If you missed the 2014 Midwest XLH Day (or went, but wish you'd taken notes during the speakers' presentations), we now have the videos available at our very own Youtube channel, so you can get the valuable information from home, at your convenience. You can find the videos here (after you click on the "videos" tab): https://www.youtube.com/channel/UCOCxS6CV6NeNxoFFivOyNpg
We'll be adding to the collection with videos from the 2015 West Coast XLH Day and future events, so make sure to subscribe to get notifications of new content. For now, we have five videos from Midwest XLH Day: Opening remarks by President Becky Mock; Carolyn M. Macica, PhD., on XLH Beyond the Adolescent Years; Erik A. Imel, M.D., on XLH and FGF23; Michael J. Econs, M.D., with a brief history of XLH; and closing remarks by President Becky Mock. You'll also find a playlist with links to other relevant videos.
And just in case the videos inspire you to contribute to medical understanding of XLH, the Burden of Illness study is still accepting responses. Also, we recently received word that the Burden of Illness study has been translated into Portuguese (for residents of Brazil), and Spanish (with three different versions, depending on whether you reside in the U.S., Mexico or Latin America), so if you were unable to participate before because of the language barrier, now you can participate.
Here's the link (and use the dropdown menu to choose a language and country): https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
Showing posts with label burden of illness. Show all posts
Showing posts with label burden of illness. Show all posts
Wednesday, July 15, 2015
Wednesday, March 11, 2015
Burden of Illness Study data
The first official presentation of the XLH Burden of Illness Study's data happened this week at the 2015 ENDO Meeting of the Endocrine Society in San Diego, CA.
It comes as no surprise to XLH patients that the study confirmed that "XLH can lead to significant long-term morbidity in the form of pain, stiffness, functional limitations, and fractures," but it has long been a widespread belief among the medical community (outside the few specialists in XLH) that the condition was primarily one of childhood, without long-term consequences.
For anyone who hasn't already completed the study, it has been extended, and you can contribute your information here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
For more on the Study's data, see the full press release here: http://globenewswire.com/news-release/2015/03/09/713519/10123739/en/Ultragenyx-Announces-Presentation-of-Disease-Burden-Data-in-Adult-Patients-With-X-Linked-Hypophosphatemia.html
It comes as no surprise to XLH patients that the study confirmed that "XLH can lead to significant long-term morbidity in the form of pain, stiffness, functional limitations, and fractures," but it has long been a widespread belief among the medical community (outside the few specialists in XLH) that the condition was primarily one of childhood, without long-term consequences.
For anyone who hasn't already completed the study, it has been extended, and you can contribute your information here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
For more on the Study's data, see the full press release here: http://globenewswire.com/news-release/2015/03/09/713519/10123739/en/Ultragenyx-Announces-Presentation-of-Disease-Burden-Data-in-Adult-Patients-With-X-Linked-Hypophosphatemia.html
Thursday, December 4, 2014
Last chance to participate
If you want to have some input into future research and the clinical understanding of XLH patients' experiences, you're running out of time to participate in the Burden of Illness survey. The last day to accept input is this coming Monday, December 8.
It's a busy time of year, so don't wait or you'll probably get distracted with other things. Follow this link now:
https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
And note that the survey is available in French now, in addition to English!
It's a busy time of year, so don't wait or you'll probably get distracted with other things. Follow this link now:
https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
And note that the survey is available in French now, in addition to English!
Wednesday, November 19, 2014
Helping the researchers
We're coming up on the traditional time to think about what we're grateful for.
We'd like to suggest that you think about some people you probably haven't met: the researchers working on a cure for XLH. They need our help.
Until recently, research was done without much consideration of the patients' day-to-day needs. While a great deal of good work was done, it's not the only way to proceed and may well not be the most efficient way to proceed. Finally, patients are being given the opportunity to contribute to the research in a variety of ways.
At the moment, we in the XLH community have three opportunities to participate in such patient-centered research.
