February 2010

Testing for alpha-1 antitrypsin deficiency: Measurement of AAT level is the first step   The diagnosis of A1AD relies on demonstration of low plasma concentration of AAT, followed by (when low) either observation of a deficient variant of the protein AAT by protease inhibitor (PI) typing, genotyping or detection of mutations in both copies of the gene SERPINA1, which encodes AAT. PI*Z is the most common deficiency allele. Ninety-five percent of A1AD results from the presence of two Z alleles.   Phenotyping or genotyping are usually done only when previously measured AAT is 1.5 g/L or less (or below the normal mean for the testing laboratory), OR the patient is a first-degree relative/spouse of a known AAT deficient subject. A request for PI typing when ordered separately should specify the previous result or the subject’s name and relationship for phenotyping to proceed. Alpha-1 Canada is a charitable not-for-profit organization, registered with the Canada Revenue Agency. We gladly accept your contributions by cheque or money order made payable to “Alpha-1 Canada” or by credit card securely through CanadaHelps.org. We issue tax receipts for donations over $10. Thank you.

Testing for Alpha-1 Antitrypsin Deficiency in Canada - Bad News, Good News

You may have heard that over the last number of months getting a phenotype test for Alpha-1 has become very difficult in Canada.

 

Phenotyping is only done after a person’s alpha-1 antitrypsin (AAT) level has been measured and found to be low. Testing of AAT levels continues to be easily available throughout Canada. (See: “Testing for alpha-1 antitrypsin deficiency: Measurement of AAT level is the first step” on the right side of this page).

 

The lab in Canada that performed the test was Dr. Diane Cox’s research lab at the University of Alberta (U of A). The U of A decided that they were in the research business, not the diagnosis business and told Dr. Cox to stop doing this test as well as one for another rare disease.

 

Almost every organization with an interest in Alpha-1 has been scrambling to get the U of A to change its mind or come up with an alternative.

 

Alpha-1 Canada continues to try to convince the University to start doing the tests again. The board and Medical Advisory Board have spent countless hours on this issue and written to the University but to no avail.

 

We are pleased to announce that, although the efforts to change minds at the U of A continue, Talecris Biotherapeutics  has come up with an alternative.

 

Talecris, the makers of Prolastin®, have developed and received government approval for an Alpha-1 test kit.

 

Once your doctor has determined that your AAT level is low (1.5 g/L or less, or below the normal mean for the testing laboratory) he or she can call the bilingual call-centre at 1-877-3 ALPHA1 (1-877-325-7421), to order a test kit. Once your doctor receives the kit, three dry blood drop samples are taken then mailed to a testing facility at the University of Florida. Within two to three weeks the doctor will receive the results through the mail.

 

It is important to understand that while your personal information and test results will only be divulged to your doctor, unlike test kits that were available a few years ago, these kits are not anonymous. Since the kits and results can only be sent to your doctor, he or she will place your results in your medical file (please see our web page on “Ethical Issues” to learn the implications of this fact. 

 

Talecris provides the specimen collection kit (including a postage paid mailer pre-addressed to the testing facility) and the testing services of the University of Florida Alpha1 Lab at no charge. We congratulate and thank them for their speedy solution to this problem.

 

This program is being managed and operated for Talecris by third parties; Talecris will not have access to anyone’s test results.

 

Early detection of Alpha-1 is critically important. Once you know you have Alpha-1 you can make important lifestyle changes and receive treatment from your doctor to slow the progression of the disease. The only way to detect Alpha-1 is through testing. We encourage you to take charge of your healthcare, take advantage of this speedy, easy process and contact your physician with this critical new information. Whether you have been diagnosed or are awaiting testing please keep your physician informed. Print this page and bring it with you to your next doctor’s appointment. And please, inform your close blood relatives that testing and diagnosis is now quick, easy and free.

 

Should you have any questions do not hesitate to contact Jim at 1-888-669-4583 or jim.mundy@alpha1canada.ca.

