February 15, 2025
Today, HCU Network America announces the recipient of its seventh research grant, awarded to the University of Colorado, to develop new treatments for classical homocystinuria. The research, led by Dr. Ken Maclean, aims to lower homocysteine levels and improve cardiovascular complications in HCU patients with the combination of taurine and formate added to betaine treatment. Dr. Maclean is a Professor of Pediatrics at the University of Colorado School of Medicine.
January 30, 2025
HCU Network America Awards Syntis Bio their 6th classical HCU research grant.
Today HCU Network America has announced the recipient of its sixth research grant, awarding Syntis Bio, to develop new treatments for Classical Homocystinuria. The research, led by Dr. Vasa Sethuraman, aims to optimize oral dosing for a novel GI-Stable Methionine-Gamma-Lyase (MGL) enzyme to treat HCU. Dr. Sethuraman is the Head of Research and Development at Syntis Bio.
January 15, 2025
Today HCU Network America announces the recipient of its fifth research grant, awarded to the University of Fribourg in Switzerland. The funding will support the development of new therapies to treat classical homocystinuria. The research, led by Dr. Tomas Majtan, aims to develop a cell-based assay to assess CBS protein stability as a screen for pharmacological chaperones. Dr. Majtan is a senior researcher in the Department of Pharmacology at the University of Fribourg in Switzerland.
September 26, 2024
Travere Therapeutics, Inc., announced a voluntary pause of enrollment in the Phase 3 HARMONY Study evaluating pegtibatinase for the treatment of classical homocystinuria (HCU). The voluntary enrollment pause enables the Company to work to address necessary process improvements in manufacturing scale-up to support commercial-scale manufacturing as well as full enrollment in the HARMONY Study. Patients currently enrolled in pegtibatinase studies continue to receive study medication from small-scale batches which are unaffected by the scale-up process. Currently enrolled patients will be able to continue on study medication as scheduled for the duration of the trials they are participating in.
August 22, 2024
Travere Therapeutics, Inc. announced that the Company will present two posters in classical homocystinuria (HCU) at the Society for the Study of Inborn Errors of Metabolism (SSIEM) annual symposium in Porto, Portugal, September 3-6, 2024.
At SSIEM, the Company will present the trial designs of the pivotal Phase 3 HARMONY Study and ENSEMBLE long-term extension study of pegtibatinase, a novel investigational enzyme replacement therapy for the treatment of classical HCU. Additionally, the Company will share the trial design of cohort 7 in the Phase 1/2 COMPOSE Study of pegtibatinase in pediatric participants with classical HCU.
Posters:
- Poster 72: Pegtibatinase, an Investigational Enzyme Replacement Therapy for Classical Homocystinuria (HCU): Design of the HARMONY and ENSEMBLE Phase 3 Studies
- Mechanism of action and impact of thiol homeostasis on efficacy of enzyme replacement therapy for homocystinuria
- Compose Phase 1/2, Dose-Escalation Cohort 7 Design: Safety of Pegtibatinase in Children >5 to <12 With Classical Homocystinuria (HCU)
June 11, 2024
Orphan pediatric portfolio acquired from Codexis expands pipeline with first-in-class oral enzyme replacement therapies for homocystinuria and maple syrup urine disease; both programs ready for IND-enabling studies
April 4, 2024
Travere Therapeutics, Inc. announced that the Company will present eight posters in classical homocystinuria (HCU) at the Society for Inherited Metabolic Disorders (SIMD) in Charlotte, North Carolina from April 14-17, 2024, and Genetic Metabolic Dieticians International (GMDI) in Charlotte, North Carolina from April 17-20, 2024.
At SIMD and GMDI, the Company will present the trial design of the pivotal Phase 3 HARMONY Study of pegtibatinase, a novel investigational enzyme replacement therapy for the treatment of classical HCU. Additionally, the Company will share insights on the development of an innovative tool used for dietary management and monitoring in the Phase 3 HARMONY Study and open-label extension ENSEMBLE Study, and the positive results from cohort 6 in the placebo-controlled Phase 1/2 COMPOSE Study of pegtibatinase in classical HCU.
-
SIMD Posters
-
GMDI Posters
December 14, 2023
Travere Therapeutics, Inc. announced the Company has opened enrollment in the HARMONY Study, a global, randomized pivotal Phase 3 clinical trial of pegtibatinase, a novel investigational enzyme replacement therapy being evaluated for the treatment of classical homocystinuria (HCU). Classical HCU is a rare genetic metabolic disorder caused by a deficiency in the enzyme cystathionine beta synthase (CBS). The study is designed to determine the safety and efficacy of pegtibatinase in reducing plasma total homocysteine (tHcy) levels, a key treatment goal in classical HCU, compared to placebo in participants who are receiving standard of care.
December 7, 2023
Poster presentation on SYNB1353 program for homocystinuria includes findings from process improvements to improve activity of methionine degradation
Synlogic, Inc., a clinical-stage biotechnology company advancing novel, oral, non-systemically absorbed biotherapeutics to transform the care of serious diseases, announced that an abstract outlining the SYNB1353 program as a potential treatment for homocystinuria (HCU), including findings from fermentation process improvements to increase activity of methionine degradation, has been accepted and will be presented at the International Conference on Microbiome Engineering 2023, held in Berkeley, California on December 8th to 10th.
