Kennedy's Disease Association

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"The web site acted as a central organizing influence for the sharing of information and brotherhood. Without the KDA, I was alone, as this disease is very rare and even my neurologist was less than fully knowledgeable."

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Kennedy's Disease Chat Transcript  08-06-2005

Topic:  Special Guest - Kenneth Fischbeck, M.D.

Host: Ron Wiker


Chat Participants:



Terryw: Hi All

doughboy: Hi Terry

doughboy: I hope we have a good turnout today

LouLou's new status is 'administrator'.

Dr_F1184 entered the room.

Dr_F1184: I'm here. KF

Terryw: hi

murf: Dr. Fischbeck is that you?

doughboy: HI DR. from Texas

Dr_F1184: Yes KF

LouLou: Dr Fischbeck---Welcome to the chat.

Dr_F1184: I will try my best to keep up with my 2 finger typing.

doughboy: I have waited for this day forever, it's an honor to have you join us!

Chuck entered the room.

murf: We also type slow

LouLou: We even read slow.

Dr_F1184: I hope I can live up to doughboy's expectations!

Gopher entered the room.

doughboy: Are you at NIH also as Dr. Chen is? I'm going to be seen at the clinic there Sept. 12th

doughboy: Everything I have heard about you seems exciting!

LouLou: Just having you on the chat to answer questions is great!!!!

Dr_F1184: No. I am now on a 6 month sabbatical at Merck Research Labs in Pennsylvania

doughboy: You can call me TJ

LouLou: Hi Gopher--Good morning.

doughboy: Oh okay I thought maybe I'd get to meet you

Gopher: Good Morning

LouLou: Good morning Anna Lea and Chas.

doughboy: Are you ready for questions yet or do you just want to update us first on anything new?

Michael17860 entered the room.

Bruce entered the room.

Dr_F1184: Our group at NIH is still going strong, though, and I am in frequent touch with them. Dr. Chen & the others there should give you a good evaluation & fill you in on the KD research we are doing.

murf: Morning Chuck & Gopher we have Dr. Fischbeck on line

Bruce: Good Morning World

doughboy: Hi Bruce

murf: morning Bruce

LouLou: Good morning Michael and Bruce.

Gopher: I am not familiar with NIH. Where is it?

murf: Bethesda MD

Michael17860: Good Morning all.

doughboy: Dr. Fischbeck, are there any correlations between severity of the disease and higher repeats? My repeats are at 61?

Dr_F1184: I have some recent news from the clinical trial in Japan. Dr. Sobue's group did a thorough controlled study of leuprolide treatment...

doughboy: tells about please

Terryw: Dr. F I was just going to ask that

Dr_F1184: Repeat length does correlate with severity, but only roughly. Patients with the same repeat length can have much different severity.

doughboy: What's the highest you've seen

Bruce: Let's let the doctor tell us about Dr. Subue's trial.

Dr_F1184: The longest repeat length we've seen is 66.

doughboy has left the room.

murf: TJ where did you go?? LOL

FL-DON entered the room.

Gary_KS entered the room.

Bruce: Morning Don and Gary


Gary_KS: Good morning! Gary Uchiyama from Kansas City. It is nice day in here!

Gary_KS: Hi Bruce!

LouLou: Dr Fischbeck--Why is it that some days we get tired alot quicker in the day than other times. Even if we don't do more tiring work? Good morning Don and Gary.

fernando: Hi Don friend

Dr_F1184: Sobue's group treated patients with leuprolide for 12 months, and they did see effects on serum Creatine kinase and pathology (inclusions of mutant protein in skin cells), but the informal word is that they did not see a significant difference in muscle strength. they feel that to see a difference they may need to treat longer.

doughboy entered the room.

Terryw: TJ, I think we have that question you asked on repeats in a past Doctors chat

Bruce: So, Doctor, no miracle treatment yet.

doughboy: Thanks Terry

Dr_F1184: Fatigue can be a problem in KD, and oftentimes it's not clear what makes it better or worse. I suppose rest, exercise, and stress could all be factors.

