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Tuesday, August 31, 2010

Pharmaxis in deal to support launch of cystic fibrosis drug

Pharmaxis in deal to support launch of cystic fibrosis drug

Eli Greenblat

August 31, 2010 - 4:07PM

Biotech company Pharmaxis says it has finalised a strategic marketing and sales service agreement for the commercialisation of its cystic fibrosis drug, Bronchitol, for use in Europe.

The company said this morning that ahead of anticipated regulatory approval for Bronchitol, it had signed a six-year agreement with the highly respected Quintiles organisation to support the launch and commercialisation of the product in Western Europe.

Pharmaxis acting chief executive Gary Phillips said: “This important development means that Pharmaxis will move into the key European markets with a clear commercialisation plan. We will be bringing on board the European expertise and capabilities of a well recognised team of leaders in the field.

“Bronchitol is a new advance in the treatment of cystic fibrosis and it’s vital that we engage fully with the CF communities, healthcare professionals, funding bodies and governments across Europe as efficiently as possible.’’

Quintiles is a global biopharmaceutical services company offering clinical, commercial, consulting and capital solutions. The Quintiles network employs 20,000 people across 60 countries.

Two completed Phase 3 clinical trials of Bronchitol have demonstrated early and sustained improvement in lung function in people with cystic fibrosis. The product has been granted orphan drug designation by the European Medicines Agency, which helps accelerates its development and path to commercialisation.

Pharmaxis plans to launch Bronchitol across Western Europe, initially in Germany and the UK in the first quarter of 2011.

The Pharmaxis contract sales representatives will be supported and managed by the Quintiles organisation throughout Western Europe while marketing and market support will be managed by the Pharmaxis office in the UK.



Saturday, August 28, 2010

Luminex Announces Commercial Launch of New Cystic Fibrosis Test

Luminex Announces Commercial Launch of New Cystic Fibrosis Test

Download image AUSTIN, Texas, Aug. 26 /PRNewswire-FirstCall/ -- Luminex Corporation (Nasdaq: LMNX), the worldwide leader in multiplexed solutions, today announced the full commercial launch of its xTAG® Cystic Fibrosis 60 Kit v2, a new diagnostic test that can simultaneously screen a single blood sample for up to 60 cystic fibrosis-causing genetic mutations in a matter of hours.

The test is the most comprehensive and flexible FDA-cleared cystic fibrosis (CF) test available, featuring an unsurpassed level of gene mutation coverage. It will be used to screen potential parents to determine if they are carriers of CF-causing gene mutations, and as an aid in newborn screening and in confirmatory diagnostic testing in newborns and children. The test recently received 510(k) clearance from the U.S. Food and Drug Administration (FDA).
"The launch of our new xTAG Cystic Fibrosis 60 Kit v2 is a great achievement in cystic fibrosis testing," said Patrick J. Balthrop, president and chief executive officer of Luminex. "This cleared test has the most comprehensive genetic mutation coverage available today, featuring mutations found among Caucasians as well as those that are more commonly found in other ethnic populations. It will give doctors the ability to screen children and potential parents of many ethnicities for CF."

Cystic fibrosis is a common genetic disorder that causes the body to produce thick mucus that can clog the lungs and affect the digestive system. Approximately 30,000 Americans have cystic fibrosis. Although CF is most common in those of Caucasian descent, it can affect people of any race or ethnicity.
CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. To date, more than 1,500 of these mutations have been discovered(i). CF can only be passed onto a child when both parents carry a gene that causes the disease. According to the Cystic Fibrosis Foundation, more than 10 million Americans are symptomless carriers of CF-causing gene mutations.
Early diagnosis of CF is important and studies have demonstrated that early treatment and intervention can reduce a child's therapeutic needs, lower rates of medical complications, increase life expectancy and improve overall quality of life. Late diagnosis of cystic fibrosis can lead to health complications, chronic lung infections and compromised growth.
The xTAG Cystic Fibrosis 60 Kit v2 can detect up to 60 CFTR gene mutations from a single patient blood sample. These mutations include the 23 CFTR gene mutations and four variants (polymorphisms) recommended by the American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG), as well as 37 additional common North American mutations, including 20 mutations that are found within Hispanic and African-American populations.
The xTAG Cystic Fibrosis 60 Kit v2 is flexible. It gives physicians the ability to select the mutations for which they want to test, allowing them to choose to test a patient for the ACMG/ACOG-recommended gene mutations or the entire panel of 60 CFTR gene mutations.
The test also is easy to use and requires only about one hour of hands-on time to process 48 purified samples. Additionally, the xTAG Cystic Fibrosis 60 Kit v2 does not require reflex testing. All test results are revealed and available for analysis at each run.
The xTAG Cystic Fibrosis 60 Kit v2 is one of a suite of CF tests developed by Luminex. The xTAG Cystic Fibrosis 39 Kit v2, which can simultaneously screen a single blood sample for up to 39 cystic fibrosis-causing gene mutations, is available throughout the U.S., Europe and Canada. The test is also cleared by FDA and was launched as a CE marked IVD product under the European Directive on In Vitro Diagnostic Medical Devices in 2009. It received clearance from Health Canada in 2010.
The xTAG Cystic Fibrosis 71 Kit v2, which can simultaneously screen a single blood sample for up to 71 cystic fibrosis-causing gene mutations, is available in Europe and Canada. The test became a CE marked IVD product in 2009 and was cleared by Health Canada in 2010.
The xTAG Cystic Fibrosis 60 Kit v2 will be available throughout the United States through Luminex Molecular Diagnostics or Fisher HealthCare, part of Thermo Fisher Scientific, Inc. For more information, please visit http://www.luminexcorp.com/cf.

