News

October 7, 2020October 7, 2020

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

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

October 6, 2020October 6, 2020

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

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Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, ... Read more

September 28, 2020September 28, 2020

Efforts Continue Beyond Awareness Month to Expand Newborn Screening Panels in US

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It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found ... Read more

September 23, 2020September 23, 2020

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

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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

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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

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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

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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

September 2, 2020September 2, 2020

Same But Different Photo Contest Celebrates People With Rare Diseases

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Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A ... Read more

August 26, 2020August 26, 2020

Eye Exam May Help Assess PKU Severity, Study Suggests

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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, 2020August 25, 2020

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

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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