Question for any clinical trial participants

[Guest guest]

Hey there,

Our trial of Pirfenidone for the PF of Hermansky-Pudlak Syndrome is coming to an end. (Long story, I'll tell you if you really want to know....not not relevant to my question.)

I get to decide if I want to know if I was on active drug or placebo. I think I've made up my mind on the issue, but I was wondering how anyone else that's been in a trial felt about this decision, what weighed into what you decided etc.

I think I'm going to find out for several reasons. First, I just have too active a sense of curiousity to let sleeping dogs lay. Second, in our study, those that were on active drug will be asked to volunteer for further bronchs for research purposes. You can't volunteer unless you know, and I'd just about anything to further research, so I think I"ll find out so that if I was on the drug, I can volunteer and that extra little bit of data can be collected.

Just curious to hear other stories on the subject.

Hermansky-Pudlak Syndrome albinism 02 / PF 06

www.heatherkirkwood.blogspot.com

[Guest guest]

The volunteering for the continuing monitoring for those on the drug is

quite valuable, but, unfortunately not for necessarily good reasons. The

small benefit Pirfenidone has typically shown in the first 36 weeks has

seemed to be reversed in the next 36.

I can't imagine not wanting to know which I was on at this point. You've

been through the trial and anything else that involved and who wouldn't

be curious.

Whether to stay on it would be based on three factors in my mind. First,

it will provide additional information. Second, if on it how are you

doing? Third, if on it, have you experienced any side effects from it?

While I have no personal desire to try Pirfenidone, if I was already on

it, doing well on it, and not experiencing side effects, I'd find

staying on it a while longer very tempting.

>

>

> Hey there,

>

> Our trial of Pirfenidone for the PF of Hermansky-Pudlak Syndrome is

> coming to an end. (Long story, I'll tell you if you really want to

> know....not not relevant to my question.)

>

> I get to decide if I want to know if I was on active drug or placebo.

I

> think I've made up my mind on the issue, but I was wondering how

anyone

> else that's been in a trial felt about this decision, what weighed

into

> what you decided etc.

>

> I think I'm going to find out for several reasons. First, I just have

> too active a sense of curiousity to let sleeping dogs lay. Second, in

> our study, those that were on active drug will be asked to volunteer

for

> further bronchs for research purposes. You can't volunteer unless you

> know, and I'd just about anything to further research, so I think I " ll

> find out so that if I was on the drug, I can volunteer and that extra

> little bit of data can be collected.

>

> Just curious to hear other stories on the subject.

>

>

>

>

>

>

>

> Hermansky-Pudlak Syndrome albinism 02 / PF 06

>

> www.heatherkirkwood.blogspot.com

> <http://www.heatherkirkwood.blogspot.com>

>

[Guest guest]

Unfortunately, staying on the drug is not an option for us - although if it was I'd stay on it. Because we know that everyone with the HPS mutation I have develops pulmonary fibrosis, we get diagnosed with PF (if we're accurately diagnosed with HPS, which isn't easy) earlier than the average PF patient. I figured out I had HPS in 2002, and after that had regular PFTs and CT scans to monitor, so as soon as I started to trend downward and they saw fibroisis on my CT, they were on it.

Our phase III study was intended to look at Pirfenidone in a healthier population as our initial phase II trial found that it had the greatest beneficial effect on patients with mild disease.

Our entry point for the study was an FVC of 85 (and a whole lot of other stuff.) I went in with an FVC of about 80 and a DLCO of 53. While in the study, I went up to an FVC of 112! But, then I dropped in the last six months back down to where I was when I went in. I had a bad infection in my lung and things never bounced back after it.

Our doctors had assumed that the average rate of progression for people with HPS PF was about 10 percent a year. Now that they've followed more patients, they've found that naturally we tend to decline slower between say an FVC of 85 to 70, and after 70 the progression seems to pick up and become more uniform.

The end result was that the measurements of our trial to prove success were flawed.

It's anacdotal, but we have three HPS'ers who were in our first trial, have been on active drug since 1998, and are all stable and remain pretty much so.

