PTC Therapeutics has achieved a significant milestone with the U.S. Food and Drug Administration’s (FDA) approval of SEPHIENCE™ (sepiapterin), marking the first and only therapy approved for broad treatment of…
Patient Worthy is grateful to provide you this story on behalf of the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria. E.S.PKU is the umbrella organization of about 41…
Phenylketonuria, or PKU, is a rare inborn error of metabolism caused by a defect in the PAH gene that prohibits the correct production of an enzyme needed to process the…
Written by Kevin Alexander, Storyteller, Musician, PKU Advocate, Podcaster “I’m not trying to live a ‘normal’ life. Normal is overrated. I’m trying to live my life.” I had that…
Hudson Reynolds learned about rare disease when his sister Tia was diagnosed with phenylketonuria (PKU). PKU is an inborn error of metabolism which causes phenylalanine, an amino acid, to build…
Within the Phase 3 APHENITY study, researchers worked to determine the efficacy of sepiapterin in both adults and children with phenylketonuria (PKU). Formerly known as PTC923, sepiapterin was developed…
According to a news release from mid-January 2023, the FDA granted Rare Pediatric Disease designation to SYNB1934 for phenylketonuria. This designation is granted to drugs or biologics being developed for…
Written by: Kala McWain There is no amount of time that can fully prepare you for the hard work and sacrifices it takes to be a good parent. These challenges…
The FDA has just announced that they have lifted the temporary hold placed on pheNIX gene therapy. This gene therapy was created by Homology Medicine as an investigational treatment for…
According to a recent article, patients with phenylketonuria (PKU) are unable to eat proteins because of their condition. However, a new probiotic might be the solution. Phenylketonuria (PKU) PKU is…
Previously, clinical-stage genetic medicines company Homology Medicines, Inc. ("Homology") submitted an Investigational New Drug (IND) application to the FDA for HMI-103, an investigational gene editing therapy designed to treat phenylketonuria…
Unfortunately, clinical trials do not always proceed the way that drug developers - and patients - hope. For example, an ongoing Phase 1/2 clinical trial evaluating BMN 307, an investigational…
According to a story from News Nation USA, eight-year-old Lilly-Ann Woolliss of Immingham was diagnosed with phenylketonuria (PKU) when she was born. As a result, she must consume a diet…
What do phenylketonuria (PKU), galactosemia, and maple syrup urine disease (MSUD) have in common? All three are considered inborn errors of metabolism, or rare genetic disorders in which the…
Many rare disease patients are familiar with high prices for treatment. In fact, the most expensive medication in the world treats a rare disease: Zolgensa, a gene therapy for spinal…
In late May 2021, biopharmaceutical company PTC Therapeutics, Inc. ("PTC") shared that its therapy, PTC923, received Orphan Drug designation within both the United States and Europe. The treatment is designed…
Gene therapies are becoming an increasingly popular treatment for genetic diseases, especially rare ones. Now, medical professionals are trying a new strategy with gene therapy: adding acetaminophen, also known by…
The month of May is recognized as PKU Awareness Month, a time of year set aside to focus on spreading awareness about phenylketonuria (PKU) among the general public and in…
As reported in the Northhampton Chronicle;, sometimes it's our toughest challenges that inspire us to grow taller than we thought possible and to push past our notions of our limits.…
Nash Hensley is six years old, but in his short life he's already faced many challenges. He was diagnosed at birth with not one, but two rare diseases. First, Nash…
Every year, an estimated 3-7 children in Norway are born with phenylketonuria (PKU), a rare genetic disorder characterized by an inability to break down phenylalanine. Researchers in Norway wanted to…
According to a story from express.co.uk, a treatment for phenylketonuria (PKU) is currently under consideration for coverage on the UK's National Health Service (NHS). The treatment is called Kuvan and…
Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) The RDCA-DAP, funded by the FDA, was first launched in September of 2019. Its aim was to make data more accessible for…
The company Lidl GB has just announced a recall for Cologran Stevia tablets. These sweeteners contain aspartame, or E951. Although not harmful for most people, it is essential for this…
On October 2, 2020, biotechnology company BioMarin Pharmaceutical ("BioMarin") announced that its investigational gene therapy candidate BMN 307 received the Fast Track designation from the FDA. The therapy is designed…
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