November 30, 2022
- Top-line Phase 1 data in healthy volunteers show that SYNB1353 reduces plasma methionine by consuming methionine in the GI tract
- SYNB1353 has been granted Orphan Drug Designation (ODD) from the FDA for the treatment of homocystinuria (HCU)
- The company confirms expectations for proof-of-concept data for SYNB8802 in enteric hyperoxaluria before year-end and Phase 3 initiation of SYNB1934 for PKU in H1 2023
October 27, 2022
Travere Therapeutics, Inc. today reported its third quarter 2022 financial results and provided a corporate update.
A Breakthrough Therapy Designation was granted to the pegtibatinase development program for classical homocystinuria (HCU).
October 4, 2022
Aeglea BioTherapeutics, Inc. clinical-stage biotechnology company developing a new generation of human enzyme therapeutics as innovative solutions for rare metabolic diseases, today announced that dosing in the third cohort of the Phase 1/2 clinical trial of pegtarviliase for the treatment of Classical Homocystinuria is underway.
Additionally, the company received a letter from the U.S. Food and Drug Administration (FDA) responding to a recently submitted protocol amendment for the Phase 1/2 clinical trial of pegtarviliase for the treatment of Classical Homocystinuria, saying that additional information is needed before the trial can be expanded to adolescents.
September 15, 2022
BVNW student takes fundraising into his own hands, raising money towards research for a rare genetic disorder.
August 29, 2022
Aeglea BioTherapeutics, Inc., a clinical-stage biotechnology company developing a new generation of human enzyme therapeutics to benefit people with rare metabolic diseases, today announced oral and poster presentations at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2022 being held in Freiburg, Germany August 30 – September 2. The presentations include perspectives on dietary management of Homocystinuria, which will be given as both an oral and poster presentation, as well as additional safety and efficacy data from the PEACE Phase 3 study of pegzilarginase for the treatment of patients with Arginase 1 Deficiency.
August 28, 2022
Synlogic, Inc., a clinical-stage biotechnology company developing medicines for metabolic and immunological diseases through its proprietary approach to synthetic biology, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to SYNB1353 for the potential treatment of homocystinuria (HCU).
The FDA’s Fast Track process is designed to facilitate the development and expedite the review of drugs to treat serious conditions and fill an unmet medical need. To qualify, available clinical and non-clinical data need to demonstrate meaningful therapeutic potential. The benefits of Fast Track designation include opportunities for frequent meetings with the FDA to discuss trial design, development plans and data needed to support drug approval, as well as the ability to submit a registrational filing for approval on a rolling basis, and eligibility for priority review, if relevant criteria are met. SYNB1353, an orally-administered, non-systemically absorbed drug candidate designed to consume methionine in order to lower homocysteine levels, is currently being evaluated in a Phase 1 study in healthy volunteers.
August 25, 2022
Population-based Incidence Estimates of Classical Homocystinuria Using the Genome Aggregation Database (gnomAD)
A Longitudinal Study of Cognitive Function in Classical Homocystinuria Demonstrates Distinct Deficits in Inhibitory Control
- Insights from the First Genetic Evaluation of a Longitudinal Natural History Study in Classical Homocystinuria (HCU)
August, 4 2022
- Cohort 2 Completed in Phase 1/2 Trial of AGLE-177; Data Expected in Fourth Quarter of 2022
- Actively Engaged with FDA to Identify Potential Paths Forward for Pegzilarginase
- Gross Proceeds of $45 Million from May 2022 Registered Direct Offering Extends Cash Runway Through the Second Quarter of 2023
Aeglea BioTherapeutics, Inc.a clinical-stage biotechnology company developing a new generation of human enzyme therapeutics as innovative solutions for rare metabolic diseases, today announced financial results for the second quarter ended June 30, 2022 and provided program updates.
"We continue to make progress with our Homocystinuria program and are encouraged by the physician and patient interest in advancing our Phase 1/2 trial. There remains a great need for better treatment options for Homocystinuria patients and we look forward to sharing data from this trial later this year," said Anthony Quinn, M.B., Ch.B., Ph. D., president and chief executive officer of Aeglea.
August 3, 2022
Pegtibatinase granted Breakthrough Therapy Designation by FDA
Today, Travere Therapeutics, provided regulatory updates for its sparsentan programs in IgA nephropathy (IgAN) and focal segmental glomerulosclerosis (FSGS), as well as its pegtibatinase program for classical homocystinuria (HCU).
One in 10 Centennial Staters has a so-called orphan disease—the local medical community is trying to help them.
In 2011, doctors told Brittany Parke that her newborn baby boy was completely healthy, but she wasn’t so sure. The 25-year-old was living in upstate New York, and as a second-time mom, she knew something wasn’t quite right with little Drew. The two-month-old was sleeping excessively and refused to eat. Doctors brushed away her concerns. Then came the seizures. Three and a half weeks after first seeing a doctor, she began to receive answers. But by then, it was too late. Drew died shortly thereafter.