Bruce: Doctor, has there been any research done on why on KD patient has certain symptoms and another doesn't experience those symptoms?

murf: I'll agree with the stress

doughboy: Me too Murf, I think it's killing me according to Dr. Appeal.

Bruce: I have noticed that stress is a major contributor to several symptoms.

doughboy: Appel

Dr_F1184: We (Dr. Chen, that is) are still working on a trial with dutasteride, and there is some reason to expect better results with that. I also have talked recently with Angelo Poletti from Milan about other drugs, and this is something I'd like to discuss with researchers here at Merck.

Gopher: Rest is also very important...for my husband

Terryw: Dr. F Who can be included in the clinical trial that Dr. Chen spoke of that is about to begin at the NIH. How are they chosen?

LouLou: Dr. F.--Will the clinical trial by Dr Chen still be in Aug and how many will participate?

doughboy: Is it safe to say Sr. Fischbeck that any improvements are drugs we find will actually help our next generation and not really us so much?

Dr_F1184: There may be other genetic & environmental factors that affect the disease manifestations that we have yet to identify. This is something we would like to look at in the dutasteride trial we are planning.

Terryw: Lets let Dr.F catch up with the ?'s

doughboy: Terry I talked to Dr. Chen and made Murf a, Bill and I an appointment at NIH for Sept 12th she said once we were seen there then we would be in their database and could probably join the trial

doughboy: She said only 20 were registered there and they needed 40

Dr_F1184: hard to say when the trial would start. I would like to get the protocol submitted for IRB (Institutional Review Board) review in the next month or so, and the review process can take at least a couple of months. We are currently planning on enrolling about 50 patients and would provide travel support for patients to participate from across the US and also from other countries. GSK has agreed to provide the drug for the trial.

Dr_F1184: We hope to see improvement in people who are currently affected by KD, not just future generations.

doughboy: That would be great

Terryw: Dr. F if you need more KD patients for the trial we can put out an e-mail to our KD Database.

fernando: enrolling people form other countries?I´m from Spain, and if i had my travel paid, I would like to participate on the trial...

Dr_F1184: We have been slower than we initially planned in starting this trial, in large part because we have been waiting for the Japanese results and results of mouse studies from Dr. Merry's group. Dr. Merry's mouse studies are still in progress.

doughboy: Dr. have heard or seen anyone whose chest muscles hurt 24/7. mine does and has for about 8 months. My brothers does 2 I don't know about my 3 cousins

LouLou: I would still like to know if the super mouse model can be made to give us KD'ers more strength?

doughboy: Sometimes I think mine is weather related!

mobiusloop entered the room.

Gary_KS: Dr. F, could you tell us what is Dr. Merry's mouse studies?

Dr_F1184: Once the protocol is approved, we plan to get the word out through the KDA, the MDA, and other organizations. Anyone who wants to get on the list should contact our genetic counselor Alison La Pean (This email address is being protected from spambots. You need JavaScript enabled to view it.) or our patient coordinator Tasha White or Dr. Chen.

Bruce: Dr. F., over the last few years my left knee has been buckling without notice causing me to drop straight down (often resulting in severe breaks or fractures). I am seeing an acquaintance of yours John Sladky. We are checking around to see if anyone has developed a quad/knee brace that would support the muscles and protect the knee. Have you seen anything that works with your patients?

mobiusloop: Sorry, I've come a little late for the party.

Dr_F1184: I have chest muscle pain myself, which I think is due to overexertion. Could that be part of the problem?

LouLou: Dr. Fischbeck--Are the other researchers sharing more information with each other? I think this would stop duplication of research.

LouLou: Good morning mobiusloop.