(i) Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca. Updated March 2, 2007.

Impact of cystic fibrosis on bone health

Curr Opin Pulm Med. 2010 Aug 25.

Impact of cystic fibrosis on bone health.

Haworth CS.
Adult Cystic Fibrosis Centre, Papworth Hospital, Cambridge, UK.


PURPOSE OF REVIEW: This review summarizes recently published data on the epidemiology, pathophysiology and treatment of cystic fibrosis (CF)-related low bone mineral density (BMD).

RECENT FINDINGS: A systematic literature review reports that the pooled prevalence of osteoporosis in adults with CF is 23.5% [95% confidence interval (CI) 16.6-31.0] and the pooled prevalences of radiologically confirmed vertebral and nonvertebral fractures are 14% (95% CI 7.8-21.7) and 19.7% (95% CI 6.0-38.8), respectively. Recent data suggest that the cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in bone cells and that CFTR dysfunction affects bone cell activity. The secondary effects of CFTR dysfunction also influence bone metabolism. For example, bone resorption increases during CF pulmonary exacerbations due to the stimulatory effects of proinflammatory cytokines on osteoclast activity. Bisphosphonates inhibit osteoclastic bone resorption and recent data show that both oral and intravenous bisphosphonates improve BMD in patients with CF.

SUMMARY: CF-related low BMD is a common but treatable complication of CF.

Saturday, August 21, 2010

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients

J Appl Genet. 2010;51(3):323-30.

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients.

Czerska K, Sobczynska-Tomaszewska A, Sands D, Nowakowska A, Bak D, Wertheim K, Poznanski J, Zielenski J, Norek A, Bal J.

Institute of Mother and Child, Department of Medical Genetics, Kasprzaka 17a, 01-211 Warsaw, Poland

Cystic fibrosis (CF) is one of the most common autosomal recessive diseases among Caucasians caused by a mutation in the CFTR gene. However, the clinical outcome of CF pulmonary disease varies remarkably even in patients with the same CFTR genotype. This has led to a search for genetic modifiers located outside the CFTR gene.

The aim of this study was to evaluate the effect of functional variants in prostaglandin-endoperoxide synthase genes (COX1 and COX2) on the severity of lung disease in CF patients. To the best of our knowledge, it is the first time when analysis of COX1 and COX2 as potential CF modifiers is provided. The study included 94 CF patients homozygous for F508del mutation of CFTR.

To compare their clinical condition, several parameters were recorded, e.g. a unique clinical score: disease severity status (DSS). To analyse the effect of non-CFTR genetic polymorphisms on the clinical course of CF patients, the whole coding region of COX1 and selected COX2 polymorphisms were analysed. Statistical analysis of genotype-phenotype associations revealed a relationship between the heterozygosity status of identified polymorphisms and better lung function.

These results mainly concern COX2 polymorphisms: -765G>C and 8473T>C. The COX1 and COX2 polymorphisms reducing COX protein levels had a positive effect on all analysed clinical parameters. This suggests an important role of these genes as protective modifiers of pulmonary disease in CF patients, due to inhibition of arachidonic acid conversion into prostaglandins, which probably reduces the inflammatory process.

Tuesday, August 17, 2010

vitamin D may treat or prevent allergy to common mold

Contact: Leslie Capolcapo@lsuhsc.edu504-568-4806Louisiana State University Health Sciences Center

Research concludes vitamin D may treat or prevent allergy to common mold

New Orleans, LA – Research conducted by Dr. Jay Kolls, Professor and Chair of Genetics at LSU Health Sciences Center New Orleans, and colleagues, has found that vitamin D may be an effective therapeutic agent to treat or prevent allergy to a common mold that can complicate asthma and frequently affects patients with Cystic Fibrosis. The work is scheduled to be published online August 16, 2010, ahead of the print edition of the September 2010 issue of the Journal of Clinical Investigation.

The environmental mold, Aspergillus fumigatus, is one of the most prevalent fungal organisms inhaled by people. In the vast majority, it is not associated with disease. However, in asthmatics and in patients with Cystic Fibrosis (CF), it can cause significant allergic symptoms. Up to 15% of CF patients develop a severe allergic response called Allergic Bronchopulmonary Aspergillosis (ABPA). Since the mold is so common, the researchers wanted to identify the factors that determine why only a subset of patients develop the allergy and what factors regulate tolerance or sensitization to the mold resulting in the development of ABPA. To gain insights, the group studied two groups of patients with CF. Both groups were colonized with A. Fumigatus, but only one had ABPA.

