News

February 26, 2021February 25, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

News, syndicated

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 24, 2021

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

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

News, syndicated

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 18, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

News, syndicated

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

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 11, 2021

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

News, syndicated

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 6, 2021

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

News, syndicated

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

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, 2021January 29, 2021

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

News, syndicated

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

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