Kennedy's Disease Association

A Public Benefit, Non-Profit Organization

"The site is essential for a source for the general public, whenever one encounters the diagnosis of Kennedy's Disease and has no idea what that might be."

Archives - 2015 and Older Transcripts

Topic: Qualitative Study
Guest: Angela Kokkinis, RN
Host: Bruce Gaughran
Hugo Rodriguez Good morning Sfurman
Hugo Rodriguez I read that Angela Kokkinis of the NIH will stay today with us through the chat.
BruceG   Morning
Hugo Rodriguez Hi Bruce
BruceG   Morning Hugo, how are you today?
Hugo Rodriguez Very well Bruce, thanks a lot, what about you?
BruceG   Doing fine, thanks. What is your weather like?
Hugo Rodriguez Here in Queretaro,its nice but we are missing some rain
BruceG   Morning Ted
TedA   Hello from Richmond, VA
BruceG   We are on the dry side also.  About 6" behind already.
Akrn   Hello Everyone, it is Angela Kokkinis I hope everyone is doing well.
Hugo Rodriguez Looks that this year will be very rainy, due to El Niño
BruceG   Morning Angela. Doing fine, thanks.  How are you?
Hugo Rodriguez Hi Angela, I am very happy to have you here
TedA   Hi Angela
Akrn   Doing OK was having some computer problems but figured it out.  So was freaking out a little bit.  Now I am OK.
Hugo Rodriguez How are you Angela
Akrn   I didn't want to miss my chat with the guys
BruceG   Computers can do that to you. :-)
Hugo Rodriguez Thanks Angela
Akrn   So I can talk about the qualitative study and the liver study for a few minutes.  Then if you want to ask any questions we can do that.  How does that sound?
BruceG   Great.
Stewart   great
Akrn   Yes Bruce they can, and I have very little patience with computers.
Hugo Rodriguez Excellent
Akrn   So during the exercise trial, Alice Schindler, Roxanna Benedixen and I asked 20 KD men open ended questions that pertained to how they were told about their diagnosis, did they have good support, were they discriminated against, etc.
Akrn   We have had all the interviews transcribed and our next step is to analyze all the data.  It takes awhile because we have to go through all the interviews and look for trends.
Akrn   So right now we are going through all the data, there is quite a bit.  So right now I don't see any trends that are coming through.
Gary_KC   Goog Morning. This is Gary joining in from KC. It is rainning this morning.
BruceG   Morning, Gary
Akrn   It is still early in the analysis because we have been busy with the Drug Trial and also getting ready to start up the liver study.
Gary_KC   Hi BruceG
Akrn   Good Morning Gary, how are you doing?
frabayrui   buenas tardes desde españa
Akrn   So that is where we are with the qualitiative study.  Still working on it.
BruceG   Angela, I need to catch up, the purpose for the questions was to?
Akrn   Sure Bruce, sorry I did not explain that, we want to see if we can find any trends that might need more analysis in a future study.  We may need to develop other questionnaires to further help us understand the disease process.
Akrn   I also want to apologize, I am VERY behind on returning my calls.  I just want you to know if you called me I got your message and will be in touch.
Gary_KC   Akrn, I am fine thank you.
BruceG   Being told ... confirmation of what you already felt ... is always tough.
Akrn   Yes it is Bruce, when we discussed that with some of the men, it was interesting some of the reactions we got.
Akrn   It will get done there are just not enough hours in the day.
BruceG   I can imagine.  There is hope in all of us that something else is going on and it could be fixed.
BruceG   Moning Ron M
Ron M   Morning Bruce. Morning all
Akrn   Yes, that is understandable we want to fix it too.  That is why we are doing all these trials and working hard to help fix this.  I know we will, it just will take time.  We can't do what we do at the NIH without you all.  It is truly a team effort.
BruceG   Well, we can't say enough how much we appreciae all that you do.
frabayrui   hola Angela desde España
TedA   GO Team!
Akrn   Thank you Bruce I think it is a mutual admiration society with us!
Akrn   So some updates on the other trials, and please just let me know if you have any other questions.
privlab   Beautiful morning in the Carolinas ,hello from Dale,are we still on schedule withthe drug trial and expanding it inJuly?
Akrn   Hi Dale well we are probably looking more at Aug/Sept.
Akrn   We have finished the first phase with the two patients.  Novartis is analyzing all the data.  We may have to adjust somethings with the next phase.  If we do, then we will have to submit an ammendment to our IRB and Novartis will have to submit one to their IRB so it may push things back.
