News

August 20, 2020August 20, 2020

Genetic Sequencing Alone Insufficient as Newborn Screening Tool, Study Finds

News

Genetic sequencing alone is not sufficient for newborn screening of metabolic disorders such as phenylketonuria, a new study indicates. The study, “The role of exome sequencing in newborn screening for ... Read more

August 17, 2020August 17, 2020

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

News, syndicated

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The ... Read more

August 12, 2020August 12, 2020

New Streaming Channel Showcases Rare Disease Films

News, syndicated

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films ... Read more

August 5, 2020August 5, 2020

NORD Awards Grants to Help Rare Disease Organizations Adapt to Pandemic

News

The National Organization for Rare Disorders (NORD) has awarded 19 grants to nonprofit organizations, including the National PKU Alliance, as part of its COVID-19 Rapid Response Leadership Series program. The grants are intended to ... Read more

July 22, 2020July 22, 2020

Long-term Palynziq Therapy Reduces Phenylalanine Levels in Adult Patients, Analysis Shows

News

Long-term treatment with Palynziq (pegvaliase-pqpz) led to a sustained reduction of blood phenylalanine levels in adults with phenylketonuria (PKU) for more than two years, an analysis of three clinical trials has found. ... Read more

July 15, 2020July 15, 2020

Palynziq ‘Challenging’ But ‘Powerful’ Treatment for PKU, Real-life Study Reports

News

The enzyme substitution therapy Palynziq (pegvaliase-pqpz) lowered blood phenylalanine levels in most adults with phenylketonuria (PKU) treated at the PAL Clinic of Boston Children’s Hospital, a study reported. Side effects were common ... Read more

July 10, 2020July 10, 2020

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

News, syndicated

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in ... Read more

July 8, 2020July 8, 2020

Healthy Diet Key for PKU Women to Deliver Healthy Babies, Study Suggests

News

Women with phenylketonuria (PKU) can deliver healthy babies if they maintain an appropriate diet that keeps blood phenylalanine levels in normal range prior to and throughout pregnancy, a study from China ... Read more

July 1, 2020July 1, 2020

Amino Acid Supplements Improve Cognitive Function, Quality of Life in Adults With PKU, Study Finds

News

Supplementation with large neutral amino acids (LNAAs) improves cognitive function and overall well-being in adults with phenylketonuria (PKU) who poorly adhered to their dietary regimen, a study suggests. The study, ... Read more

June 24, 2020June 24, 2020

Activities, Events Ready for June 28 – International PKU Day

News

Activities and events have been planned to raise public knowledge and understanding of phenylketonuria (PKU) on June 28 — International Phenylketonuria Day. Due to the ongoing COVID-19 pandemic, the day ... Read more