August 24, 2023
Travere Therapeutics presented clinical data from the Phase 1/2 COMPOSE Study of pegtibatinase, a novel investigational enzyme replacement therapy being evaluated for the treatment of classical homocystinuria (HCU), at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium in Jerusalem, Israel, August 29 – September 1, 2023.
The Company and its collaborators also presented analyses on its prospective HCU natural history study, the prevalence of HCU, and the burden of HCU from the patient perspective highlighting the devastating nature of this rare metabolic disease over patients’ lifetimes and underscoring the urgent need for new treatments. In addition, the Company presented data on the clinical burden of HCU and the relationship between total homocysteine (tHcy) and clinical outcomes, which has been recognized as one of the highest-ranked posters at SSIEM.
- Clinical Characterization of Classical Homocystinuria Due to Cystathionine-beta Synthase Deficiency: Results from the ACAPPELLA Study
- Clinical Burden of Classical Homocystinuria in the United States: A Retrospective Analysis of Optum Market Clarity
- Validation of a Patient Identification Algorithm to Estimate the Prevalence of Classical
Homocystinuria (HCU) in the United States (US) - Understanding the Burden of Classical Homocystinuria (HCU) from the Patient’s Perspective: A Qualitative Study
July 27, 2023
Grayson: How Genetic Testing Saved His Life
It’s rare to see the story of medical progress evolve within a single family. We don’t always see how research, innovation and brilliant providers impact individual kids. When we do get a peek, it’s literally lifesaving.
That’s the case for Grayson and his family.
July 20, 2023
Codexis Announces Enhanced Strategic Focus and Extends Projected Cash Runway to Mid-2026
As part of this enhanced strategic focus, the Company is streamlining operations, including discontinuing investment in certain development programs, primarily in Biotherapeutics, consolidating operations to its headquarters and reducing headcount by approximately 25%.
June 26, 2023
Newborn Screening is a Lifesaver
Learn more about a new test to help babies with rare genetic disease get faster treatment.
June 2023
Rare Revolution Magazine: Striving for better
Homocystinuria (HCU) has been on the Recommended Uniform Screening Panel (RUSP) in the US for nearly 15 years, yet babies with the condition are still being missed at birth, risking serious health consequences. Danae' Bartke is the executive director of HCU Network America and has classical homocystinuria (HCU). She explains that while improvements in newborn screening processes can potentially help more babies to receive that vital early diagnosis, progress relies on each state updating their screening protocols: something her organization is working tirelessly towards.
May 31, 2023
- Data from the four patients treated with the highest dose of pegtibatinase showed a clinically meaningful 67.1% mean relative reduction in total homocysteine from baseline
- Pegtibatinase has been generally well-tolerated to date
- The Company is engaging with regulators and expects to initiate a pivotal Phase 3 Study by year-end 2023
April 5, 2023
Will Hummel has lived with homocystinuria, a condition where the body can't process methionine, his entire life. It's not limiting him, especially in his senior baseball season with Mechanicsburg.
March 27, 2023
21Investigates: Indiana tests for 35 of the recommended conditions in newborn screenings
FORT WAYNE, Ind. (WPTA) -In the state of Indiana newborns are screened for all but two of the conditions recommended for the screening panel. A mother who lives near Indianapolis tells 21Investigates she is thankful for that because her daughter’s condition was caught weeks after she gave birth.
March 20, 2023
- Presentations included full data from both the Phase 2 Synpheny-1 Study in PKU and Phase 1 Study for SYNB1353 as a potential treatment for HCU
March 15, 2023
November 30, 2022
Synlogic SYNB1353 Phase 1 Top-line Results (Investor Presentation)
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 Reports Third Quarter 2022 Financial Results and
Corporate Updates
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 Provides Clinical Progress and Regulatory
Update for Homocystinuria Program
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 5, 2022
August, 4 2022
Aeglea BioTherapeutics Reports Second Quarter 2022 Financial Results and Provides Program Updates
- 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
Travere Therapeutics Provides Regulatory Updates on its Development Programs
-
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).
August, 2022
Inside Colorado's Battle Against Rare Diseases
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
Drawing Blood to Advance New Therapies
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 Classical HCU
- 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 awards third research grant to Dr. Thomas McCorvie
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
HealthWell Foundation Broadens Homocystinuria Fund to Include Organic Acidemias
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
A Sisters Quest For A Cure:
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.
November 16, 2020
Retrophin Announces Corporate Name Change to Travere Therapeutics, Inc.
October 22, 2020
Retrophin Announces Agreement to Acquire Orphan Technologies
May 1, 2020
Interview with Dr. Ken Maclean
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
Cure for an orphan disease?
First human clinical trial is latest CU Anschutz-led milestone on homocystinuria
February 6, 2019
Orphan Technologies Announces First Patients Treated in Phase 1/2 Trial of OT-58 in Homocystinuria
- 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
First recipient of the CBS deficiency global grants program announced
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
Aeglea BioTherapeutics Announces Fall 2018 Medical Conference Schedule
Preclinical Efficacy Data of AEB4104 - a New Enzyme Approach - for the treatment of Homocystinuria
February 28, 2018
Early Detection Key to Best Treatment of Rare Diseases: Expert
August 23, 2017