Akrn   The Novartis people are working away and have looked at a lot of the data already.  They should be finished analyzing the data by the end of this month at the latest.
privlab   Is it still looking promising
frabayrui   Angela can tell me if there have been significant improvements in those who have done the exercises?
Akrn   Right now we can't recruit patients for the next phase.  It is still looking promising.
BruceG   We like to hear that.
BruceG   This first phase was to help determine doage, correct?
BruceG   dosage
Akrn   We have done the preliminary analysis on the exercise trial primary outcome measure, the AMAT.  It is now with our statistician and we will get the final analysis from her in a few weeks. Right now it shows that the exercises either group did not show a significant improvement in the AMAT scores.
Akrn   We arent' releasing any results yet until we get the final results from our statistician.
frabayrui   Angela travel expenses of the accompanying fund the clinical trial?
Akrn   The first phase was to see how patients with KD tolerate the subcutaneuos dose.
Akrn   It had not been given in patients with KD and also had not been given as a subcutaneous injection.
TedA   2 was enought to determine the dose?
Akrn   We believe it was enough Ted, it was more of a safety study to make sure it was well tolerated.
Hugo Rodriguez Angela, how much equivalent is Novartis new drug to IGF-1?
Akrn   The new drug is similar to IGF-1 but has other factors added to IGF-1 to help it last in the body longer.
frabayrui   In Padova (Italy) has already begun recruiting patients? And where the clinical trial will be conducted? As I can contact?
Hugo Rodriguez Thanks Angela
BruceG   This next phase is to help determine what?
Akrn   Frabayrui, my understanding was the Italy site is not recruiting yet but I can get you the name of who to contact there.  Please email me at This email address is being protected from spambots. You need JavaScript enabled to view it..
privlab   Italy sounds nice where do Sign.
frabayrui   I am taking Trehalose and I think I do
Akrn   The next phase is more of a phase 2 study, we will have 6-8 patients and there will be a 2:1 ratio, of 2 people get the drug and 1 will be on the placebo.  It will also determine efficacy of the drug.  We will be blinded as to who is on real drug and who is on placebo.  Does that make sense Bruce?
BruceG   Yes, thanks
Akrn   Dale, it is in Padua Italy, and I am with you.  I think they need a research nurse to help them from the NIH, don't you think?
Gary_KC   frabayrui, do you feel any improvement with Trehalose?
BruceG   We'll all cast our vote for YES
Akrn   Frabayrui, I am not familiar with Trehalose, what exactly is that suppose to do?
privlab   Definately , i'll book the flight
BruceG   Angela, are you also working on a questionnaire to help understand more about carriers?
Akrn   Thanks Bruce, you can help me out, let's go guys!  Dale I think we could have some fun in Italy.
Ron M   Morning Mike. Hope u r doing well.
Akrn   So that is where we stand with the drug trial.
jdfish   Hi Angela, did the 2 people in the trial notice any improvements in strength or any other effects?
MikeG   Hi Ron.  Yes doing fine - stress test was fine... I have a healthy heart.  I'm in San Antonio for Sean's wedding this afternoon.
Akrn   Bruce, we did do a study with the carriers, Alice Schindler our genetic counselor, ran that study.  If there are any carriers that are interested please have them contact Alice.  Her email is This email address is being protected from spambots. You need JavaScript enabled to view it..  If that does not work please have them contact me and I will forward them along to Alice.
Ron M   Good news Mike
BruceG   Thanks
Akrn   The two people did not notice any bad side effects, so that is great.  That is the main reason to do the safety study.  One did feel his endurance improved.
Stewart   Once the IGF- 1 trial begins are you still looking at having people come to NIH every week or so?
Akrn   I can't really say too much more until we have all the data back and analyzed.
Hugo Rodriguez Frabaayrui says that he feel
Hugo Rodriguez ... with somo more energy
TedA   Angela, did the 2 get up to the same dose as privious people tested?
Akrn   Yes Stewart, the next phase is the same, have the patients come in every other week as an inpatient and then the other weeks as an outpatient.  The next phase after the upcoming one will be weekly outpatient visits.
Akrn   Hugo and Frabayrui it was they could do activities for longer periods of time.
Akrn   Ted, yes the two did get the same dose as the healthy volunteers.
elvspretzl   Hi Angela, I made my way to the NIH a few years ago (at my expense ... and great effort). I offered myself for any trials and never heard back, save a vague and inuendo from Chris G. I'd like to know if you're going to be investigating the promising studies of Albert La Spada with regards to the skeletal muscle studies?
Akrn   Elvspretzl please email me at This email address is being protected from spambots. You need JavaScript enabled to view it.. I will put you on my list of people to contact in regards to clinical trials.  As of right now we don't have any plans to do skeletal muscle studies.  That does not mean we won't look at it in the future.
