BioMarin and La Jolla Pharmaceutical Sign Worldwide (Excluding Asia Pacific) Development and Commercialization Agreement for Riquent Jan 7, 2009
We look forward to the first interim analysis of the ASPEN trial data which is expected to occur later in this quarter," continued Dr. Gillespie. Overview of Deal Terms Under the terms of the agreement, BioMarin will receive a co-exclusive license to develop and commercialize Riquent and La Jolla could receive up to $289 million in cash through milestones and equity purchases by BioMarin. Specific payments include: $15 million upfront, up to approximately $92.5 million related to clinical... (PR Newswire)
BioMarin Announces the Planned Retirement of Dr. Emil Kakkis, Chief Medical Officer Nov 22, 2008
Approved products include Naglazyme(R) (galsulfase) for mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin; Aldurazyme(R) (laronidase) for mucopolysaccharidosis I (MPS I), a product which BioMarin developed through a 50/50 joint venture with Genzyme Corporation; and Kuvan(R) (sapropterin dihydrochloride) Tablets, for phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of Darmstadt, Germany. Other product candidates... (PR Newswire)
LETTERS: NCT, Nov. 21, 2008 Nov 22, 2008
If they were we wouldn't have cystic fibrosis, hemophilia, Tay Sachs, PKU, etc. If you want to hate gays, genetics is not on your side. (North County Times)
March for Babies kicks off Saturday Nov 1, 2008
March of Dimes research is responsible for pivotal findings,] such as surfactorant therapy, the Apgar Test, the PKU test, as well as establishing 21 state mandated tests for newborn babies to identify life threatening birth defects, Millhollon said. Article Rating. (Durant Daily Democrat, OK)
High-tech protection Oct 3, 2008
The model is based on the first routine genetic test, for phenylketonuria, or PKU, which causes severe mental retardation unless a strict diet is followed. Montana first began screening for PKU in 1973, at which time it also began treating for hypothyroidism, which causes a severe form of retardation called cretinism. (Helena Independent Record, MT)
Day 15: Mitcham ruins China's clean sweep in diving, Games hit by controversies, scandals Aug 24, 2008
Ma Lin of China competes in Men's Singles Gold Medal Match against Wang Hao of China of Beijing 2008 Olympic Games table tennis event at PKU Gymnasium in Beijing, China, Aug. 23, 2008. Ma Lin defeated Wang Hao 4-1, and won the gold medal of the event. (Xinhuanet, China)
Katzen: Beacon Hill Roll Call Aug 7, 2008
Patrick also vetoed a provision providing that $75,000 of the funds be used for the operation of the New England Connection for PKU and Allied Disorders, an organization that provides patient and family education and support for people diagnosed with phenylketonuria ... In his veto message, Gov. Patrick said, I am striking language which earmarks funding for the NECPAD program for people with PKU that is not recommended, and I am reducing this item to an amount projected to be necessary. (Wakefield Observer, MA)
Beacon Hill Roll Call: Senate approves voter registration on Election Day Aug 5, 2008
Patrick also vetoed a provision providing that $75,000 of the funds be used for the operation of the New England Connection for PKU and Allied Disorders (NECPAD), an organization that provides patient and family education and support for people diagnosed with Phenylketonuria (PKU). According to the group's website, PKU is "a rare, inherited condition that prevents your body from metabolizing phenylalanine (Phe), which is one of the amino acids that are joined together to form proteins. When the... (Cambridge Chronicle, MA)
Drug gives PKU sufferers chance to eat protein Jul 26, 2008
Slug: pku-protein Date: 2008-07-27 00:00:00 Version: original Wire Category: A Words: 632 Bytes: 23040 E-Pub: Y Use Warning: Must credit Pittsburgh Post-Gazette ... girl was born with PKU, or phenylketonuria, a genetic disease that leaves the patient unable to process protein because of a deficiency of the enzyme needed to break it down ... Until last year, the only way of controlling PKU was through an extremely protein-restricted diet and sometimes foul-smelling dietary supplements. (Scripps Howard News Wire)
SCRIPPS HOWARD NEWS SERVICE CONSOLIDATED BUDGET Jul 26, 2008
PKU-PROTEIN (Smith, Pittsburgh Post-Gazette) -- PITTSBURGH: A new drug gives PKU sufferers a chance to eat protein. 600. (Scripps Howard News Wire)
Bringing Stability To The Protein Defective In Phenylketonuria Jul 7, 2008
ScienceDaily (July 6, 2008) Phenylketonuria (PKU) is an inherited disease characterized by progressive mental retardation and seizures because the individual is deficient in the protein PAH. ... Most of the genetic mutations that cause PKU do so because the PAH protein that is generated by the mutated gene is not stable enough to function ... New data, generated by Aurora Martinez and colleagues, at the University of Bergen, Norway, suggest that it might be possible to stabilize the mutated PAH... (Science Daily)
More of this story Jul 6, 2008