The newest one is the Rudy study, now open for registration to all adults and children with XLH who live in the UK. The aim of the study is to improve understanding of all aspects of rare bone diseases with the aim of developing new tests and treatments to improve patients’ lives. Rudy is led by a research team at the University of Oxford which is funded by the NIHR Rare diseases of Bone, Joint and blood and the Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford. If you are interested in finding out more including how to register please check the library on their website www.rudystudy.org.
The second opportunity i s coming to a close just as the Rudy study begins. It's the Burden of Illness study that is available to patients, both adults and children, worldwide. You can read more about the study here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
Please note that this is your last chance to participate in the Burden of Illness study. December 8, 2014 is the last date for the study to accept information.
Another current opportunity is the "graduates" study by Dr. Whyte, which is open to patients who were treated as children at the Shriner's Hospital in St. Louis. If you're eligible for that study, you can read about it here: http://xlhnetwork.org/files/9613/9931/2887/Graduate_Study_Flyer_Edited2_1.pdf
As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the study's documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family.
We'd like to suggest that you think about some people you probably haven't met: the researchers working on a cure for XLH. They need our help.
Until recently, research was done without much consideration of the patients' day-to-day needs. While a great deal of good work was done, it's not the only way to proceed and may well not be the most efficient way to proceed. Finally, patients are being given the opportunity to contribute to the research in a variety of ways.
At the moment, we in the XLH community have three opportunities to participate in such patient-centered research.
The newest one is the Rudy study, now open for registration to all adults and children with XLH who live in the UK. The aim of the study is to improve understanding of all aspects of rare bone diseases with the aim of developing new tests and treatments to improve patients’ lives. Rudy is led by a research team at the University of Oxford which is funded by the NIHR Rare diseases of Bone, Joint and blood and the Oxford NIHR Musculoskeletal Biomedical Research Unit, University of Oxford. If you are interested in finding out more including how to register please check the library on their website www.rudystudy.org.
The second opportunity i s coming to a close just as the Rudy study begins. It's the Burden of Illness study that is available to patients, both adults and children, worldwide. You can read more about the study here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
Please note that this is your last chance to participate in the Burden of Illness study. December 8, 2014 is the last date for the study to accept information.
Another current opportunity is the "graduates" study by Dr. Whyte, which is open to patients who were treated as children at the Shriner's Hospital in St. Louis. If you're eligible for that study, you can read about it here: http://xlhnetwork.org/files/9613/9931/2887/Graduate_Study_Flyer_Edited2_1.pdf
As always, the XLH Network, Inc. does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the study's documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family.
Wednesday, October 8, 2014
Some initial survey results
The lead scientist in charge of the Burden of Illness survey that we've been talking about (if you haven't taken it yet, consider doing it now by clicking here), Ali Skrinar, PhD, MPH, with Ultragenyx was kind enough to share with the Network's Board some preliminary information about what she's learned already from the responses to the survey.
We can't get into all the details, especially since this is just preliminary information at the mid-point of collecting data, but Dr. Skrinar is excited about what she's learning and finally having statistics to back up what we know anecdotally. It won't come as any surprise to an XLH patient that the data confirms that, as a group (and this is a generalization, with outliers, so it doesn't necessarily apply to everyone), we're shorter than most, we have more bone/joint pain than most, and we have dental issues.
No surprise, right, but this is the first time that we know of, where researchers had data to back this up, and scientists don't believe anything without data (or, actually, without multiple sets of data, but for right now, we're happy to have one set!). The plan is for this data to be published, so there will finally be a medically recognized resource that both medical professionals and patients can refer to.
Dr. Skrinar was thrilled by the response so far, but like us, she's greedy for more, more, more. The more data she has, the more confidence she can have in her conclusions and the more attention the medical community will pay to the survey results.