Akrn   We are also getting the liver study up and running.  We want to see if and how the liver is affected in KD.  We have a lot of the men in our previous studies, that have elevated liver enzymes.
BruceG   This study should prove interesting.
Akrn   During the exercise trial, we looked a the liver enzymes, had some of the patients do liver MRI spectroscopies and liver ultrasounds.  We did find most of the men, not all , had fatty livers.  So we want to explore that further.
Hugo Rodriguez Frabayrui informed me that Trehalose have showed some benefits and recommende by a physician in Chile and says that a study will be done in Israel.
elvspretzl   Well, as the years have passed, it's probably too late for me to participate in any physical studies as my abilities have declined drastically .... probably beyond the 1-2% progression described to me. I suppose medicinal possibliities exist, but it sounds as thought the trials are filled.
Akrn   We are going to recruit 15 men with KD, 15 female carriers, and 15 healthy controls.
Ron M   Morning David
Gary_KC   Angela, could you explain the liver study for more detail if you can?
Akrn   Hugo and Frabayrui, I will have to look up Trehalose and see what is about.  Sounds interesting.
david   Good morning all sorry to be late, just too nice outside this morning
Akrn   Sure I can explain more of the liver study
elvspretzl   Please do. I'm not familiar with the liver study at all.
Akrn   So we will have subjects come in for blood work, liver MRI and ultrasound.  If they meet the criteria and agree we will do liver biopsies on 10 of the KD patients, 5 carriers and 5 other patients with other motor neuron diseases.  We will are collaborating with liver physicians and they will also consult on our patients.
BruceG   Is this just a study to understand if their is a corralation?
Akrn   Elvspretzl no the studies are not filled yet so please send me your information if you are interested in participating.  Is flying an issure for you?
frabayrui   To see the clinicl trials about trehalose
frabayrui   in Israel
elvspretzl   Is there a resourse that you can direct me to that might explain the purpose of the liver study as it pertains to KD?
frabayrui   that is the farmaceutical laboratory
frabayrui   Bio-blast
Akrn   Yes Bruce it is and also to see what is causing the fatty liver in KD patients.  Is it muscle breakdown that is in the liver or is it true fat deposits.
elvspretzl   Flying is not an issue for me.
Akrn   Yes, Elvspretzl you can look on  The information is listed there.  We will pay for your flights, hotel stay and also meals for you and a travel companion.
Akrn   Good to hear elvspretzl!
elvspretzl   Thank you. I'll investigate.
david   Angela when is the liver study expected to begin?
Akrn   In regards to the liver study, if you all have any sister's or other family members that are carriers please have them contact me if they might be interested in participating.
Akrn   David the liver study is starting now.  So please let me know if you are interested. We would like to bring in the KD patients first.
privlab   FYI  swimming still seems to be the best way to keep mybody moving.It is the only place I feel my body is still normal and flexible.
Akrn   Dale, I think swimming is the best exercise.  I always recommend that to our patients.
Hugo Rodriguez Angela, do you think that me and my daughter are candidates?
david   Angela I had sent an email a few weeks ago but have not heard anything yet.  Should I send in another request?
Akrn   Hugo let me look at your information and I can let you know.
Hugo Rodriguez Thanks Angela.
Akrn   Hi David, i am really behind on contacting people.  Yes please send me another request.
BruceG   So, NIH has quite a bit going on right now in regards to finishing up studies, starting new ones, and recruiting.  I understand why you are so busy.
Hugo Rodriguez Angela, I will contact you by e-mail. I am very sorry on not replying your last message.
Akrn   Hugo never apologize to me.  Yes contact me via email.  That is the best way to get a hold of me.
Akrn   Thanks Bruce, yes we are busy.  I appreciate your understanding.  It is a very busy time, which I like but I just don't have enough hours in my day, as I stated before.
Akrn   I will be in touch with everyone I promise!  Just hang in there and I will be calling.
BruceG   Your work is appreciated. You researchers give us hope.
frabayrui   Angela previous results of the 2 patients in the phase I trial on BVS-857 will know?
Akrn   Thank you Bruce, it is nice to be appreciated and I hope you know how much we appreciate you.
Hugo Rodriguez You´re an angel, Angela.
Akrn   Hopefully by the end of this mont we will know the results of the first phase of the BVS-857 trial.
Akrn   Meant end of the month.  Sorry about that
MikeG   The KDA definitely appreciates ALL that you are doing Angela.  And thanks for being on the chat this morning!!!
privlab   Thanks Angela for all you guys do,I'm sure you have a busy day with the family ahead , I will be in touch and I look forward to seeing you soon.