Dr_F1184: Dr. Sladky is good. Maybe he could also refer you for a Physical Medicine & Rehabilitation evaluation to determine how well a brace could help you. I think it would be worth a try.

Bruce: Thanks

mobiusloop: Can you tell us what has been the experience with growth hormones and steroids? At 78 years I'm not to worried about long term effects.

Dr_F1184: There was a good exchange of information at a Gordon Research Conference last week in Massachusetts. that's where I heard the results of the Japanese trial, from Dr. Katsuno who works with Dr. Sobue. Drs. Merry, Lieberman, Taylor, Poletti, and La Spada were all there. Dr. Merry was one of the organizers.

doughboy: No sir, I really don't exert myself, even my ribs hurt, my neurologist and PCP think my cartilage is shrinking!

FL-DON: I got a brace which goes from the middle thigh to under my foot. it is terrible. I now use it as a tomato stake

doughboy has left the room.

LouLou: Dr. Fischbeck--is there anything you might tell us about Merck coming up with any drugs to help KD'ers?

murf: TJ keeps getting phone calls that knock him off the chat

Dr_F1184: There's not much known about potential effects of steroids & growth hormones, except that androgens are anabolic steroids and have adverse effects in KD mice. I plan to talk with people here at Merck who are working in this area.

MikeG entered the room.

LouLou: We have such a varied array of problems and symptoms not any one drug would help all.

LouLou: Hi Mike G....How are you?

Gopher: What are some of the drugs being used?

MikeG: Hi - doing ok I guess... my computer could be better though

Dr_F1184: Agreed. It may take combination therapy. But I think there's a good chance that treatments under development for other disorders such as prostate cancer and age-related muscle degeneration could help for KD.

Dr_F1184: Doughboy, if you find out the cause of your chest pain let me know. I may have the same problem.

doughboy entered the room.

doughboy: what did I miss

Gary_KS: Dr. Fischbeck, if the current trail drugs such as anti-androgens can slow down the progress, how we can gain the muscle strength with exercise but without the androgens? It is inconstant, isn't it?

mobiusloop: You say adverse affects on mice. Long term or short term?

doughboy: Dr., I was hoping when I am seen at NIH on Sept. 12th maybe they would have an idea of what the chest pain is from, I thought maybe it was from having my breast reduction surgery

Dr_F1184: Yes, that's the challenge with anti-androgen treatment, to get the benefit of blocking the effects of the mutant androgen receptor without losing the strengthening effects of androgens. Dutasteride may do this, but there may be other drugs under development that work better.

Bruce: Dr. F, I continue to read about a potential correlation between research for Huntington's and KD. If that is true, what characteristics make them similar?

doughboy: breast

Dr_F1184: Yes, Dr. Chen and the others at the NIH can check this out for you.

LouLou: I think all KD'ers worry that the chest pains might be heart related rather than just chest muscle related. After all KD affects the muscles and the heart is a muscle.

Gary_KS: Thanks, Dr. Fischbeck.

doughboy: Yes, I have gone many times in the night to the hospital for an EKG

Dr_F1184: Androgens have adverse effects in transgenic mice with the KD gene. The androgen effect likely explains why men & not women come down with KD.

Dr_F1184: KD shares with Huntington's and 7 other diseases the same kind of mutation that causes polyglutamine expansion. It may be that there is a common underlying mechanism that offers a common approach to treatment.

Bruce: Thank you

doughboy: So is it true that 1 in 40,000 have KD, I read that somewhere

MikeG: Bruce, that's what I was first diagnosed with.

Gary_KS: Dr. Fischbeck, It takes short time to get the result for the mouse model, but it may take 2-5 years for the human to see the gain. Why it takes such long time to see the changes for the human?

