News

December 19, 2019December 19, 2019

Promising Early Data Supports Continuation of First Gene Therapy Trial for PKU, Homology Announces

News

Homology Medicines announced promising preliminary data from its trial testing the safety and efficacy of HMI-102, a candidate gene therapy for treating adults with phenylketonuria (PKU). The phase 1/2 trial, ... Read more

December 18, 2019January 4, 2020

Synlogic’s New Oral Form of Potential PKU Treatment, SYNB1618, Seen as Safe in Early Trial

News

Synlogic’s new solid oral formulation of its leading investigational candidate SYNB1618 for treating people with phenylketonuria (PKU) is safe in healthy volunteers, according to data from a bridging study. This positive ... Read more

December 11, 2019December 11, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. ... Read more

December 6, 2019December 6, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

News

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking ... Read more

December 4, 2019December 4, 2019

CNSA-001 Safely and Effectively Reduces Phenylalanine Levels in PKU Patients, Phase 2 Trial Shows

News

Censa Pharmaceuticals’ investigational oral therapy CNSA-001 (sepiapterin) is safe and more effective than Kuvan (sapropterin dihydrochloride) in reducing the levels of phenylalanine in people with phenylketonuria (PKU), data from a Phase 2 ... Read more

November 27, 2019November 27, 2019

Fundraising and Advocacy Efforts Set to Mark National PKU Awareness Day on Dec. 3

News

Fundraisers, and educational and advocacy activities are afoot to mark National PKU Awareness Day on Dec. 3. The National PKU Alliance (NPKUA) is leading efforts to observe the day set aside to ... Read more

November 20, 2019November 20, 2019

Rubius Recruiting Adults with Phenylketonuria to Test its RTX-134 Cell Therapy

News

Rubius Therapeutics is currently recruiting patients for its Phase 1b clinical trial that will evaluate the safety and early efficacy of RTX-134, its investigational cell therapy for phenylketonuria. RTX-134 uses ... Read more

November 13, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

News

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: ... Read more

November 13, 2019November 13, 2019

Aptatek’s At-home Monitoring System for PKU Wins Top Honor at Life Science Event

News

Digital health company Aptatek Biosciences won Best in Show honors for the digital at-home health maintenance system it’s developing for disorders such as phenylketonuria (PKU) at a recent Mid Atlantic Bio Angels ... Read more

November 6, 2019November 6, 2019

BioMarin Submits Clinical Trial Application to Evaluate BMN 307 Gene Therapy in UK Phenylketonuria Patients

News

BioMarin Pharmaceutical has submitted a clinical trial application (CTA) to the U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) to evaluate BMN 307 — its first investigational gene therapy for phenylketonuria (PKU) — ... Read more