Alpha-1 Canada Treasurer takes on awareness too

 

Jerry Cunningham is a member of the board of directors and Treasurer of Alpha-1 Canada. Put simply, Jerry’s job as Treasurer is to make sure that there is no month left at the end of our money. If that were the only measure of Jerry’s success as our Treasurer, he’s doing a fine job!

But there is much more to being a Treasurer than that.

 

With the help of other board members who are also authorized to sign cheques, Jerry makes sure the bills get paid and all of our financial dealings are properly documented so that our auditors and the Canada Revenue Agency can be assured that Alpha-1 Canada is making good use of the donations we receive.Jerry also provides the rest of the board of directors with a monthly report of income and expenses.

 

One of the requirements of charity law in Canada is that charities must have their finances audited every year by an independent accounting firm. Thanks to an arrangement made by our previous Treasurer, Ed Speers, one of the biggest accounting firms in Canada, PricewaterhouseCoopers audits our finances every year pro bono (for free). This is a savings for us of nearly $4,000.

 

During the audit process, which generally happens in the late fall, Jerry and others are busy providing the auditors with all the documentation they need from cheque stubs to phone bills to printing receipts. The auditors have always given Alpha-1 Canada a clean bill of financial health and this year was no different.

 

Jerry is not an Alpha, but members of his family are, and Jerry is a Certified Management Accountant (CMA) who works full time as an accountant for a company in Sudbury, Ontario. For those who don’t know where Sudbury is, it is between Toronto and the North Pole.

 

If you think Jerry is busy enough with his job and all the volunteer hours he devotes to Alpha-1 Canada’s financial affairs, you would be wrong. Like many of our devoted volunteers, Jerry just can’t get enough of helping Alphas.

 

On November 24th 2009, Jerry took a vacation day from work and set up a display on Alpha-1 at a forum held in Sudbury by the Sudbury Lung Disease Support Group. There were six other exhibitors and Jerry says, “I got to speak to a number of people at the booth and they seemed happy to have the brochure to take to their doctor's office.”

 

And again in January on the 28th, Jerry took another vacation day and set up his display at the 2010 Seniors Information Fair at the Park Side Centre.

 

“There were about 60 exhibitors and about 200 attendees. It was an open-house type event that ran from 9:00 am to 2:30 pm and people just wandered from exhibit to exhibit throughout the day. I had two or three people ask me if we had someone who could talk to groups of people locally about Alpha1.”

 

Thanks Jerry! The more people who learn about Alpha-1, the more patients we can find and help.

 

If there are events in your area like the ones Jerry attended and you would like to set-up a display or just make brochures available, contact Jim at jim.mundy@alpha1canada.ca or 1-888-669-4583.

 

Rare Disease Day 2010

 

Why is there an International  Rare Diseases Day?

 

• Because we constantly need to raise awareness of rare diseases among decisions makers, health professionals and the general public. Information is key to improving living conditions for rare disease patients; raising awareness is therefore one of our primary goals
• Because acting simultaneously in many places and in many countries can ensure the voice of rare disease patients is heard by more people
• Because a day focussed on rare diseases can bring hope and information to people living with rare diseases, their caregivers and their families
• Because we want equity in access to care and treatment for rare disease patients not only in Canada, but throughout the world
• Because we need an action that can bring all stakeholders of the rare disease community together with the same goal
• Because we need more funds for research and care, and more research and efforts directed towards rare diseases
• Because we need to keep fighting for rare disease patients
• Because we need to coordinate policy actions at the national level and at the international level

Rare Disease Day 2010 marks the beginning of a year that will lead to a decade of unprecedented opportunities for rare diseases and disorders in Canada. We have much to celebrate. Most provinces now provide enhanced newborn screening for rare genetic disorders. Many patients with previously untreated rare conditions now have access to life-saving and life-enhancing therapies, including innovative medicines.

 

The first CIHR-funded grant competition for research on rare diseases will be announced this year. And with the support of the federal government, we anticipate regulations and legislation to support rare disorders.

 

But we still have a long way to go. Progress and opportunities have come about only through dedicated efforts of many individuals, including those affected by rare disorders, those treating and supporting rare disorders, those doing research and drug development, and those who craft the policies and legislation.