B.J. Pennington, 16, has PKU (phenylketonuria), a genetic disorder characterized by an inability of the body to utilize phenylalanine, an essential amino acid ... A nearby source of advice is Jacob Pennington, 22, B.J.'s brother who also has PKU, and who recently graduated from Southern Arkansas University in Magnolia with a bachelor degree in agriculture science. (Searcy Daily Citizen, AR)
Three Required Newborn Tests May 18, 2008
New Babies are Checked For Hypothyroidism, PKU, and Galactosemia ... Three tests that are routine and required include screenings for hypothyroidism, PKU, and galactosemia ... PKU is a fairly rare disorder found in 1 in 15,000 newborns globally. (Suite101.com)
Drug Therapy For PKU Reverses Heart Damage, Study Shows May 15, 2008
The common denominator in both phenylketonuria (PKU) and cardiac hypertrophy is the chemical tetrahydrobiopterin (BH4). In PKU, this enzyme coworker helps break down the molecule phenylalanine whose buildup is toxic to the brain ... Doctors have used BH4 and diets that exclude phenylalanine for almost a decade to treat PKU, a so-called inborn error of metabolism that if left untreated causes irreversible brain damage. (Science Daily)
Area March of Dimes Ambassador named May 2, 2008
Earlier March of Dimes work pays off in the development of the PKU test. This allows some forms of mental retardation to be prevented. (Demotte Kankakee Valley Post News, IN)
Cystic fibrosis screening begins this month Mar 28, 2008
Joan Eggers, OB coordinator at Perry Memorial Hospital in Princeton, said the new test is part of the PKU test, which many parents are already familiar with. The PKU test, which looks for phenylketonuria and other disorders, will now be used to look for 37 different disorders ... There also won t be any additional cost for the parents, as Eggers said parents are not usually charged for the PKU test. (Princeton Bureau County Republican, IL)
Charitable Foundation golf tourny planned Mar 20, 2008
- New England Connection for Phenylketonuria (PKU) and Allied Disorders, a non-profit organization run by a board of volunteers for the sole purpose of providing support, food requests, activities, educational programs, family weekends and a bi-annual conference for adults and children, in New England, afflicted with PKU, a rare genetic imbalance which, if left untreated, will cause irreversible brain damage. - Juvenile Diabetes Research Foundation, local chapter in Hamden, Conn. (Ivorytown Beacon, CT)
Task Force Confirms Newborn Screening Advice Mar 15, 2008
Screening babies for hypothyroidism and phenylketonuria (PKU), as the conditions are called, is currently mandated in all 50 states, the US Preventive Services task force notes in a "Reaffirmation Recommendation Statement" released in the Annals of Family Medicine. The USPS first recommended that all newborns be screened for congenital hypothyroidism and PKU in 1996 ... In PKU, which occurs in one in every 13,500 to 19,000 newborns, the body is unable to process phenylalanine, leading to a... (MEDLINEplus)
Unique Whey Protein Is Promising Supplement For Strict PKU Diet Feb 5, 2008
4, 2008) Individuals with a rare genetic condition known as phenylketonuria, or PKU, receive a difficult-to-follow prescription ... More importantly, mice with a version of PKU fared well on this whey protein diet and had relatively low levels of PKU-associated toxins in their brain tissue and blood ... These findings open the door to the possibility that individuals with PKU will be able to eat foods enriched with the whey protein. (Science Daily)
New drug helps some with rare disorder eat without fear Jan 20, 2008
have a rare genetic disorder called phenylketonuria, or PKU. It causes mental retardation and other neurological problems unless people maintain a strict low-protein diet. The first drug for the condition, approved last month, is allowing many people with PKU to eat more foods ... An experimental protein being studied at UW-Madison, a hub for PKU research, also could someday broaden patients food choices. (La Crosse Tribune, WI)
Fairview Specialty Pharmacy Signs Contract With BioMarin for Distribution of Kuvan(TM) Jan 9, 2008
MINNEAPOLIS, Jan. 8 /PRNewswire/ -- Fairview Specialty Pharmacy today announced that it has been selected by BioMarin Pharmaceutical, Inc. to be a participating pharmacy in the specialty pharmacy limited distribution network for Kuvan(TM) (sapropterin dihydrochloride) Tablets, the first specific drug therapy approved for the treatment of phenylketonuria (PKU) ... Kari Amundson, Fairview Specialty Pharmacy Director, commented, "We are pleased to be selected by BioMarin to launch this new drug... (PR Newswire)
Assembling the jigsaw puzzle of drug addiction Jan 5, 2008
Public release date: 4-Jan-2008. Using an integrative meta-analysis approach, researchers from the Center for Bioinformatics at Peking University in Beijing have assembled the most comprehensive gene atlas underlying drug addiction and identified five molecular pathways common to four different addictive drugs. (EurekAlert!)