Dr_F1184: KD does not affect the heart muscle as far as we know. Cardiac pain is somewhat different from chest muscle pain, but it can be hard to tell the difference sometimes.

doughboy: I've also read that KD patients also lead a near normal life, what are they calling normal

LouLou: Hey Doc--You have had alot of questions thrown at you. You are doing great!! THANKS!!

doughboy: Good question, Gary

Dr_F1184: The estimate of 1 in 40,000 is pretty rough, but it fits with our experience in the Philadelphia area. KD is probably more common in Finland and in parts of Japan.

mobiusloop: I have severe disc degeneration in lumbar area which masks symptoms of KD. A fusion is in order as a last resort unless the weakness in my left leg is more from KD than back. Also neuropathy in both feet. I can still walk with a cane at 78. Do you have any word I could tell my orthopedic doctor

Gopher: that is my question also doughboy...what is normal? life expectancy

mobiusloop: Dr. Chapman at U of W in Seattle

doughboy: Well my to cousins died from respitory related problems with their KD in their early fifties and I'm sure it effects everyone differently

Dr_F1184: The mice have a more accelerated form of KD. Also the Japanese mice are more severely affected than Dr. Merry's. We can get even faster answers from Drosophila (fly) models of KD. These were developed in Japan and are being studied by Dr. Taylor at the Univ of Pennsylvania. We don't know for sure that a treatment that works in the more severely affected flies & mice will work in human patients. That takes time.

doughboy: My neurologist told me the other day that I also have bad disc, news to me is that related to KD

doughboy: Rome wasn't built in a day, I suppose!

doughboy: Patience is a virtue!

Gary_KS: Thanks. Dr. Fischbeck.//0

Gopher: My husband also has bad back pain and we thought fromEMGit was a symptom of KD

Dr_F1184: I have known some patients to die of recurrent pneumonia & respiratory problems in the 50s, but most patients I've known have lived out a normal life expectancy. It is important to get good respiratory care, including annual flu shots and pneumonia vaccine.

Bruce: AMEN!

LouLou: Dr. Fischbeck--would any of Dr Soube's subjects be used in the experiments at NIH?

Michael17860: Dr. Do the CAG repeats change as time go by, or do they stay the same.

murf: This is why I quit smoking 6 months ago!

Dr_F1184: For mobiusloop, you can have your orthopedist get in touch with us (me or Dr. Chen) if he has any questions about KD.

FL-DON: doc, is there anywhere where we can go to have our cga repeat numbers calculated?

mobiusloop: Seems to me us older guys could take more risks with experimental drugs if they show even short term gain. What have we got to lose.

doughboy: I have found that most Dr.'s I see, have very limited knowledge of KD if any at all, maybe Dr's should be sent updates on KD

Dr_F1184: It would be hard to import patients from Japan for our trial. I think there are plenty of patients available in the US, Canada, and perhaps Europe. I've spoken several times with a Dr. in Ulm, Germany who would like to participate, also.

doughboy: Murf why did you quit?

murf: Because I wanted to live a long normal life.

Gary_KS: Dr. Fischbeck. I am Japanese.

LouLou: Thanks Doc. I thought because of the greater numbers of Japanese having KD it might be beneficial to have them in the clinical trials.

doughboy: Murf your not normal, goofy, LOL

Dr_F1184: CAG repeat lengths remain pretty much stable over your lifetime, but can vary when passed from one generation to the next. Repeat lengths can be determined from blood samples at various commercial labs, including Athena and Baylor.

FL-DON: ty doc

Michael17860: Thanks Dr.

mobiusloop: Thank you Dr.

Dr_F1184: I quit smoking myself 30 years ago. I still miss it occasionally, though!

murf: TJ that's why you & I fit in

doughboy: Has anyone here ever had the tiredness in their arms and legs just simply disappear?

doughboy: Got that right Murf

Bruce: Dr. F., on a personal note, how does it feel to be back in your old stomping grounds (at least for six months anyway)?

murf: Dr. F do our CAG repeats increase or could they throughout our lives?