July 13, 2022
Organizations that advocate for patients with rare diseases have a lot on their plates. Their leaders—individuals often affected by these diseases in some way—wear many hats. They become quick experts in genetics, fundraising, community building, and the needs of researchers working to better understand these disorders and develop new therapies.
When it comes to collecting biosamples for research—often one of the most important requirements of scientists—Coriell can help shoulder that burden.
July 12, 2022
- Synlogic Initiates Phase 1 Study of SYNB1353 for the Treatment of Homocystinuria (HCU)
- Company expects data from the SYNB1353 healthy volunteer study in H2 2022
- Trial marks Synlogic’s third clinical-stage program; data readouts for all programs expected in H2 2022
June 25, 2022
HCU Network America announced the third recipient of the CBS deficiency global grants program – awarding a research grant to the Newcastle University Biosciences Institute in Newcastle, United Kingdom to explore a potential avenue for treatment for homocystinuria due to cystathionine beta-synthase (CBS) deficiency. The research, led by Dr. Thomas McCorvie, aims to identify stabilizers or activators of the defective enzyme in CBS-deficient homocystinuria (HCU). Dr. McCorvie is a Senior Research Associate at the Newcastle University Biosciences Institute
June 22, 2022
Organic Acidemia Association Provides Additional Support to Expand Fund
May 13, 2022
CblC Onlus, HCU Network America and the Organic Acidemia Association today announced the recipient of their first collaborative cobalamin research grant– awarding a research grant to the National Research Council’s Institute of Biophysics in Palermo, Italy to identify potential treatment for cobalamin C (cblC) deficiency. The research, led by Dr. Silvia Vilasi, aims to identify compounds that could potentially rescue MMACHC functional deficiency in cblC disease. Dr. Vilasi is a researcher at the Institute of Biophysics (IBF) in the National Research Council, and has had a longstanding interest and involvement in the study of structure-function relationship of proteins involved in human pathologies. More recently she focused her interest in homocystinuria research.
March 22, 2021
Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria
December 4, 2020
Margie McGlynn, MBA '83 and BS '82, president of the Homocystinuria Network America, has endowed a professorship in the School of Pharmacy and Pharmaceutical Sciences to find holistic solutions for rare genetic diseases like the one that took the lives of two of her sisters in childhood.
October 25, 2019
Data from Orphan Technologies' prospective natural study in Classical Homocystinuria demonstrates that current treatments do not prevent severe disease outcomes
Orphan Technologies presented 3 Posters at SSIEM 2019 demonstrating:
- Current standard of care does not adequately control homocysteine levels in patients with classical homocystinuria
- Patients receiving care at centers of excellence still experience ocular deficits, inflammation, and metabolic and liver dysfunction
- Many diagnosed and treated patients have severe cognitive impairment and increased skeletal fragility despite young age
April 9, 2019
First human clinical trial is latest CU Anschutz-led milestone on homocystinuria
February 6, 2019
- Rare metabolic disorder causes severe cardiovascular, skeletal, neurologic, and ophthalmic consequences with no adequate treatments
- OT-58 is a novel, engineered enzyme has demonstrated reduction in homocysteine levels in preclinical models
- Ongoing natural history study to define progression of disease in patients suffering from homocystinuria
January 25, 2019
HCU Network America and HCU Network Australia today announced the first recipient of their CBS deficiency global grants program – awarding a research grant to the University of Colorado School of Medicine in Denver to explore a potential treatment for homocystinuria due to cystathionine beta-synthase (CBS) deficiency. The research, led by Professor Kenneth N. Maclean aims to investigate the potential usage of different metabolic strategies designed to increase the efficacy of betaine to treat CBS deficient homocystinuria (HCU). Dr. Maclean, is a professor of pediatrics at the University of Colorado School of Medicine, and has had a longstanding interest and involvement in homocystinuria research.
December 7, 2018
Orphan Technologies Presents Data Indicating that the Prevalence of Homocystinuria is Substantially Higher than Previously Estimated
- Data presented at ISPOR Europe 2018 demonstrates that the prevalence of homocystinuria (HCU) is greater than that of phenylketonuria (PKU)
- Study demonstrates that newborn screening fails to capture the vast majority of homocystinuria cases
October 10, 2018
Aeglea BioTherapeutics to Present New Interim Phase 1/2 Clinical Trial Data in Arginase 1 Deficiency at 2018 ASHG Annual Meeting
Positive Preclinical Efficacy Data on its AEB4104 Homocystinuria Therapeutic Program
July 30, 2018
Preclinical Efficacy Data of AEB4104 - a New Enzyme Approach - for the treatment of Homocystinuria