Tag: cystic fibrosis

Big news for DF508 carriers

two-pills-500-466x298On May 12, 2015, the Pulmonary-Allergy Drugs Advisory Committee of the U.S. Food and Drug Administration (FDA) will hold a hearing to discuss Vertex Pharmaceuticals’ new drug application for approval of the lumacaftor/ivacaftor combination therapy for the treatment of cystic fibrosis in patients age 12 years and older who are homozygous for the F508del mutation.

The results of a phase 3 clinical trial with lumacaftor and ivacaftor showed statistically significant improvements in lung function and other markers. Sue Landgraf, CFRI’s executive director, will address the committee during oral presentations from the public, advocating for FDA approval of the combination therapy.

To read the FDA’s announcement of the hearing, click here.


What were the results of the ivacaftor and lumacaftor Phase 3 clinical trials?

Participants in the Phase 3 trials who received the combination treatment showed significant improvements in lung function and other important health measures, compared with those on placebo, and these gains were sustained throughout the 24-week trials.

Both trials tested the same two doses of lumacaftor in combination with ivacaftor. All groups of participants receiving the treatment achieved the trials’ primary endpoint goal of a mean absolute improvement in lung function (measured by FEV1), with a range of 2.6  4 percentage point improvement across the groups.

Those taking the combination treatment also had significant improvements in multiple secondary endpoints, including a mean relative improvement in FEV1 between 4.3 and 6.7 percent; improved weight gain; and significant reductions in the rate of pulmonary exacerbations and associated hospitalizations and IV antibiotic use.

How were the Phase 3 clinical trials conducted?

The two six-month Phase 3 clinical trials studied the combination treatment in people with two copies of the F508del mutation ages 12 and older. In total, more than 1,100 study volunteers participated at nearly 200 clinical trial sites in North America, Europe and Australia.

Both trials tested the same two doses of lumacaftor in combination with ivacaftor. Participants were monitored and given laboratory tests and surveys to measure lung function, body weight and body mass index, hospitalization rates and overall health and quality of life.

The trials were “double-blinded:” neither the participants nor the trial researchers knew which groups received the drug combination and which group received placebo.

Most Phase 3 trials are about one year long. However, the combination trials were completed in about half the time typically required for a Phase 3 trial, following the FDA’s awarding the potential combination treatment “Breakthrough Therapy Designation,” intended to speed the development of select potential therapies that treat life-threatening diseases or conditions.

Will the combination treatment be available to people with CF who are younger than 12 years of age?

The drug combination must be tested in people under age 12 to determine its safety and efficacy in this patient group. Vertex plans to conduct a clinical trial of the combination treatment in people with CF with two copies of the F508del mutation ages 6 to 11 in the first half of 2015.

Why weren’t the results from the Phase 3 combination trials as good as the results from studies of ivacaftor alone in people with G551D?

The potential combination treatment targets a more complex problem in CF than Ivacaftor targets.

Ivacaftor has been approved for people ages 6 and older with the G551D mutation and several closely related mutations. In people with these mutations, the CFTR protein is at its proper place at the cell surface but does not function normally. Instead, it acts like a locked gate. Only one drug is needed to help increase CFTR activity and unlock that gate, allowing the normal flow of salt and fluids that helps thin the thick mucus that builds up in the lungs of people with CF.

In people with the most common CF mutation, F508del, a series of problems prevents the CFTR protein from taking its correct shape and reaching its proper place on the cell surface. Addressing these problems requires a multi-pronged approach that takes place in different parts of the cell. Lumacaftor is designed to help move the defective CFTR protein to the cell surface, while ivacaftor improves its function once it is there.

Is this drug combination a cure for CF?

The combination treatment is not a cure for CF. However, based on the results from the Phase 3 trials in people with two copies of the F508del mutation ages 12 and older, the two drugs in combination have been shown to significantly improve lung function and other important measures of the disease.

The Phase 3 results further validate findings from other late-stage studies that have demonstrated it is possible for an oral drug to improve key symptoms of CF by addressing the defective CFTR protein caused by mutations in the CF gene.

What is the current status of Vertex’s FDA approval application as it stands now?

On Nov. 5, 2014, Vertex Pharmaceuticals Inc. submitted a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) for approval of the combination of ivacaftor (Kalydeco™) and the potential therapy lumacaftor (VX-809). The potential combination drug is designed for people with cystic fibrosis ages 12 and older who have two copies of the most common mutation of cystic fibrosis, F508del.

Results from Phase 3 trials of the combination drug showed that people with two copies of the F508del mutation ages 12 and older who received the treatment had significant improvements in lung function and other key measures of the disease.

Both ivacaftor and lumacaftor are designed to treat the underlying cause of CF — a defective protein, called CFTR, caused by mutations in the CF gene.

Vertex has requested a priority review of the combination drug, which, if granted, could shorten the FDA review timeframe from approximately 12 months to 8 months.

Mushrooms cooked in butter, rosemary & lemon

IMG_3911  This is a great one if you can get your child to eat mushrooms. They’re jam packed full of goodness.

In the absence of sunlight or supplements, eating mushrooms is a good way to up your vitamin D levels, and the only vegetarian food source of vitamin D. They are also a good source of B vitamins, which help provide energy by breaking down proteins, fats and carbohydrates, and play a key role in the nervous system.

Simply cook in LOADS of butter and sprinkle a little rosemary on top, saute until soft and delicious.

