, Clinical trial, Inborn error of lipid metabolism, Mitochondrial disease, Fatty-acid metabolism disorder, Acute fatty liver of pregnancy

The conference focuses on the most recent advances in diagnosis and treatment of disorders of fatty acid oxidation .

Key Points: 
  • The conference focuses on the most recent advances in diagnosis and treatment of disorders of fatty acid oxidation .
  • Once validated, Reneo plans to incorporate this instrument into future clinical trials of REN001, a proprietary PPARagonist.
  • Reneo is currently enrolling patients with fatty acid oxidation defects in a Phase 1b study of REN001.
  • Reneo Pharmaceuticals is a clinical stage pharmaceutical company focused on the development of therapies for patients with genetic mitochondrial diseases.