Inborn errors of carbohydrate metabolism

Ultragenyx Receives Orphan Drug Designation from FDA and European Commission for UX053, an Investigational mRNA-therapy for the Treatment of Glycogen Storage Disease Type III

Retrieved on: 
Tuesday, July 27, 2021
Hepatology, Enzymes, Inborn errors of carbohydrate metabolism, Medical specialties, Branches of biology, Glycogen storage disease type III, Glycogen storage disease, Glycogen debranching enzyme, Orphan drug, Debranching enzyme, Glycogen, AGL

The FDA Orphan Drug Designation program provides orphan status to drugs and biologics that are intended for the safe and effective treatment, diagnosis, or prevention of rare diseases that affect fewer than 200,000 people in the U.S.

Key Points: 
  • The FDA Orphan Drug Designation program provides orphan status to drugs and biologics that are intended for the safe and effective treatment, diagnosis, or prevention of rare diseases that affect fewer than 200,000 people in the U.S.
  • Among the benefits of orphan designation in the U.S. are seven years of market exclusivity following FDA approval, waiver or partial payment of application fees, and tax credits for clinical testing expenses conducted after orphan designation is received.
  • Glycogen Storage Disease Type III, or GSDIII, a disease caused by a glycogen debranching enzyme (AGL) deficiency that results in glycogen accumulation in the liver and muscle.
  • The company is led by a management team experienced in the development and commercialization of rare disease therapeutics.

Agios Launches myAgios® Patient Support Services for Pyruvate Kinase Deficiency

Retrieved on: 
Tuesday, June 22, 2021
Blood, Medical specialties, Hematopathology, Branches of biology, Inborn errors of carbohydrate metabolism, Pyruvate kinase, Anemias, Haemolytic anaemias, Hemolysis, Kinase, Hemolytic anemia, Congenital hemolytic anemia

CAMBRIDGE, Mass., June 22, 2021 (GLOBE NEWSWIRE) -- Agios Pharmaceuticals, Inc. (NASDAQ: AGIO), a leader in the field of cellular metabolism developing and delivering innovative treatments for genetically defined diseases, today announced the launch of myAgios patient support services for people living with pyruvate kinase (PK) deficiency and their caregivers.

Key Points: 
  • CAMBRIDGE, Mass., June 22, 2021 (GLOBE NEWSWIRE) -- Agios Pharmaceuticals, Inc. (NASDAQ: AGIO), a leader in the field of cellular metabolism developing and delivering innovative treatments for genetically defined diseases, today announced the launch of myAgios patient support services for people living with pyruvate kinase (PK) deficiency and their caregivers.
  • Pyruvate kinase deficiency is a lifelong hemolytic anemia with no disease-modifying treatments currently available to patients.
  • Patients and caregivers interested in obtaining more detailed content about PK deficiency can enroll in the patient support program at www.myagios.com/patient/pkd-enroll .
  • Pyruvate kinase (PK) deficiency is a rare, inherited disease that presents as chronic hemolytic anemia, which is the accelerated destruction of red blood cells.

Agios Submits New Drug Application to FDA for Mitapivat for Treatment of Adults with Pyruvate Kinase Deficiency

Retrieved on: 
Monday, June 21, 2021
Blood, Medical specialties, Hematopathology, Hematology, Inborn errors of carbohydrate metabolism, Anemias, Pyruvate kinase, Haemolytic anaemias, Transfusion medicine, Hemolysis, Hemolytic anemia, Kinase

An extension study for adults with PK deficiency previously enrolled in ACTIVATE or ACTIVATE-T is ongoing and designed to evaluate the long-term safety, tolerability and efficacy of treatment with mitapivat.

Key Points: 
  • An extension study for adults with PK deficiency previously enrolled in ACTIVATE or ACTIVATE-T is ongoing and designed to evaluate the long-term safety, tolerability and efficacy of treatment with mitapivat.
  • The company remains on track to submit a marketing authorization application (MAA) in the EU in mid-2021 for mitapivat in adults with PK deficiency.
  • Pyruvate kinase (PK) deficiency is a rare, inherited disease that presents as chronic hemolytic anemia, which is the accelerated destruction of red blood cells.
  • The companys most advanced drug candidate is a first-in-class pyruvate kinase R (PKR) activator, mitapivat, that is currently being evaluated for the treatment of three distinct hemolytic anemias.