The researchers focused on Th2 cells–the hormonal messengers of T-helper cells that produce an allergic response. They found that a protein called OX40L was critical in driving Th2 responses to A. fumigatus in the CD4+T cells isolated from patients with ABPA and that this group had a much greater Th2 responses to A. Fumigatus. The CD4+T cells from the group of patients that did not have ABPA had higher levels of the proteins, FoxP3 and TGF-ß, critical to the development of allergen tolerance. The researchers discovered that heightened Th2 reactivity in the ABPA group correlated with a lower average blood level of vitamin D.
"We found that adding vitamin D not only substantially reduced the production of the protein driving an allergic response, but it also increased production of the proteins that promote tolerance," notes Dr. Jay Kolls, Professor and Chair of Genetics at LSU Health Sciences Center New Orleans.

According to the National Institutes of Health, Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in the United States have the disease. CF causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order to digest food. It is estimated that about 70,000 people worldwide have the disease.

Recent research has suggested that low levels of vitamin D may contribute to heart disease, a higher risk of diabetes, certain cancers, and depression as well as asthma, colds, and other respiratory disorders.

"Our study provides further evidence that vitamin D appears to be broadly associated with human health," notes Dr. Jay Kolls, Professor and Chair of Genetics at LSU Health Sciences Center New Orleans. "The next step in our research is to conduct a clinical trial to see if vitamin D can be used to treat or prevent this complication of asthma and Cystic Fibrosis."


Wednesday, August 11, 2010

Estrogen and CF women


Contraceptive pill offers hope for cystic fibrosis sufferers
By Grainne Cunningham

Tuesday August 10 2010

DOCTORS are to consider treating female cystic fibrosis (CF) sufferers with the contraceptive pill in order to radically improve their health.

Newly published groundbreaking research found a clear link between an increase in levels of the female hormone oestrogen and the body's ability to fight the disease.

The Pill would allow levels of the hormone to be better regulated, thus giving the body a better chance to fight the disease.

Female sufferers of CF typically have much poorer survival rates than males with the potentially deadly condition.

Yesterday, the mother of a seven-year-old girl with CF welcomed the news as "optimistic" and said it offered reassurance to the families of sufferers that new methods of treatment would be available in the future.

Researchers at the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital found a clear link between higher levels of oestrogen and the ability of the body to fight the disease.

Cystic fibrosis is an inherited disease that affects the lungs and the digestive system.

A build-up of mucus can make it difficult to clear bacteria and leads to cycles of lung infections, causing long-term damage and sometimes death.

The new study found that oestrogen hampers the creation of infection-fighting white blood cells in the lungs.

Ireland has the highest incidence of CF in the world, with almost four times the rate of other EU countries and the US.

During the menstrual cycle, higher levels of oestrogen increase women's risk of acquiring an infection and reduce the body's ability to fight bacteria, according to the study, which was published in the 'American Journal of Respiratory and Critical Care Medicine'.

The joint lead author, Dr Sanjay Chotirmall, said he hoped the findings would help narrow the gender gap in CF by "identifying new potential targets for treatment, such as stabilisation of oestrogen levels, or more aggressively employing preventative strategies against infection during the one week of the cycle when oestrogen levels are at their highest".


Dr Chotirmall, a specialist registrar in respiratory medicine, said the research was praised by the distinguished 'Faculty of 1000 Biology' guide for offering insight into the best way forward for treating CF.

The common Pill could prove to be a more valuable option than anti-inflammatory medicines, he suggested.

Deborah Kett, whose seven-year-old daughter Hannah has CF, said: "It's nice to get good news for a change."

She said the development would be particularly welcomed by families with girls in their teens, as they would have a new option to turn to immediately.

"When you hear something like this, it does give you hope, and that is particularly important for grandparents, siblings and others who may not be involved in the day-to-day care but are offering emotional support," Mrs Kett said.

Responding to the new research, the Cystic Fibrosis Association of Ireland welcomed the findings and commended the RCSI for its pioneering work.

"Cystic fibrosis continuous to be the most common life-threatening inherited disease in the country.

"Indeed, Ireland has the highest prevalence, and most severe types, of cystic fibrosis in the world, so we look forward to any possible future medical advances," she said.

Meanwhile, a new €1m outpatient unit for CF patients will open at Beaumont Hospital in the coming weeks.

The 580sq.m unit will consist of consultation and treatment rooms as well as a physiotherapy area and will be in addition to the six-bed in-patient centre already open at the hospital.

A spokesman for St Vincent's Hospital said discussions were still taking place with the contractor for the building of a 100-bed block which would include a CF unit comprising single-room beds.

- Grainne Cunningham