With something so rare, it's hard to tell if that's a fluke or what. As disease pathways can be so different for different causes of PF, who knows if it has a better impact on those who get diagnosed extremely early. Or if it has a different impact on our particular disease pathway - or maybe we do well because we tend to be younger when our disease first shows up. Who knows - much more needs to be learned.

So, since there is no promise of getting to continue the drug, that's not a factor for me. Our trial reached no conclusion - it didn't prove it had benefit or didn't have benefit.

I have had a lot of acid reflux since being in the study, and a lot of digestive problems, but those can also be symptoms of HPS so who knows.

I used to think that if I found out I was on placebo I'd feel kinda silly as I've done well, yet had all these little GI issues. I'd feel like it was all in my head, sort of speak. Now, I almost hope I was on placebo and that I've done so much better than any of my doctors here or at the NIH ever predicted because my body did it on it's own - especially since we won't continue to get the drug.

Hermansky-Pudlak Syndrome albinism 02 / PF 06

www.heatherkirkwood.blogspot.com

> >> >> > Hey there,> >> > Our trial of Pirfenidone for the PF of Hermansky-Pudlak Syndrome is> > coming to an end. (Long story, I'll tell you if you really want to> > know....not not relevant to my question.)> >> > I get to decide if I want to know if I was on active drug or placebo.> I> > think I've made up my mind on the issue, but I was wondering how> anyone> > else that's been in a trial felt about this decision, what weighed> into> > what you decided etc.> >> > I think I'm going to find out for several reasons. First, I just have> > too active a sense of curiousity to let sleeping dogs lay. Second, in> > our study, those that were on active drug will be asked to volunteer> for> > further bronchs for research purposes. You can't volunteer unless you> > know, and I'd just about anything to further research, so I think I"ll> > find out so that if I was on the drug, I can volunteer and that extra> > little bit of data can be collected.> >> > Just curious to hear other stories on the subject.> >> >> >> > > >> >> >> > Hermansky-Pudlak Syndrome albinism 02 / PF 06> >> > www.heatherkirkwood.blogspot.com> > <http://www.heatherkirkwood.blogspot.com>> >>

[Guest guest]

: Pardon me for being lazy. What are the symptoms of HPS?I am from a family that has a history of PF.. Both

my Mother and father died from some type of PF.

In 7-2008 my younger brother died with IPF. Prior to my wife's passing in 9-2007, I felt I had wonderful heart and lungs. I exercised daily--walking, gardening and swimming. I actully quit much exercise to care for my wife as she wased Dxed with cancer in 5-2006. I visited my brother in FL three times before and after his lung transplant. At that time I felt it was impossible for me to have a lung disease. Some of my younger siblings may be on a tract leading to PF. Apparently this is our families disease. I did not know of a gene mutation related to PF.

Burns

Burns

To: Breathe-Support Sent: Friday, September 18, 2009 1:12:12 AMSubject: Re: Question for any clinical trial participants

Unfortunately, staying on the drug is not an option for us - although if it was I'd stay on it. Because we know that everyone with the HPS mutation I have develops pulmonary fibrosis, we get diagnosed with PF (if we're accurately diagnosed with HPS, which isn't easy) earlier than the average PF patient. I figured out I had HPS in 2002, and after that had regular PFTs and CT scans to monitor, so as soon as I started to trend downward and they saw fibroisis on my CT, they were on it.

Our phase III study was intended to look at Pirfenidone in a healthier population as our initial phase II trial found that it had the greatest beneficial effect on patients with mild disease.

Our entry point for the study was an FVC of 85 (and a whole lot of other stuff.) I went in with an FVC of about 80 and a DLCO of 53. While in the study, I went up to an FVC of 112! But, then I dropped in the last six months back down to where I was when I went in. I had a bad infection in my lung and things never bounced back after it.

Our doctors had assumed that the average rate of progression for people with HPS PF was about 10 percent a year. Now that they've followed more patients, they've found that naturally we tend to decline slower between say an FVC of 85 to 70, and after 70 the progression seems to pick up and become more uniform.

The end result was that the measurements of our trial to prove success were flawed.

It's anacdotal, but we have three HPS'ers who were in our first trial, have been on active drug since 1998, and are all stable and remain pretty much so.

