Phenylketonuria News

March 3, 2021March 3, 2021

NICE Recommends Kuvan to Treat Children 18 and Younger

The National Institute for Health and Care Excellence (NICE) has issued draft guidance that recommends Kuvan (sapropterin), alongside a low-phenylalanine diet, for treating children younger than 18 who have phenylketonuria ... Read more

February 26, 2021February 26, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

COVID-19 News, Phenylketonuria News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more

February 24, 2021February 25, 2021

Survey Highlights Need to Align Adult PKU Treatment to Improve Patient Outcomes

Phenylketonuria News

A new survey of six Italian clinics found varying and inconsistent approaches for managing adult phenylketonuria (PKU), with insufficient PKU diet therapy and poor patient adherence to such eating plans. ... Read more

February 23, 2021February 23, 2021

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

COVID-19 News, Phenylketonuria News

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a ... Read more

February 19, 2021February 19, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

Phenylketonuria News

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare ... Read more

February 17, 2021February 17, 2021

Pig Model May Aid Work on PKU Treatments, Including Gene Therapies

Phenylketonuria News

A first-of-its-kind pig model of phenylketonuria (PKU) has been developed that could be useful in advancing potential disease treatments, including gene therapies. The model was described in the study “Development of a ... Read more

February 10, 2021February 10, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

COVID-19 News, Phenylketonuria News

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more

February 5, 2021February 7, 2021

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

Phenylketonuria News

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs ... Read more

February 3, 2021February 3, 2021

Kuvan Safely Aids Growth, Intellect of Youngest Patients Over Long Term, Trial Finds

Phenylketonuria News

Long-term treatment with Kuvan (sapropterin dihydrochloride) helped to control blood levels of phenylalanine, and preserve normal intelligence and growth in infants and children with phenylketonuria (PKU), a Phase 3 trial that ... Read more

January 29, 2021March 3, 2021

COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say

COVID-19 News, Phenylketonuria News

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to ... Read more

January 27, 2021January 27, 2021

Synlogic Recruiting Adult Patients for Phase 2 Trial of SYNB1618

COVID-19 News, Phenylketonuria News

Synlogic is recruiting patients for a proof-of-concept Phase 2 trial that is investigating SYNB1618, its investigational treatment for phenylketonuria (PKU), in adults with the disease. The open-label trial (NCT04534842), initially ... Read more

January 22, 2021February 23, 2021

NORD’s Caregiver Respite Program Continues Through Pandemic

COVID-19 News, Phenylketonuria News

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for ... Read more

January 20, 2021January 20, 2021

Liver-targeting Gene Therapy Reduces Extra Phenylalanine in PKU Mice

Phenylketonuria News

Delivering the human PAL gene — phenylalanine amino lyase — into the liver cells of phenylketonuria (PKU) mouse models via gene therapy can safely reduce excess phenylalanine in the long-term, ... Read more

January 13, 2021January 13, 2021

Homology Medicines’ Gene Therapy, Gene Editing Programs Advance

Phenylketonuria News

Homology Medicines has announced the next steps for its gene therapy and gene editing clinical programs for the treatment of phenylketonuria (PKU). “We ended 2020 with positive data from the dose-escalation ... Read more

January 11, 2021February 13, 2021

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

Phenylketonuria News

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient ... Read more