Did she miss a chance to boost her chances? Dec 31, 2007
He has a rare disorder, phenylketonuria, or PKU, that can cause mental retardation ... Saskatchewan expanded its program in 2001 to 19 of the 29 diseases from the two for which most provinces had tested since the 1960s PKU and congenital hypothyroidism. (Globe and Mail)
Triplets born premature, today healthy Dec 31, 2007
She had PKU (phenuylketonuria), a genetic disorder that is characterized by an inability of the body to utilize the amino acid, phenylalanine. Amino acids are the building blocks for body proteins. (Pine Bluff Commercial, AR)
Kuvan Sanctioned for PKU Dec 15, 2007
THURSDAY, Dec. 13 (HealthDay News) -- A drug called Kuvan (sapropterin dihydrochloride) has been approved for treatment of a rare genetic disorder called tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU), the U.S. Food and Drug Administration said Thursday ... Kuvan is the first drug approved to slow the effects of PKU. ... People with PKU aren't able to break down phenylalanine (Phe), an amino acid found in foods that contain proteins, such as meat, dairy and egg products. (MEDLINEplus)
Nationwide Children's Hospital involved in expanded access program for treatment of PKU Nov 6, 2007
Nationwide Childrens Hospital announced today its involvement in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria (PKU), a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation ... Individuals with PKU are born with a deficient enzyme called phenylalanine hydroxylase (PAH) ... The only way that PKU patients can manage their disorder is by monitoring... (EurekAlert!)
At S$70, TMS test can save a baby Aug 31, 2007
And yet phenylketonuria (PKU), a rare condition that causes harmful build-up of an amino acid in the blood, can be overlooked despite its easy detection by administering a S 70 test. Doctors are now urging for broader adoption of the non-compulsory tandem mass spectrometry (TMS) test, which screens for 29 inborn defects, to avoid potentially tragic scenarios. (Channel NewsAsia, Singapore)
Most Babies Receive Recommended Newborn Tests, But Half A Million Still Not Screened For Serious Genetic Disorders Jul 15, 2007
Massachusetts had been a leader in newborn screening when, in the early 1960s, it became the first state to routinely screen all newborns for PKU (phenylketonuria), an inherited metabolic disorder that, if untreated, causes severe mental retardation. But today Massachusetts requires screening for only 12 of the 29 core conditions. (Science Daily)
Most US Newborns Now Screened for Genetic Disease Jul 12, 2007
Sickle cell anemia, congenital hypothyroidism, cystic fibrosis, hearing loss, phenyiketonuria (PKU, an enzyme deficiency), congenital adrenal hyperplasia, and galactosemia (another enzyme deficiency) are some of the most common genetic conditions included in the American College of Medical Genetic's list of 29 recommended screenings. The screening test for 28 of the conditions involves taking a drop of blood from a newborn's heel before the baby leaves the hospital. (Forbes)
A Call For More Newborn Screening Jul 12, 2007
"If (PKU) is not corrected, then toxins build up in the baby's system and it can be fatal, or it can result in something really terrible like severe mental retardation. But the good news is it can be detected early and treated." ... The diseases that the March of Dimes calls to be tested for are mostly genetic diseases, such as PKU. PKU is an enzyme deficiency and can have terrible consequences if it's not detected early ... Howse said, "If (PKU) is not corrected, then toxins build up in the... (CBS News -- Early Show)
Newborn testing expands to more states, disorders Jul 11, 2007
In the early 1960s, Massachusetts became the first state to screen all newborns for PKU (phenylketonuria), a metabolic disorder. Massachusetts Department of Public Health spokeswoman Donna Rheaume says in an e-mail that 98% of children born in the state since 1999 have been screened for all of the conditions on the American College of Medical Genetics' list. (USA Today -- News)
Babysitter 'murdered girl' Jul 4, 2007
Mr O'Byrne said Courtney was a fit, healthy child, but did suffer from a condition known as PKU, a protein deficiency, which could lead to severe learning difficulties if left untreated. Giving evidence for the prosecution, Mr Elliott told Mr O'Byrne that the baby had been crying and that they had struggled to calm her down. (BBC News -- UK)
Parents Support Genetic Testing, DNA Biobanks, Study Finds Jun 29, 2007
Each year through state newborn screening programs, about 4 million newborns in the United States undergo testing for several genetic diseases including sickle cell, cystic fibrosis, and phenylketonuria (PKU). Using just a few drops of blood, genetic testing may indicate whether a child is at risk for developing a disease later in life. (Science Daily)
BioMarin widens access to drug awaiting approval Jun 19, 2007