With something so rare, it's hard to tell if that's a fluke or what. As disease pathways can be so different for different causes of PF, who knows if it has a better impact on those who get diagnosed extremely early. Or if it has a different impact on our particular disease pathway - or maybe we do well because we tend to be younger when our disease first shows up. Who knows - much more needs to be learned.

So, since there is no promise of getting to continue the drug, that's not a factor for me. Our trial reached no conclusion - it didn't prove it had benefit or didn't have benefit.

I have had a lot of acid reflux since being in the study, and a lot of digestive problems, but those can also be symptoms of HPS so who knows.

I used to think that if I found out I was on placebo I'd feel kinda silly as I've done well, yet had all these little GI issues. I'd feel like it was all in my head, sort of speak. Now, I almost hope I was on placebo and that I've done so much better than any of my doctors here or at the NIH ever predicted because my body did it on it's own - especially since we won't continue to get the drug.

Hermansky-Pudlak Syndrome albinism 02 / PF 06

www.heatherkirkwood .blogspot. com

> >> >> > Hey there,> >> > Our trial of Pirfenidone for the PF of Hermansky-Pudlak Syndrome is> > coming to an end. (Long story, I'll tell you if you really want to> > know....not not relevant to my question.)> >> > I get to decide if I want to know if I was on active drug or placebo.> I> > think I've made up my mind on the issue, but I was wondering how> anyone> > else that's been in a trial felt about this decision, what weighed> into> > what you decided etc.> >> > I think I'm going to find out for several reasons. First, I just have> > too active a sense of curiousity to let sleeping dogs lay. Second,

in> > our study, those that were on active drug will be asked to volunteer> for> > further bronchs for research purposes. You can't volunteer unless you> > know, and I'd just about anything to further research, so I think I"ll> > find out so that if I was on the drug, I can volunteer and that extra> > little bit of data can be collected.> >> > Just curious to hear other stories on the subject.> >> >> >> > > >> >> >> > Hermansky-Pudlak Syndrome albinism 02 / PF 06> >> > www.heatherkirkwood .blogspot. com> > <http://www.heatherk irkwood.blogspot .com>> >>

[Guest guest]

Hi ,My brother

died from IPF 2005 at age 43. My mother was diagnosed with emphysema in 1981

and died from a stroke in 1982 at age 56. The real possibility is that she had

undiagnosed IPF, not emphysema. And here I am at age 53 with a diagnosis of IPF

in May 2009. I am already at a mod-severe stage, my pulmonary my doctor is

quite certain I had IPF back in Aug 2006 when I went to the doctors for

symptoms they diagnosed as pneumonia by chest x-ray.. I have one sister and she

decided to get a cat-scan to hopefully rule out the she may have IPF too; but

unfortunately the CT showed interstitial and septal thickening in her lungs.

She has been referred to a pulmonary specialist and is awaiting that

appointment, she is only 51.

I am also

being evaluated and treated at the University of Washington Medical Center in Seattle, WA. Both docs changed my diagnosis to

Familial Pulmonary Fibrosis and asked if my sister and I would participate in

PF genetic research at the UT Southwestern Medical Center. They will also draw

DNA from my brother’s lung biopsy done in 2005 at the UWMC.

Researchers

identify gene linked to inherited form of fatal lung disease

DALLAS — Dec. 19, 2008 — Researchers at UT Southwestern

Medical Center have determined that a mutation in a gene known for its role

in defending the lungs against invading pathogens is responsible for some

inherited cases of a lethal lung disease affecting older adults. The same

mutation may also be associated with lung cancer, the researchers said.

This is the third gene that UT Southwestern scientists have linked with

idiopathic pulmonary fibrosis, or IPF. The study appears online this week

and in the January issue of American Journal of Human Genetics.

In the U.S., about 200,000

patients have IPF, and about 40,000 patients die from the disease each

year, according to the Pulmonary Fibrosis Foundation. The disease typically

strikes people in their 50s and older, causing severe scarring of the

lungs. Death usually occurs within three years of diagnosis.

Dr.

(center) led researchers, including Dr. Philip Kuan

(left) and Dr. Yongyu Wang, in discovering that a mutation in a gene

known for its role in defending the lungs against invading pathogens is

responsible for some inherited cases of a lethal lung disease affecting

older adults.