Soleno Therapeutics Receives Orphan Drug Designation from FDA for Diazoxide Choline for the Treatment of Glycogen Storage Disease Type 1a

Retrieved on: 
Wednesday, June 2, 2021
Hepatology, Medical specialties, Inborn errors of carbohydrate metabolism, Branches of biology, Clinical medicine, Glycogen storage disease, Gierke, Glycogen, GSD, Hypoglycemia

REDWOOD CITY, Calif., June 02, 2021 (GLOBE NEWSWIRE) -- Soleno Therapeutics, Inc. (Soleno) (NASDAQ: SLNO), a clinical-stage biopharmaceutical company developing novel therapeutics for the treatment of rare diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted its investigational drug, DCCR (diazoxide choline) Extended-Release tablets, Orphan Drug Designation for the treatment of Glycogen Storage Disease Type 1a (GSD 1a), or von Gierke disease.

Key Points: 
  • REDWOOD CITY, Calif., June 02, 2021 (GLOBE NEWSWIRE) -- Soleno Therapeutics, Inc. (Soleno) (NASDAQ: SLNO), a clinical-stage biopharmaceutical company developing novel therapeutics for the treatment of rare diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted its investigational drug, DCCR (diazoxide choline) Extended-Release tablets, Orphan Drug Designation for the treatment of Glycogen Storage Disease Type 1a (GSD 1a), or von Gierke disease.
  • DCCR previously received Orphan Drug Designation for the treatment of Prader-Willi syndrome.
  • The granting of Orphan Drug Designation for our DCCR program in an additional indication, GSD 1a, represents a significant milestone for Soleno, saidAnish Bhatnagar, M.D., Chief Executive Officer ofSoleno Therapeutics.
  • GSD 1a is a type of glycogen storage disease marked by the bodys inability to metabolize glycogen into glucose, resulting in hypoglycemia, high levels of fat in the blood, and impaired growth, among other complications.

Applied Therapeutics Reports First Quarter 2021 Financial Results

Retrieved on: 
Tuesday, May 11, 2021
Inborn errors of carbohydrate metabolism, Galactose, Health, Congenital disorders of glycosylation, Galactosemia, Medical genetics, PMM2 deficiency, Galactose-1-phosphate uridylyltransferase deficiency, Sord, Clinical trial

In April 2021, the Company presented data featuring a cross-sectional analysis of nineteen pediatric patients with Classic Galactosemia, providing meaningful insight on the progressive worsening of the central nervous system phenotype with age.\nHosted Virtual Rare Disease Forum.

Key Points: 
  • In April 2021, the Company presented data featuring a cross-sectional analysis of nineteen pediatric patients with Classic Galactosemia, providing meaningful insight on the progressive worsening of the central nervous system phenotype with age.\nHosted Virtual Rare Disease Forum.
  • In March 2021, the Company hosted a virtual forum highlighting its AT-007 development programs in Galactosemia, SORD Deficiency, and PMM2-CDG.
  • A replay of the presentation, which featured several rare disease key opinion leaders, is available at https://www.appliedtherapeutics.com/presentations-and-publications/ .\nAnnounced Restart of Pediatric Galactosemia Study.
  • In February 2021, the Company announced that the FDA lifted the clinical hold on the AT-007 ACTION-Galactosemia Kids pediatric clinical study, and the study resumed immediately.

Applied Therapeutics to Host Virtual Rare Disease Forum

Retrieved on: 
Tuesday, March 16, 2021
Galactose, Inborn errors of carbohydrate metabolism, Congenital disorders of glycosylation, Galactosemia, PMM2 deficiency, PMM2, Sord

NEW YORK, March 16, 2021 (GLOBE NEWSWIRE) -- Applied Therapeutics, Inc. (Nasdaq: APLT), a clinical-stage biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need, today announced it will host a Virtual Rare Disease Forum on Tuesday, March 23rd, 2021 from 1:00pm to 3:00pm ET.

Key Points: 
  • NEW YORK, March 16, 2021 (GLOBE NEWSWIRE) -- Applied Therapeutics, Inc. (Nasdaq: APLT), a clinical-stage biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need, today announced it will host a Virtual Rare Disease Forum on Tuesday, March 23rd, 2021 from 1:00pm to 3:00pm ET.
  • The event will highlight Applied Therapeutics development programs in Galactosemia, SORD Deficiency, and PMM2-CDG.
  • The agenda for the event will include:
    Were excited to host this event to spotlight our clinical development programs in Galactosemia, SORD and PMM2-CDG, saidShoshana Shendelman, PhD, Founder, CEO and Chair of the Board of Applied Therapeutics.
  • The Companys lead drug candidate, AT-007, is a novel central nervous system penetrant aldose reductase inhibitor (ARI) for the treatment of Galactosemia, a rare pediatric metabolic disease.