Dr_F1184: It is definitely better not to smoke, for anyone but particularly if you have a disease that can affect respiratory function like KD

Gopher: Any rough idea of how many people have been diagnosed withKD?

johnweeb entered the room.

doughboy: That's the only relief I get (enjoyment) I'm tired of taking pain pills,Xannax and Flexiril

Dr_F1184: My wife & I like Pennsylvania. It seems more real than life inside the Beltway!

FL-DON: its just an excuse doughboy

doughboy: What smoking, maybe but sounds good to me

LouLou: Gopher--Not sure how many---But I know of 1 who wished I weren't diagnosed with KD. Still alot better than MS or Lou Gerihg disease.

FL-DON: whatever

Dr_F1184: A good question about how many people have been diagnosed with KD, and I don't know the answer. It would be interesting to check with the diagnostic labs to find out what their experience has been.

murf: Don - I've been trying for months

Gopher: Agree lou lou, but it seems so rare

Dr_F has left the room.

FL-DON: doc, time is almost up, and I want to thank you for all your efforts through the years on KD related activities.

murf: Someone said that his CAG repeats increased is this common?

LouLou: Hey Doc--If you get into the Lancaster area in PA--Give a call--We'll do lunch--My treat.

Michael17860: Dr. do you know the name of the drug that Dr. Merry is working with?

doughboy: Dr. F said that normally they stay pretty well the same

Chuck: Dr. F. This is Charlie Rannells and I thoroughly enjoyed your participation in the chat today and thanks so very much. I participated in the trial of testosterone in the early 90's and looking forward to this one. My legs has gotten much weaker in the past year but I am still moving in the house with a cane. Good luck in your new endeavor.

FL-DON: keep it up murf. its worth giving up

Dr_F1184: Dr. Merry is testing dutasteride in her mice. That's the same drug we plan to test in patients.

johnweeb: Sorry to be late. I wanted to ask about CPK, which was the only problem area in my recent physical. Count nearly 600 and affecting muscles. Common? Suggestions? My dr is clueless.

Dr_F1184: CAG repeat lengths usually don't change over your lifetime.

FL-DON: chuck, I was also in the Ohio state test in the early 90's. I remember the adversae effect of the Luprolide

Dr_F1184: CPK is almost always increased in KD. Sobue's group found it to decrease with leuprolide treatment.

MikeG has left the room.

johnweeb: is leuprolide a drug?

fernando: As help to maintain a bit stronger my muscles I take a drug "mestinon" since was diagnosis as KD 13 years ago

Dr_F1184: Yes, it's brand name is Lupron.

LouLou: Terry--I see you are still on line--will you save the chat? I don't want to lose any of the questions or answers.

Chuck: Don, I recall that. I did the Pittsburgh trial since it was much more convenient for me. I thought I felt better muscle wise while on testosterone and continue on it for several years after the trial.

Dr_F1184: Mestinon is generally used for another disease, myasthenia.

Terryw: Yes I will

LouLou: Thanks!!!

mobiusloop: May be it's significant that I have never smoked. I also do deep breathing exercises and tongue thrusting with jaw stretching (like yawning) which I think helps with my swallowing. How do I get in on these tests

Dr_F1184: Good to chat with you all!

FL-DON: mda docs made me get off testosterone due to adverse effects. while testosterone helped, I don't want to fight cancer

johnweeb: doctor, how do yow feel about qi gong and acupunture?

FL-DON: thanks again doc

Dr_F1184: I don't know qi gong. Acupuncture I think can help with stress-related symptoms.

Chuck: Yes, Don that is the reason I quit also...

fernando: yes, i know but my neurologist give me that and if a day do not take them, i feel weakness, could be psichological, may be

mobiusloop: Thanks again too

murf: Thanks Dr. Fischbeck - we really appreciate you hard wotk and dedication!!

LouLou: Thanks Dr Fischbeck for joining us this AM. Hope you can come on board again. THANKS!!!

murf: work

Gopher: Thanks Great Chat Room today