“We

don’t have any medicines to treat this disease,†said Dr. , assistant professor

in the Eugene McDermott Center for Human Growth

and Development and of internal medicine at UT Southwestern and the study’s

senior author. “If a patient is younger than 65, lung transplantation is an

option, but most people who develop IPF are older than that.â€

The ultimate goal, Dr. said, is to find or develop a medication that

can stem the progression of this pulmonary condition.

About one in 50 IPF patients have an inherited form of the disease. It is

this familial form of the disease that Dr. her colleagues are

focused on.

“We’ve been trying to identify the genes and genetic variants that underlie

this disease,†Dr. said. “Now, we know there are multiple genes

involved.â€

In 2007, Dr. and her research team studied two large families in which

multiple individuals were affected with IPF to search for a gene causing

the disease. This led to the discovery of mutations in genes called TERT

and TERC. These two genes are normally responsible for producing the

telomerase enzyme, which elongates the lengths of DNA at the ends of

chromosomes, called telomeres. In normal cells, telomeres shorten each time

the cell divides. When they reach a certain length, the cell stops

dividing. In most cancerous cells, telomeres don’t shorten during cell

division, allowing the cells to remain effectively immortal. Mutations in

either of these two genes can be found in almost 15 percent of those with

familial IPF. Up to 40 percent have short telomere lengths and evidence of

telomerase dysfunction..

“But we were still left with a big question mark,†Dr. said.

“What about the rest of the families that have normal telomere lengths?

What was causing their lung disease?â€

In the current study, Dr. and her team focused on families that did

not have TERC or TERT mutations. By using a genomic linkage

approach — a technique that scans the entire human genome for regions of

DNA that are shared in common by all the individuals with the disease —

they were led to mutations in a gene called SFTPA2. The protein

produced by this gene, surfactant protein A2, is found in the fluid of the

lungs and helps protect the organ from invading pathogens..

Many of the individuals in this family who carried this mutation had not

only IPF but also lung cancer, especially adenocarcinoma, with features of

bronchioloalveolar cell carcinoma. It is known that people with IPF have a

higher risk for developing lung cancer, and Dr. suspects that

mutations in the SFTPA2 gene are associated with both IPF and lung

cancer. Another family harboring a different mutation in the SFTPA2

gene also had members that exhibited IPF and lung cancer.

Dr. and her team are now working on molecular studies in cells to

determine why these gene mutations put patients at risk for either of these

diseases. They are also working to develop an animal model in order to

determine the specific effects of SFTPA2 on different cells in the

lungs.

Other UT Southwestern researchers involved in the study were lead author

Dr. Yongyu Wang, a post doctoral researcher in the McDermott Center; Dr.

Philip Kuan, an internal medicine resident; Dr. Chao Xing, assistant professor of clinical

sciences; Cronkhite, senior research associate in the McDermott

Center; Dr. , assistant professor of

internal medicine; Dr. Randall Rosenblatt, professor of

internal medicine; Dr. DiMaio, associate professor of

cardiovascular and thoracic surgery; Dr. Kinch, a

bioinformatics research scientist in biochemistry with the

Medical Institute at UT Southwestern; and Dr. Nick Grishin, associate professor of

biochemistry and an HHMI investigator.

The research was funded by the National Institutes of Health and the Doris

Duke Charitable Foundation.

Visit http://www.utsouthwestern.org/heartlungvascular

to learn more about heart, lung and vascular clinical services at UT

Southwestern.

.@...Christine Kim , MD, PhD

McDermott Center of Human Genetics

Department of Internal Medicine

Pulmonary and Critical Care Medicine

UT Southwestern Medical Center

5323 Harry Hines Blvd.

Dallas, TX 75390-8591

christine.garcia@...

C_53_Familial IPF_5/09WashingtonTo: Breathe-Support Sent: Friday, September 18, 2009 7:45:56 PMSubject: Re: Re: Question for any clinical trial participants

: Pardon me for being lazy. What are the symptoms of HPS?I am from a family that has a history of PF.. Both

my Mother and father died from some type of PF.