 

GET INVOLVED in a big way or a small way! Contact Jim at 1-888-669-4583 or jim.mundy@alpha1canada.ca to learn more about how you can contribute to spreading awareness.

 

 

Talecris Biotherapeutics Receives Orphan Drug Designation for Aerosolized Alpha1-Proteinase Inhibitor to Treat Alpha1-Antitrypsin Deficiency

 

Talecris Biotherapeutics announced on February 5th that it was granted orphan drug designation by the U.S. Food and Drug Administration (FDA) for the development of an aerosol formulation of Alpha1-Proteinase Inhibitor to treat alpha1-antitrypsin (AAT) deficiency.

 

Orphan drug designation is granted to companies in many countries, not Canada, to encourage the development of treatments that prevent, diagnose or treat rare, life-threatening or chronic illnesses. The designation provides incentives such as tax credits and potentially seven years of market exclusivity to companies willing to support the costly research and development programs associated with developing specialized drugs for a small population of individuals.

 

Orphan drug designation helps to give patients suffering from rare diseases access to the same quality of treatment as other patients. Talecris received a similar orphan drug designation for the aerosolized form of AAT from the European Commission in June of 2008.

 

Talecris is the manufacturer of PROLASTIN® an intravenous therapy that is indicated for chronic augmentation therapy among individuals who have AAT deficiency.

"Talecris is committed to helping patients with rare diseases for whom few treatment options exist," said Lawrence D. Stern, chairman and CEO of Talecris. "This orphan drug designation will allow us to move forward with developing an alternative method of delivering augmentation therapy for patients who prefer an inhaled mode of administration."

 

An important part of Talecris' aerosol development program is the exclusive partnership between Talecris and Activaero Technologies (www.activaero.de/en.php), an industry leader in controlled breathing technologies for inhaled therapeutic agents. Activaero's AKITA(2(R)) APIXNEB inhalation system has demonstrated consistently high drug deposition to the central and peripheral regions of the lungs in patients with AAT deficiency, regardless of disease severity.

 

Gene Therapy Holds Promise for Emphysema

 

A single treatment with a new method of gene therapy may offer lifetime protection against the progression of emphysema, according to the results of a study in mice.

 

The most common form of emphysema in young people is alpha-1 antitrypsin deficiency.

 

In experiments on mice, researchers at the Boston University School of Medicine developed a system that can deliver genes selectively to as many as 70 percent of the lung's alveolar macrophages, which play an important role in emphysema.

 

Using this new approach, the researchers achieved sustained expression of normal human alpha-1 antitrypsin (AAT) protein at levels that improved emphysema in mice.

 

"The lung macrophages carrying the therapeutic gene survived in the lungs' air sacs for the two-year lifetime of the treated mice following a single intra-tracheal injection of the lentiviral vector we had engineered," study senior author Dr. Darrell Kotton said in a news release. Dr Kotton is an associate professor of medicine and pathology and co-director of the Center for Regenerative Medicine at Boston University School of Medicine.

 

"Our results challenge the dogma that lung macrophages are short-lived and suggest these differentiated cells as a target cell that may be considered for in vivo gene therapy applications, including the sustained correction of AAT deficiency," lead author Dr. Andrew Wilson, an assistant professor of medicine, also said in the news release.

 

The study was published online Dec. 21 in the Journal of Clinical Investigation.

 

Our website is continuously updated with useful information for Alphas and their caregivers as well as news on promising research. Make a habit of checking our website regularly so you won’t miss out on exciting updates and always read our monthly newsletter from top to bottom.

 

Help us spread awareness by forwarding our newsletters to your family and friends.

 

Alpha-1 Canada - Making a difference in the lives of Alphas

 

 

This newsletter is designed to support, not replace, the relationship that exists between you and your physician. It is not the intention of this newsletter to provide specific medical advice but rather to provide the Canadian Alpha-1 Community with information to better understand their health and their diagnosed disorder. Specific medical advice will not be provided and Alpha-1 Canada urges you to consult with a qualified physician for diagnosis and for answers to your personal questions.