A good squeeze of lemon is not only a nice flavour addition, it also breaks through the fatty taste which can sometimes be too much on a little palette.

(One thing we’ve noticed is that when we put too much butter or oil in a dish, kids get almost a ‘fatty taste fatigue’ from the taste of fat so we often try to break up the taste with something fresh).

An update on Kalydeco

Vertex pharmaceuticals, the company who pioneered the revolutionary Kalydeco drug treatment currently available for people with the GFF1D mutation – around 4% of the population, will be presenting further updates on how the drug works for people who are homozygous for the F508del mutation (the more standard mutation) at this year’s North American Cystic Fibrosis conference currently being held in Atlanta.

Vertex Pharmaceuticals will be presenting 15 abstracts at the 28th Annual North American Cystic Fibrosis Conference (NACFC) held in Atlanta from October 9-11. Each abstract is from Vertex’s cystic fibrosis research and development program. Data will primarily be related to TRAFFIC and TRANSPORT clinical trials, which were phase 3 rollover studies evaluating lumacaftor and ivacaftor combination therapy.

According to a news release from Vertex, presented data will include the first interim data from patients who completed TRAFFIC and TRANSPORT, which were highlighted previously on Cystic Fibrosis News Today. These studies were for individuals homozygous for the F508del mutation. Data from this subtype of cystic fibrosis patients, who were on combination lumacaftor and ivacaftor therapy for 24 weeks, were previously presented and will be revisited at NACFC. Data concerning combination therapy will be related to drug distribution in the body, safety in children on the treatment, and the effects of using bronchodilators while on concomitant combination therapy.

Presented studies will also focus on children receiving ivacaftor treatment. These studies evaluated individuals with R117H residual functional mutations who benefit from the potenitation mechanism of ivacaftor. Topics include the effects of ivacaftor on forced expiratory volume in one second (FEV1), the distribution of ivacaftor throughout the body following administration, and the effects of ivacaftor on patient weight.

What is Allergic Rhinitis?

177257469What is it?

Allergic Rhinitis / Hayfever

It’s an allergy that mainly affects the nose.


What are the Symptoms?

Frequent sneezing, constantly blocked or runny nose, itchy nose and/or eyes.

Also snoring, mouth breathing, headaches and night-time cough.


What causes it?

Exposure to dust mite, pollen, mould, animal fur and cigarette smoke. Hay fever caused by pollen is generally worse in spring and early summer. The other triggers cause symptoms all year round.


Why is it important?

If left untreated rhinitis can cause obstructive sleep apnoea, poor sleep, daytime tiredness, worsening of asthma and increased risk of sinus infection.


Tips for reducing pollen exposure

  • Stay indoors until after midday (if possible). This will reduce your exposure. Try to avoid going out on windy days or after thunderstorms.
  • Wear sun glasses to protect your eyes.
  • Do not mow the grass, and stay inside when it is being mown. If mowing is unavoidable, wear a mask. .
  • Keep windows closed both at home and particularly when in your car (and where possible use recirculating air conditioning in your car).
  • Do not picnic in parks or in the country during the pollen season.
  • Try to plan your holidays out of the pollen season or holiday at the beach.
  • Check the pollen forecast at http://www.weatherzone.com.au/pollen-index


Effective treatments

  • Trigger avoidance
  • Non-sedating antihistamines ( e.g. Claratyne and Zyrtec)
  • Steroid nasal sprays ( e.g. Avamys, Nasonex)
  • Nasal irrigation




Dr John Widger

Spring / Summer Sports ideas

yewAustralia is famous for its participation in winter sports. Now that they’re sadly coming to an end, it’s time to put the thinking caps on about how to keep activity levels up over the warmer months. Spring/Summer sports don’t come to mind as readily as winter sports, but there are actually a lot of options. Registration for organised sports is usually in September, so don’t delay. Here’s a few options to start you thinking:








Rock Climbing

Little Athletics










Just remember, it’s not all about paid, organised sports and activities. We are fortunate to live in a country with beautiful weather conducive to being outdoors for long periods in the mornings and evenings during day light saving. One of the best things you can do to help manage your child’s CF is to put them in environments that encourage them to be active, so get out there and get active!

Here are a couple of links which may give you some ideas for kid’s sporting activities

Kidspot Sports Activity Listing

Sydney Olympic Park Sporting Activities

Active Activities

Ella’s List Kids Sporting Activities

Healthy Kids – NSW Sporting Activities

And don’t forget for those of you who live near a beach, salt water activities are terrific for the health of your child. Think surfing, swimming, body boarding and snorkelling. All great activities to start thinking about now. And we’re lucky in Sydney that our weather gets warmer earlier than in other states so now might be the time to start thinking about dusting off that body board, strapping on a warmer wetsuit and getting out into the ocean. There’s a few surf companies who run surf camps in the holidays and lessons after school that might  help your child catch the surfing bug.

Let’s Go Surfing – Eastern Suburbs

Manly Surf School – Northern Beaches from Manly to Palm Beach

Cronulla Surf School – The Sutherland Shire

And for those of you who haven’t read about the benefits of surfing for CFers, check out these articles:

The Surfing Solution

Look to the Sea for CF Treatment

Surfers Inspire New Treatment

How Surfing Helps Those with CF – A US Story

Michael Doumit – CF Physiotherapist