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  • Can you please describe general stages of HD, to help us anticipate and prepare? If this is covered in a session today, please share main points and resource for further information in Q&A. Thank you! Dr. Mary Edmondson’s talk illustrates the different stages of HD by describing one person’s progression through the disease. For a more clinical look at the stages, check out this page on our website:
  • Can you please explain in detail how in vitro works for someone who is at risk of HD and does not want to pass it on to his or her children?Here is how the National Institutes of Health US National Library of Medicine describes the procedure: “Preimplantation genetic diagnosis (PGD) is a form of prenatal diagnosis applied to potential parents with known carrier status of a genetic disease, such as Huntington disease. It employs the use of polymerase chain reaction to amplify single cells from early embryos obtained with in vitro fertilization (IVF) techniques. PGD allows the couple the chance to have a pregnancy and livebirth child without Huntington disease, although there are some risks and expenses related to the procedures. Success of the procedure may be greater than standard IVF because the patients are not infertility patients, but are undergoing the procedure to avoid passing a highly deleterious disease gene to offspring. Recent advances in sequencing may allow for higher success rates as the chromosomally abnormal embryos will be identified more easily and the embryos with the highest chance of survival will be transferred. HD Buzz covered this topic in 2011 and described the options in a very understandable manner:
  • Do you have any update considering F-Hoffman La Roche global phase 3 clinical trial for drug development? Is there anything that patients relatives should do in order to have access to this trial results? I would direct you to view Dr. Victor Sung’s presentation where he reviews the latest updates regarding this trial ( specifically starting at minute 10 and running through minute 23 ).  According to Dr. Sung, the phase 3 trial is now called Generation HD1 and is currently ongoing.  All 660 slots for this current global trial were filled by early October 2019.  This phase will last 25 months.  Outcomes and clinical data have not been released as the trial is in progress.  According to many of the experts on our panel, we anticipate the news, regardless of the clinical outcome, will be shouted from the rooftops as soon as it is available.
  • I am 75 years old with a HD Cag Repeat of 39. I don't have any obvious symptoms of HD yet. My mother started showing HD symptoms in her early 70's.  What is my prognosis? Do I qualify for any studies? That’s great that you are not feeling any obvious symptoms of HD. Since HD affects people in unique ways, we can’t offer you a prognosis over the internet. However, we do know that people with lower CAG repeats typically progress through the disease more slowly. We recommend a visit to a neurologist who is knowledgeable about Huntington’s Disease to get an assessment. Your doctor may also recommend some medications or other adjustments to help you continue to live well.
  • Is there a cure for HD? Is there a way to slow it down? My mum passed away because of HD and I was wondering If me and my sister can have it. We did a test and we got 2 different results in which it said that my sister can have a chance to have that. I'm really worried. She also has a little boy age 4 do you think that he might have it?? Currently there is no cure for HD. There are many adjustments you can make and medications you can take that will help a person live well with HD for as long as possible. However, there are no medical treatments that will slow down the deterioration of the brain. If your sister has the gene expansion for HD, then each of her children have a 50/50 chance of also having the gene expansion.
  • With new advancements, how many years do you think it could be before a "cure" or "treatment" is complete? I’m going to provide a GUESS because we do not know when a cure or treatment will be available. My GUESS is that a “cure” for HD is at least 10 years away because the research is still in the discovery stage. Research on treatments is much more advanced. Scientists are currently testing treatments that slow the progression of the disease to determine safety and efficacy. The results continue to be promising, but until the tests are complete and the results evaluated, the scientists won’t know if the treatments are safe and effective. IF one or more of the treatments being tested PROVES effective and safe, I’m GUESSING they will be commercially available in 3-5 years. I’m also GUESSING that the treatments won’t be available to everyone with gene expansion for HD at the very beginning. Since the treatments are being tested on individuals who meet specific criteria, they are not going to know if the treatments are safe and effective for people outside of that criteria until they conduct more tests.  
