Posts by: Marisa Wexler

News

The National Institute for Health and Care Excellence (NICE) has issued draft guidance that recommends Kuvan (sapropterin), alongside a low-phenylalanine diet, for treating children younger than 18 who have phenylketonuria ...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

December 9, 2020December 9, 2020

New Paper-based Sensor Could Help Monitor PKU, Study Finds

News

A novel sensor that combines plant enzymes and nanomaterials can be used to measure levels of the amino acid phenylalanine in human blood, a new study shows. The sensor may be ... Read more

November 25, 2020November 25, 2020

Pfizer Invests in Homology Medicines, Supporting Gene Therapies for PKU

News

Homology Medicines, which specializes in gene therapies for rare diseases and is developing two potential such therapies — HMI-102 and HMI-103 — for people with phenylketonuria (PKU), has received a $60 million equity investment from Pfizer. ... Read more

November 4, 2020November 2, 2020

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

News, syndicated

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations ... Read more

October 19, 2020October 19, 2020

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

News, syndicated

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series ... Read more

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

May 27, 2020May 27, 2020

Plant-based Capsule Shell May Lead to Oral Enzyme Therapies for PKU, Study Suggests

News

Using extracts from plants in oral capsule formulations could lead to enzyme therapies that resist the acidic environment of the stomach and effectively treat phenylketonuria (PKU), an early study suggests. The ... Read more

April 8, 2020April 8, 2020

Phase 2 Trial of SYNB1618 in PKU Likely to Be Delayed Due to COVID-19

News

A planned Phase 2 clinical trial of Synlogic’s SYNB1618, an investigational treatment for people with phenylketonuria (PKU), is expected to be delayed due to the COVID-19 pandemic, the company said. Although ... Read more