BruceG   Taking time to bring us up to date is appreciated - especially on a Saturday.
Akrn   You all are welcome and thank you Mike, Bruce and everyone.  I just have one question for you all, who is going to be a the conference this year?
privlab   We hope to be there
Akrn   Do we have an agenda or do you all need any help?
MikeG   Sorry, I'm multi-tasking... my Nephew, Sean Blasko, is getting married this afternoon and I'm texting in between reading the chat.  Sean is our KDA legal advisor...
david   I will be attending this year
Akrn   Great Dale I look forward to seeing Cathy and you again.  It was great seeing you in San Diego!
MikeG   I will!
TedA   Got my room booked!!
jdfish   I plan on going, along with my wife.  Can you get us tickets to a Caps game???
Akrn   OH Mike, please tell Sean congratulations.  Please give my best to ALL your family.  Are you brothers going to be there?
MikeG   San Diego was fantastic!!!
MikeG   DC will be even BETTER!!!!!
Hugo Rodriguez We appreciate very your contact with us.
Akrn   Yes, I love seeing you all there.  Yes, San Diego was fantastic and Old Town is not far from me.  I am excited.  Thank you Hugo!
Akrn   I will be letting all the local guys and others know about the conference.  I really want to try to get some of the locals involved since it is so close.
MikeG   Yes, the whole family is here.  125 people including both families!
Akrn   Wow Mike, please tell everyone I said hello.  You have a great family.  Also give Paula a huge hug from me!!
MikeG   okay, I will.
1gfurman   I am new here can you tell me about the conference?
frabayrui   my sister is a carrier of KDA, may participate in the trial on the fatty liver?
frabayrui   Angela?
Akrn   1gfurman it is a great way to get the latest research information, practical day to day living with the disease information.  It is a great combo of researchers and KD guys.  I really think you should look into coming. It is in Old Town Alexandria this year and it is a great location.  My favorite local spot!
MikeG   it is your extended family - all together discussing all of the KD issues that you want to talk about with the NIH and worldwide doctors and researchers giving us their updates.
Hugo Rodriguez The Conference is going to be held in Oldta
Hugo Rodriguez Oldtown Virginia next november
Akrn   Frabayrui, please email me about your sister, my email is This email address is being protected from spambots. You need JavaScript enabled to view it.
1gfurman   when is it?
Akrn   That is a great way to put it Mike and extended family.  It really is!
MikeG   everyone shoul try to attend - it is really a GOOD experience.
MikeG   YES!
Akrn   Mike what are the dates again, I don't have it handy.
Akrn   I really enjoy the conferences and seeing all my "boys" as Suzanne coined that phrase.  I love it!!!
TedA   Are the conference details on the website?
MikeG   Novenber 11 - 14.
MikeG   See the KDA home page for all of the info or to register.
Hugo Rodriguez Thanks to every one, was a nice chat. Have an excellent june!.
Akrn   I really wanted to try to get Camp KDA for you all but work and family are keeping me so busy.  I have not had a chance to do it.  I really do want to get that up and running.
Akrn   One of my goals
Akrn   Any other questions for me?
MikeG   sorry I was late - I'll need to read the transcript.
Hugo Rodriguez Not from me.
Stewart   Thank you Angela, I’ll be in touch. Everyone take care.
Akrn   You are welcome Stewart, please email me!
jdfish   Thanks for your time Angela!
1gfurman   Thank you for all your doing
Akrn   You bet jdfish, lots of things happening with our Caps, huh?
Akrn   Thank you 1gfurman
Hugo Rodriguez Bye by now.
Gary_KC   Angela, thanks so much for sharing your information with us this morning.
MikeG   Thanks again, Angela.  I need to go.  Take care and be safe everyone!
david   Thanks Angela, Margy says Hi!  Thanks for all you do for us.
jdfish   Will be interesting to see how the new coach & GM work out.
Hugo Rodriguez Frabayrui, escríbele a Angela sobre tu hermana (lo pidió)
TedA   See you in November Angela and everyone eles that is at conference
Hugo Rodriguez I hope so.
Akrn   OK guys, I will sign off please don't hestiate to email me at anytime, This email address is being protected from spambots. You need JavaScript enabled to view it..  Thanks and have a great day.  David tell Margy I said hello!!!  Hope to see you in Nov. if not sooner for one of the trials!  I am sorry Hugo I don't know how to read Spanish.
Akrn   Sounds good Ted and Hugo I would love to see you there.
Akrn   Bye everyone!
Ron M   Be well everyone. Enjoy your weekend.
david   See you in November, I think there is a song in there