Phenylketonuria (PKU) News and Research

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Pediatric research project to expand data collection linked to newborn screening results

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

18 Jan 2012

State laws regarding baby blood samples analyzed

State laws and policies governing the storage and use of surplus blood samples taken from newborns as part of the routine health screening process range from explicit to non-existent, leaving many parents ill-informed about how their babies' left over blood might be used, according to a team led by a member of the Johns Hopkins Berman Institute of Bioethics, in collaboration with researchers from the University of Utah. A report on their analysis of the subject is published March 28 in the journal Pediatrics.

28 Mar 2011

Expansion of newborn screening throws some families on a journey of great uncertainty

Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

7 Dec 2010

BioMarin commences Phase 3b study of Kuvan's neuropsychiatric effects in phenylketonuria patients

BioMarin Pharmaceutical Inc. announced today that the first subject has initiated treatment in a Phase 3b study (PKU-016) to evaluate the effects of Kuvan (sapropterin dihydrochloride) on neuropsychiatric symptoms in subjects with phenylketonuria (PKU). BioMarin expects to report results in the first half of 2012.

18 Aug 2010

BioMarin provides update on PEG-PAL Phase 2 clinical study for phenylketonuria

BioMarin Pharmaceutical Inc. announced today an update in the Phase 2 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (PKU). Data reported in this announcement reflect preliminary results as of July 23, 2010. Complete top-line results are expected in the fourth quarter of 2010.

3 Aug 2010

BioMarin Pharmaceutical reports GAAP net income of $4.7M for fourth-quarter 2009

BioMarin Pharmaceutical Inc. today announced financial results for the fourth quarter and year ended December 31, 2009. GAAP net income was $4.7 million ($0.05 per diluted share) for the fourth quarter of 2009, compared to GAAP net income of $24.5 million ($0.21 per diluted share) for the fourth quarter of 2008, which included a $30.0 million payment from Merck Serono related to the approval of Kuvan in the EU.

24 Feb 2010

Call for every health insurance plan to cover Phenylketonuria

Credit Senators John Kerry (D-MA) and Robert Casey (D-PA) with a significant contribution to the health care debate: a bill ends a glaring disparity in the way Americans living with Phenylketonuria (PKU) control their potentially devastating disease, and the way others living with serious chronic conditions are treated. "The Medical Foods Equity Act of 2009" aims to save affected families thousands of dollars in out-of-pocket costs, cut long-term costs for the entire system, and offer 20,000 Americans a better shot at healthy, happy, and productive lives.

5 Dec 2009

Patent covering the approved administration of Kuvan with food issued

BioMarin Pharmaceutical Inc. announced today that the United States Patent and Trademark Office has issued a patent covering the approved administration of Kuvan® (sapropterin dihydrochloride) with food for the treatment of phenylketonuria (PKU). The patent expires in 2024.

6 Nov 2009

BioMarin commences PEG-PAL Phase 2 clinical trial for phenylketonuria

BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that the first patient has initiated treatment in the Phase 2 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (PKU). Initial top-line results are expected in mid-2010.

23 Sep 2009

Patients with Phenylketonuria face increased risk of developing severe neurological complications

Genetic researchers at Children's Memorial Hospital, Chicago, are aggressively identifying adult patients who suffer from the genetic disorder, Phenylketonuria (PKU), and are presenting those findings at the 11th International Congress of Inborn Errors of Metabolism in San Diego, August 29 through September 2.

26 Aug 2009

Research reveals new options for people with phenylketonuria

For people with the genetic condition known as phenylketonuria (PKU), diet is a constant struggle.

30 Mar 2009

BioMarin receives notice of allowance for Kuvan patent

BioMarin Pharmaceutical Inc. has announced that it has received a notice from the United States Patent Office reporting allowance of claims covering once daily dosing methods for Kuvan (sapropterin dihydrochloride) in the treatment of phenylketonuria (PKU).

30 Mar 2009

New drug shows promise for phenylketonuria

PKU is described by scientists as an autosomal recessive genetic disease that is characterized by a deficiency in an enzyme called phenylalanine hydroxylase (PAH).

15 Jan 2009

Merck Serono's Kuvan receives European marketing authorization

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, today announced that the European Commission has granted marketing authorization for Kuvan(R) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients.

10 Dec 2008

Drug therapy for phenylketonuria reverses heart damage

A pricy drug used to treat a rare but well-known genetic disorder may hold wider promise as a treatment for millions of Americans with potentially lethal enlarged hearts, due mainly to high blood pressure, a study from Johns Hopkins shows.

13 May 2008

Novel newborn screening kits developed by NovaUCD-based Enzolve Technologies

Enzolve Technologies, a UCD spin-out company based at NovaUCD the Innovation and Technology Transfer Centre at University College Dublin, has received substantial investment from Enterprise Ireland under the National Development Plan (2007-2013) and private investors.

29 Apr 2008

New phenylketonuria (PKU) treatment offered at Hayward Genetics Center

No pizza. No ice cream. No hotdogs and definitely no hamburgers. What sounds like a list of banned food for someone trying to lose weight is actually a way of life for children with a rare metabolic disorder, phenylketonuria (PKU), which prevents digestion of an essential amino acid found in most meats, eggs, dairy products, nuts and breads.

10 Jan 2008

BioMarin Pharmaceutical announces FDA approval for Kuvan

BioMarin Pharmaceutical Inc. has announced that the U.S. Food and Drug Administration (FDA) has granted marketing approval for Kuvan(TM) (sapropterin dihydrochloride) Tablets, the first specific drug therapy approved for the treatment of phenylketonuria (PKU).

14 Dec 2007

BioMarin files investigational NDA for PEG-PAL for the treatment of phenylketonuria

BioMarin Pharmaceutical Inc. has announced that it has filed an investigational new drug application (IND) with the U.S. Food and Drug Administration (FDA) for PEG-PAL (Poly Ethylene Glycol-Phenylalanine Ammonia Lyase), formerly known as Phenylase, for the treatment of phenylketonuria (PKU).

27 Nov 2007