News

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 20, 2020November 18, 2020

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

News, syndicated

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how ... Read more

November 18, 2020November 18, 2020

NPKUA Urges Adult Patients to Join PKU Registry, Assist Research

News

The National PKU Alliance (NPKUA) is encouraging people with phenylketonuria (PKU) to join the PKU Registry, which is working to help scientists better understand and manage this disease, establish best practices, ... Read more

November 11, 2020November 11, 2020

HMI-102, Potential PKU Gene Therapy, Fares Well in Phase 1/2 pheNIX Trial

News

HMI-102, Homology Medicines‘ gene therapy candidate for adults with phenylketonuria (PKU), was well-tolerated and induced marked reductions in phenylalanine and phenylalanine-to-tyrosine ratio (Phe/Tyr ratio) in some patients. Those promising results ... 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 28, 2020October 28, 2020

Reduced Gray Matter Volume Found in Brain Region of Early-treated PKU Patients

News

People with phenylketonuria (PKU) who receive treatment soon after birth still experience significant reductions in the volume of gray matter, which contains mainly nerve cell bodies, in their cerebellum, a ... Read more

October 27, 2020October 28, 2020

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

News, syndicated

A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in ... Read more

October 21, 2020October 21, 2020

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

News

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 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

October 14, 2020October 14, 2020

FDA Approves Use of Higher Palynziq Doses in Adults With PKU

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