Phenylketonuria News

October 21, 2020October 21, 2020

Dr. Reddy’s Launches Generic of Kuvan for PKU Patients in the US

Dr. Reddy’s Laboratories has launched a generic version of BioMarin Pharmaceuticals’ Kuvan for the treatment of adults and children with phenylketonuria (PKU) in the U.S. This generic will be distributed ... Read more

October 14, 2020October 14, 2020

FDA Approves Use of Higher Palynziq Doses in Adults With PKU

Phenylketonuria News

The U.S. Food and Drug Administration (FDA) has agreed to increase the maximum Palynziq (pegvaliase-pqpz) dose allowed for treating adults with phenylketonuria (PKU), BioMarin announced. While the maximum dose previously ... Read more

October 7, 2020October 7, 2020

Phase 1/2 Trial of Potential Gene Therapy for PKU Doses First Patient

Phenylketonuria News

A Phase 1/2 clinical trial evaluating BioMarin Pharmaceutical’s investigational gene therapy BMN 307 for people with phenylketonuria (PKU) has dosed its first patient. Enrollment is ongoing at the University Hospital Birmingham NHS Foundation Trust ... Read more

September 23, 2020September 23, 2020

Prolonged-Release Protein Substitute Seen to Cause Fewer GI Problems in PKU Children

Phenylketonuria News

Compared with conventional low-phenylalanine protein substitutes, a prolonged-release protein substitute caused fewer gastrointestinal problems in children and adolescents with phenylketonuria (PKU), a study has found. The study, “An Observational Study ... Read more

September 16, 2020September 16, 2020

Genetic Variation in Phenylalanine Protein Linked to Weight Gain in PKU Infants

Phenylketonuria News

A specific variation in a gene associated with phenylalanine transport is strongly linked to weight gain and an increased risk of obesity in infants with phenylketonuria (PKU), a recent study ... Read more

September 10, 2020September 10, 2020

Activities Underway for Newborn Screening Awareness Month

Phenylketonuria News

As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s ... Read more

September 9, 2020September 9, 2020

Amino Acid Supplement Improves Adherence to Medication in Adults With PKU, Study Finds

Phenylketonuria News

A slow-release formulation of large neutral amino acids (LNAAs) improves adherence to treatment and quality of life in adults with phenylketonuria (PKU), a study suggests. The study, “The Impact of a Slow-Release ... Read more

August 26, 2020August 26, 2020

Eye Exam May Help Assess PKU Severity, Study Suggests

Phenylketonuria News

The thickness of the retinal nerve fiber layer, or RNFL — a light-sensitive tissue layer of the eye — correlates with the levels of the amino acid phenylalanine and with cognitive ... Read more

August 25, 2020September 28, 2020

Xperiome Platform Aims to Streamline Searches for Rare Diseases, Gain Patient Input

Phenylketonuria News

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input ... Read more

August 20, 2020August 20, 2020

Genetic Sequencing Alone Insufficient as Newborn Screening Tool, Study Finds

Phenylketonuria 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 18, 2020

EveryLife Foundation Launches Scholarship Fund for Rare Disease Community in US

Phenylketonuria News

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, 2020September 13, 2020

New Streaming Channel Showcases Rare Disease Films

COVID-19 News, Phenylketonuria News

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 6, 2020

NORD Awards Grants to Help Rare Disease Organizations Adapt to Pandemic

COVID-19 News, Phenylketonuria 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

Phenylketonuria 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

Phenylketonuria 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