Amicus’ AT-GAA Shows Clinically Meaningful & Significant Improvements in Both Musculoskeletal and Respiratory Measures in Late-Onset Pompe Disease Compared to Standard of Care in Pivotal Phase 3 PROPEL Study

Retrieved on: 
Thursday, February 11, 2021
Branches of biology, Clinical medicine, Medicine, Hepatology, Lysosomal storage diseases, Rare diseases, Exercise physiology, Inborn errors of carbohydrate metabolism, Glycogen storage disease type II, Alglucosidase alfa, Pompe, Acid alpha-glucosidase

PROMIS Fatigue: Fatigue as measured by this scale slightly favored AT-GAA treated patients over alglucosidase alfa treated patients.

Key Points: 
  • PROMIS Fatigue: Fatigue as measured by this scale slightly favored AT-GAA treated patients over alglucosidase alfa treated patients.
  • Urine Hex-4 is a common biomarker in Pompe disease and is used as an indirect measure of the degree of skeletal glycogen clearance in Pompe patients receiving ERT.
  • Glycogen is the substrate that accumulates in the lysosomes of muscles of Pompe patients.
  • We believe that AT-GAA has the potential to quickly become the new standard of care in the treatment of this devastating muscle disease.

Applied Therapeutics Announces Restart of Pediatric Galactosemia Study

Retrieved on: 
Monday, February 1, 2021
Health sciences, Medicine, Health, Galactose, Inborn errors of carbohydrate metabolism, Galactosemia, Clinical trial, Biomarker

Previously, the ACTION-Galactosemia Kids program was split into two separate clinical studies a dose escalation and biomarker study followed by a separate long-term clinical outcomes study.

Key Points: 
  • Previously, the ACTION-Galactosemia Kids program was split into two separate clinical studies a dose escalation and biomarker study followed by a separate long-term clinical outcomes study.
  • Additionally, the dose-escalation portion of the study has been operationally modified to ensure continuous drug treatment and participation throughout the study.
  • AT-007 represents an important advancement for Galactosemia patients, and offering a therapeutic option to children is a priority for Applied Therapeutics.
  • The company received Orphan Designation for AT-007 for Galactosemia inMay 2019 and Pediatric Rare Disease Voucher (PRV) designation in 2020.

Applied Therapeutics Announces Launch of Galactosemia Awareness and Education Initiative

Retrieved on: 
Wednesday, December 9, 2020
Inborn errors of carbohydrate metabolism, Galactose, Galactosemia

We are thrilled that Applied Therapeutics is not only providing hope for a drug that could be used in the treatment of Galactosemia, but also is committed to creating valuable resources in the realm of disorder awareness and education.

Key Points: 
  • We are thrilled that Applied Therapeutics is not only providing hope for a drug that could be used in the treatment of Galactosemia, but also is committed to creating valuable resources in the realm of disorder awareness and education.
  • On behalf of the Foundation, Id like to thank Applied Therapeutics for their commitment to the Galactosemia community.
  • We are pleased to partner with the Galactosemia community in this important educational endeavor, saidShoshana Shendelman, PhD, Founder, CEO and Chair of the Board of Applied Therapeutics.
  • Applied Therapeutics is committed to supporting the needs of Galactosemia patients and caregivers.

Applied Therapeutics Announces MRS Data from ACTION-Galactosemia Study

Retrieved on: 
Wednesday, December 9, 2020
Galactose, Inborn errors of carbohydrate metabolism, Galactosemia

There were two exceptions, which may have resulted from incomplete peak separation on the MRS scans.

Key Points: 
  • There were two exceptions, which may have resulted from incomplete peak separation on the MRS scans.
  • We are pleased to share our MRS data from ACTION-Galactosemia and believe this represents an important scientific advancement in the field of Galactosemia research, saidRiccardo Perfetti, MD, PhD, Chief Medical Officer of Applied Therapeutics.
  • Applied Therapeutics will hold a conference call to discuss the data in more detail at 8:30 a.m.
  • Conference Call at 8:30 a.m. Eastern Time
    Applied Therapeutics will hold a conference call to discuss MRS data from the ACTION-Galactosemia study today, December 9, 2020 at 8:30 a.m.