In 7-2008 my younger brother died with IPF. Prior to my wife's passing in 9-2007, I felt I had wonderful heart and lungs. I exercised daily--walking, gardening and swimming. I actully quit much exercise to care for my wife as she wased Dxed with cancer in 5-2006. I visited my brother in FL three times before and after his lung transplant. At that time I felt it was impossible for me to have a lung disease. Some of my younger siblings may be on a tract leading to PF. Apparently this is our families disease. I did not know of a gene mutation related to PF.

Burns

Burns

From: <hkdawn (AT) yahoo (DOT) com>To: Breathe-Support@ yahoogroups. comSent: Friday, September 18, 2009 1:12:12 AMSubject: Re: Question for any clinical trial participants

Unfortunately, staying on the drug is not an option for us - although if it was I'd stay on it. Because we know that everyone with the HPS mutation I have develops pulmonary fibrosis, we get diagnosed with PF (if we're accurately diagnosed with HPS, which isn't easy) earlier than the average PF patient. I figured out I had HPS in 2002, and after that had regular PFTs and CT scans to monitor, so as soon as I started to trend downward and they saw fibroisis on my CT, they were on it.

Our phase III study was intended to look at Pirfenidone in a healthier population as our initial phase II trial found that it had the greatest beneficial effect on patients with mild disease.

Our entry point for the study was an FVC of 85 (and a whole lot of other stuff.) I went in with an FVC of about 80 and a DLCO of 53. While in the study, I went up to an FVC of 112! But, then I dropped in the last six months back down to where I was when I went in. I had a bad infection in my lung and things never bounced back after it.

Our doctors had assumed that the average rate of progression for people with HPS PF was about 10 percent a year. Now that they've followed more patients, they've found that naturally we tend to decline slower between say an FVC of 85 to 70, and after 70 the progression seems to pick up and become more uniform.

The end result was that the measurements of our trial to prove success were flawed.

It's anacdotal, but we have three HPS'ers who were in our first trial, have been on active drug since 1998, and are all stable and remain pretty much so.

With something so rare, it's hard to tell if that's a fluke or what. As disease pathways can be so different for different causes of PF, who knows if it has a better impact on those who get diagnosed extremely early. Or if it has a different impact on our particular disease pathway - or maybe we do well because we tend to be younger when our disease first shows up. Who knows - much more needs to be learned.

So, since there is no promise of getting to continue the drug, that's not a factor for me. Our trial reached no conclusion - it didn't prove it had benefit or didn't have benefit.

I have had a lot of acid reflux since being in the study, and a lot of digestive problems, but those can also be symptoms of HPS so who knows.

I used to think that if I found out I was on placebo I'd feel kinda silly as I've done well, yet had all these little GI issues. I'd feel like it was all in my head, sort of speak. Now, I almost hope I was on placebo and that I've done so much better than any of my doctors here or at the NIH ever predicted because my body did it on it's own - especially since we won't continue to get the drug.

Hermansky-Pudlak Syndrome albinism 02 / PF 06

www.heatherkirkwood .blogspot. com

> >> >> > Hey there,> >> > Our trial of Pirfenidone for the PF of Hermansky-Pudlak Syndrome is> > coming to an end. (Long story, I'll tell you if you really want to> > know....not not relevant to my question.)> >> > I get to decide if I want to know if I was on active drug or placebo.> I> > think I've made up my mind on the issue, but I was wondering how> anyone> > else that's been in a trial felt about this decision, what weighed> into> > what you decided etc.> >> > I think I'm going to find out for several reasons. First, I just have> > too active a sense of curiousity to let sleeping dogs lay. Second,

in> > our study, those that were on active drug will be asked to volunteer> for> > further bronchs for research purposes. You can't volunteer unless you> > know, and I'd just about anything to further research, so I think I"ll> > find out so that if I was on the drug, I can volunteer and that extra> > little bit of data can be collected.> >> > Just curious to hear other stories on the subject.> >> >> >> > > >> >> >> > Hermansky-Pudlak Syndrome albinism 02 / PF 06> >> > www.heatherkirkwood .blogspot. com> > <http://www.heatherk irkwood.blogspot .com>> >>