Kuvan is a treatment for the genetic disorder phenylketonuria, or PKU. Novato-based BioMarin (NASDAQ: BMRN) is developing it with and turned in an application to the FDA for approval last month ... PKU affects about 50,000 people in the developed world. (San Francisco Business Journal)
Lower Premiums Can Cost More in Long Run With Maternity Care Jun 14, 2007
Some policies, for instance, restricted coverage for PKU (Phenylketonuria) formula and for treatment for congenital or genetic birth defects such as cleft palate. The details of the newer plans are also often difficult to figure out and language is often vague or ill-defined (such as "complications of pregnancy"). (MEDLINEplus)
Scientists Map DNA of Research Monkeys Apr 16, 2007
About one in 14,000 babies is born with PKU, or phenylketonuria, meaning their bodies can't process a protein found in most foods called phenylalanine. Without treatment, PKU causes mental retardation ... But in macaques, the gene defect that causes PKU seems to cause no harm, suggesting they may somehow compensate in a way people can't. (Forbes)
Macaque genome decoded Apr 13, 2007
One example found is phenylketonuria (PKU) which can lead to brain damage and mental retardation because the human lacks an important enzyme. The research indicates macaques diverged from our ancestors 25 million years ago. (BBC News -- Science)
FROM THE EDITOR: Hope blew in on Blizzard of 1978 Feb 11, 2007
"Mr. and Mrs. Unger, I have some bad news to tell you. Your daughter has a very rare genetic disorder. It's called phenylketonuria, PKU, and it's the thing we test for at birth, a little prick we make on the back of the heel when a baby is born. That's why she has a Band-Aid on her heel. About one in 25,000 babies are born with it, and I don't know much about it, except that it often causes severe mental retardation, emotional disorders and serious heart problems." ... PKU used to be... (The Standard-Times, MA)
High rates of autism alarming Feb 9, 2007
The CDC says it's likely there are multiple causes "due to complex interaction of genetic and environmental factors." For most cases, it adds, the cause is not known although it tends to occur more frequently than expected with certain other medical conditions, including Fragile X syndrome, tuberous sclerosis, congenital rubella and untreated phenylketonuria (PKU). Utah had the most striking difference in the rates of autism among males vs. females, at 7 to 1. (Deseret News)
Missouri lawmakers get lesson on PKU from a 4-year-old sufferer Jan 25, 2007
his will help provide children with phenylketonuria (PKU) and other metabolic disorders with the special formula they need, Shields said ... PKU is a disease in which a person's body cannot properly process the amino acid phenylalanine found in protein and when eaten can cause a severe reaction and onset of developmental disabilities ... hree years ago, people didn't even know what PKU was, so this has been an educational experience. (Jefferson City News Tribune, MO)
Cystic fibrosis screening added to tests done on Alaska babies Jan 24, 2007
Today, the state health department requires screening Alaska babies for about 30 genetic and metabolic disorders including phenylketonuria (often called PKU) and hypothyroidism, said Thalia Wood, who oversees the state's newborn metabolic screening program. These problems are caused by an absence of enzymes or hormones. (Anchorage Daily News)
Mid-Missouri legislators head to the trenches to fight for their bills Jan 15, 2007
Deeken also wants to help children with PKU, a genetic disorder characterized by an inability of the body to utilize an essential amino acid ... But the savings can mean the difference between life and death to PKU-affected families. (Jefferson City News Tribune, MO)
BioMarin to Present at the JPMorgan 25th Annual Healthcare Conference Jan 8, 2007
Investigational product candidates include Phenoptin(TM) (sapropterin dihydrochloride), a Phase 3 product candidate for the treatment of phenylketonuria (PKU), and 6R-BH4 for cardiovascular indications, which is currently in Phase 2 clinical development for the treatment of poorly controlled hypertension. Naglazyme(R) is a registered trademark of BioMarin Pharmaceutical Inc. Aldurazyme(R) is a registered trademark of BioMarin/Genzyme LLC. Contacts: Investors and Media Eugenia Shen BioMarin... (PR Newswire)
BioMarin Initiates Phase 2 Clinical Study of 6R-BH4 in Peripheral Arterial Disease Jan 5, 2007
6R-BH4 is the same enzyme cofactor currently being evaluated in BioMarin's Phenoptin(TM) (sapropterin dihydrochloride) for phenylketonuria (PKU). In March 2006, BioMarin and Serono, BioMarin's corporate partner for the Phenoptin and 6R-BH4 programs, announced positive results from the Phase 3 clinical study of Phenoptin for PKU. All primary and secondary endpoints of the study were met ... Investigational product candidates include Phenoptin(TM) (sapropterin dihydrochloride), a Phase 3 product... (PR Newswire)