  • Question WRT HD-1 Clinical Trial happening currently in Phoenix and nationwide.  What kind of timeline do we expect to see this treatment come into production once the trial finalizes in a few years? Check out the answer to question three. According to NIH’s US National Library of Medicine, this study’s estimated completion date is August 1, 2022.
  • Spouse with HD has refused medical/dental care since 2014 and engaged in minimal or no dental hygiene. She has had several toothaches, broken teeth, abscesses. She has recently begun to try to brush her teeth but cannot due to motor problems. She may be getting close to allowing a dental exam or cleaning. Any suggestions for medications to control the motor movements that would allow a dentist/oral surgeon or dental hygienist to perform their work? Dr. Mary Edmondson addressed this question in the Ask The Experts panel. To summarize her recommendation, you should consider bringing your wife to an oral surgeon who can properly use sedation.
  • With the recent success of the RG6042 and the promise of the Wave trail, how close to a treatment are we realistically for HD? Please see the answer to question six for my GUESSES.
  • Do you see the Generation HD1 -RG6042 offered you pre-symptomatic at-risk people? When? It is currently not being tested on pre-symptomatic individuals because the scientists would not be able to easily measure effectiveness. Once the pharmaceutical companies can PROVE through their research that their treatments are safe and effective for people with symptoms of HD, they will continue to work to figure out if their treatments are safe and effective for people who are not symptomatic. My GUESS is that this will be 5-10 years from now.
  • My spouse is 70 years old in the advanced stages of HD. She wants to go to bed at 5:00 or 6:00 pm. But then wants to get up for breakfast at 2:00 or 3:00 a.m. Any suggestions on how to help her get back on a normal sleep-wake schedule? This sounds like a challenging situation where her days and nights might become mixed up if the trend continues!  Some suggestions are to keep a schedule for meals and resist serving dinner/breakfast any earlier.  Ideally you would also start keeping her awake a little longer in the evenings, say by 15-30-minute increments, so that she will still sleep her 9 hours but awaken at a more reasonable hour.  You and your family may have to get creative and find a distraction or fun activity to do with her around 5 or 6pm when she typically wants to go to bed.  Another area to look at are her medications.  Do any of her medications make her drowsy? If so, when does she take them?   You may have to work with her doctor to see if these medications could be administered later in the evening.  Additionally, HD Reach social workers are here to help and are a phone call away!
  • Who is tracking the outcomes of patients with HD who also test (or have tested) positive for COVID19? As a health practitioner I anticipate the HD population, particularly those at more advanced stages of HD, would be at higher risk for adverse outcomes from COVID19. Unfortunately, we don’t have answers to these questions based on research or gathered data as this moment.  What we can do is turn to the experts for their guidance and options.  A great resource on COVID 19 and HD can be found at HD BUZZ.  The article, “What does COVID-19 mean for Huntington’s disease families and HD research?  COVID-19 update: what does it mean for HD families, how does it impact HD research, and how has it changed the way science works?” by Dr Sarah Hernandez and Dr Ed Wild was posted on April 6, 2020 and can be found here:
  • What research or data is available to determine implications on the HD community? Particularly wondering given that in healthcare we anticipate notable delay before a vaccination is available for COVID19 and that it will likely return in full force this fall. Same answer as #12.
  • Lastly, what guidance is being considered as we look at implications for HD care, caregivers, and prevention? Specific guidance for the HD community including for caregivers and health professionals would be extremely valuable. Here’s some guidance that we developed at HD Reach to help families navigate through Coronavirus. Planning is the first piece of advice. Plan for a caregiver becoming ill by preparing a backup person or team with pertinent information for taking care of the person with HD (their regular routine, triggers that cause challenges, strategies for keeping everyone happy, all of their doctors’ contact information, HD Reach’s contact information, favorite foods, foods to avoid). Plan for person with HD needing outside help from people who aren’t familiar with HD. Keep a 30-day supply of medication on hand.

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