Galactosemia

Applied Therapeutics Announces Full Data and Scientific Presentations from the Pivotal Phase 2 ACTION-Galactosemia Trial

Retrieved on: 
Tuesday, April 21, 2020
Galactose, Galactosemia

The live event will be available on the Presentations & Publications section of the Applied Therapeutics website at www.appliedtherapeutics.com.

Key Points: 
  • The live event will be available on the Presentations & Publications section of the Applied Therapeutics website at www.appliedtherapeutics.com.
  • A replay of the call will be available on the Applied Therapeutics website approximately two hours after the completion of the call and will be archived for 30 days.
  • We are pleased to share the full results of ACTION-Galactosemia, said Riccardo Perfetti, MD, PhD, Chief Medical Officer of Applied Therapeutics.
  • The Company initiated a Phase 1/2 clinical trial in June 2019 and read out positive top-line biomarker data in adult Galactosemia patients in January of 2020.

Applied Therapeutics Announces Positive Topline Results of Pivotal Phase 2 ACTION-Galactosemia Study of AT-007 in Galactosemia Patients

Retrieved on: 
Wednesday, January 8, 2020
Inborn errors of carbohydrate metabolism, Galactose, Galactosemia, Galactitol, Galactosemic cataract, Health

The key biomarker outcome of the study was reduction in galactitol, an aberrant toxic metabolite of galactose, formed by Aldose Reductase in Galactosemia patients.

Key Points: 
  • The key biomarker outcome of the study was reduction in galactitol, an aberrant toxic metabolite of galactose, formed by Aldose Reductase in Galactosemia patients.
  • AT-007 treatment resulted in a statistically significant and robust reduction in plasma galactitol vs placebo in adult Galactosemia patients.
  • Applied Therapeutics will continue to characterize AT-007 long-term safety in adult Galactosemia patients and intends to initiate a pediatric study in 2020.
  • Based on these results reported today, Applied Therapeutics believes that AT-007 represents a potentially compelling new therapeutic option for patients with Galactosemia.

Applied Therapeutics to Present Data Highlighting AT-007 for the Treatment of Galactosemia at the American Society of Human Genetics (ASHG) 2019 Annual Meeting

Retrieved on: 
Wednesday, October 16, 2019
Inborn errors of carbohydrate metabolism, Nutrition, Galactosemia, Health, Sugar substitutes, Galactose, Branches of biology, Carbohydrate, Galactose-1-phosphate uridylyltransferase deficiency, Galactosemic cataract

In addition, the Company will host an ASHG Educational Symposium featuring a panel of Galactosemia experts.

Key Points: 
  • In addition, the Company will host an ASHG Educational Symposium featuring a panel of Galactosemia experts.
  • Galactosemia is a rare metabolic disease that affects how the body processes a simple sugar called galactose, and for which there is no known cure or approved treatment available.
  • Galactose is found in foods, but the human body also naturally produces galactose on its own, so dietary restriction cant prevent complications of disease.
  • AT-007 is a central nervous system (CNS) penetrant Aldose Reductase inhibitor (ARI) in Phase 1/2 development for treatment of Galactosemia.

Applied Therapeutics Reports AT-007 SAD Data from Healthy Volunteer Portion of Phase 1/2 ACTION-Galactosemia Study

Retrieved on: 
Thursday, August 8, 2019
Galactose, Inborn errors of carbohydrate metabolism, Galactosemia

The SAD study treated 4 cohorts of 8 subjects each and explored doses from 0.5mg/kg to 20mg/kg.

Key Points: 
  • The SAD study treated 4 cohorts of 8 subjects each and explored doses from 0.5mg/kg to 20mg/kg.
  • We are encouraged by the favorable safety profile in healthy volunteers, and we look forward to advancing AT-007 through the MAD study in healthy volunteers and to the Phase 2 portion of the study in patients with Galactosemia, said Riccardo Perfetti, MD, PhD, Chief Medical Officer of Applied Therapeutics.
  • AT-007 will advance in parallel to a Phase 1b Multiple Ascending Dose (MAD) study in healthy volunteers (up to 7 consecutive days of treatment), and a Phase 2 study in adults with Galactosemia.
  • Applied Therapeutics plans to employ recent FDA guidance permitting biomarker-based development in low prevalence, slowly progressing rare metabolic diseases, such as Galactosemia.

Applied Therapeutics to Present New Data on Novel Investigational Treatment for Galactosemia at 2018 NORD Summit

Retrieved on: 
Monday, October 15, 2018
Inborn errors of carbohydrate metabolism, Galactose, Galactosemia, Galactose-1-phosphate uridylyltransferase deficiency, Galactose epimerase deficiency, Galactosemic cataract

The presentation, entitled "A Novel Investigational Treatment in Preclinical Development for Galactosemia," will be available for viewing throughout the conference.

Key Points: 
  • The presentation, entitled "A Novel Investigational Treatment in Preclinical Development for Galactosemia," will be available for viewing throughout the conference.
  • Oral treatment of neonatal rats once daily with AT-007 effectively prevented complications associated with galactosemia in a model of Classic Galactosemia.
  • Additional data on prevention of complications associated with galactitol formation will be presented at the NORD Summit.
  • For more information about galactosemia, please visit the Galactosemia Foundation website or the National Organization for Rare Disorders (NORD) website .

Applied Therapeutics to Present New Data on Prevention and Treatment of Galactosemia Complications at the Galactosemia Foundation Conference

Retrieved on: 
Wednesday, July 11, 2018
Inborn errors of carbohydrate metabolism, Galactose, Galactosemia, Galactose-1-phosphate uridylyltransferase deficiency, Duarte galactosemia, Galactose epimerase deficiency

The data presentation, entitled "A Novel Investigational Treatment in Preclinical Development for Galactosemia," will be presented on Saturday, July 14 at 3:30 p.m. MT.

Key Points: 
  • The data presentation, entitled "A Novel Investigational Treatment in Preclinical Development for Galactosemia," will be presented on Saturday, July 14 at 3:30 p.m. MT.
  • Oral treatment of neonatal rats once daily with AT-007 effectively prevented complications associated with galactosemia in a model of Classic Galactosemia.
  • Additional data on prevention of complications associated with galactitol formation will be presented.
  • For more information about galactosemia, please visit the Galactosemia Foundation website or the National Organization for Rare Disorders (NORD) website .