Phenylketonuria News

July 22, 2020July 22, 2020

Long-term Palynziq Therapy Reduces Phenylalanine Levels in Adult Patients

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

July 10, 2020July 11, 2020

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

Phenylketonuria News

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

Phenylketonuria 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 2, 2020July 2, 2020

We Are Both Carriers of PKU. What Are Our Reproductive Options?

Phenylketonuria News

If you and your partner are both carriers for phenylketonuria (PKU), you should meet with a genetic counselor. The counselor can tell you about your risks of passing the disease to ... Read more

July 1, 2020July 2, 2020

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

Phenylketonuria 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

COVID-19 News, Phenylketonuria 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

June 22, 2020July 23, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

COVID-19 News, Phenylketonuria News

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support ... Read more

June 17, 2020June 17, 2020

Gene Editing Approach for PKU Children Shows Precise Correction in Mice

Phenylketonuria News

The gene editing approach being investigated by Homology Medicines to potentially treat children with phenylketonuria (PKU) is delivered to liver cells with high efficacy and without causing unwanted changes in ... Read more

June 9, 2020July 11, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

COVID-19 News, Phenylketonuria News

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for ... Read more

May 29, 2020June 30, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

COVID-19 News, Phenylketonuria News

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies ... Read more

May 27, 2020May 27, 2020

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

Phenylketonuria 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

May 25, 2020June 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

Phenylketonuria News

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was ... Read more

May 21, 2020June 22, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

COVID-19 News, Phenylketonuria News

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, ... Read more

May 20, 2020May 20, 2020

Homology’s Potential Gene-editing Strategy for PKU Shows Promise in Animal Model

Phenylketonuria News

A single dose of the gene-editing construct used in Homology Medicines‘ investigational therapy for phenylketonuria (PKU) in children, shows high efficiency and precision in inserting a fully functional copy of ... Read more