The data collection will end December 8th, so we're getting down to the final weeks. She'll be grateful for any additional responses whatsoever, but in particular, she'd like to see more responses on behalf of children. (Note that the early glitches reported with respect to filling out the survey for children have been fixed, so if you held off, there's no need to wait any longer.)
Dr. Skrinar also has on her wish list the possibility of hearing from more adult males, since significantly more adult females have responded than males. For years, it's been reported, both in personal conversations and in journals, that the symptoms may be more severe in male XLHers than female XLHers. While this survey doesn't directly address that issue, it's possible that getting more responses from XLH males will give researchers at least a glimmer of an idea of how to investigate that issue.
As always, the XLH Network, Inc. does not endorse or critique specific research surveys, and does not counsel individual patients either for or against participation in any specific survey. Prospective volunteers should always carefully review the research survey's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
We can't get into all the details, especially since this is just preliminary information at the mid-point of collecting data, but Dr. Skrinar is excited about what she's learning and finally having statistics to back up what we know anecdotally. It won't come as any surprise to an XLH patient that the data confirms that, as a group (and this is a generalization, with outliers, so it doesn't necessarily apply to everyone), we're shorter than most, we have more bone/joint pain than most, and we have dental issues.
No surprise, right, but this is the first time that we know of, where researchers had data to back this up, and scientists don't believe anything without data (or, actually, without multiple sets of data, but for right now, we're happy to have one set!). The plan is for this data to be published, so there will finally be a medically recognized resource that both medical professionals and patients can refer to.
Dr. Skrinar was thrilled by the response so far, but like us, she's greedy for more, more, more. The more data she has, the more confidence she can have in her conclusions and the more attention the medical community will pay to the survey results.
The data collection will end December 8th, so we're getting down to the final weeks. She'll be grateful for any additional responses whatsoever, but in particular, she'd like to see more responses on behalf of children. (Note that the early glitches reported with respect to filling out the survey for children have been fixed, so if you held off, there's no need to wait any longer.)
Dr. Skrinar also has on her wish list the possibility of hearing from more adult males, since significantly more adult females have responded than males. For years, it's been reported, both in personal conversations and in journals, that the symptoms may be more severe in male XLHers than female XLHers. While this survey doesn't directly address that issue, it's possible that getting more responses from XLH males will give researchers at least a glimmer of an idea of how to investigate that issue.
As always, the XLH Network, Inc. does not endorse or critique specific research surveys, and does not counsel individual patients either for or against participation in any specific survey. Prospective volunteers should always carefully review the research survey's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Wednesday, August 13, 2014
Top 5 Reasons to take the Burden of Illness Survey
Reason #5... It's easy. To get started, just click here: or go to https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
Reason #4...If everyone does it, I'll stop pestering you about it, and we can talk about something more fun like chocolate and parties.
Reason #3...You can be a part of history. This survey has the potential to be the first-ever comprehensive collection of XLH patients' symptoms and related conditions. (Alternatively, or in addition, if you were a patient at Shriners' Hospital, they are recruiting their "graduates" -- adults who were treated there as children -- for a follow-up study, which you can read more about here: http://xlhnetwork.org/files/9613/9931/2887/Graduate_Study_Flyer_Edited2_1.pdf)
Reason #2...You'll be helping to pave the way for better treatment for yourself, as an adult with XLH. Once there's a database correlating our symptoms with XLH, you're less likely to get weird looks from your doctor when you mention your wide array of symptoms, and you won't have to keep asking, "Is this new symptom related to my XLH?" because you'll be able to look up the answer in the published results, or refer your doctor to those results.
Reason #1....and this is really what it's all about .... you'll be helping to pave the way for better treatment for your children and grandchildren. Especially if you have minor children, and can enter their information into the survey, you'll be helping to provide much-needed information that all future pediatric patients will benefit from. The more participants there are in the study, the more the scientists can learn.
As always, the XLH Network, Inc. does not endorse or critique specific medical research, and does not counsel individual patients either for or against participation in any specific medical research. Prospective volunteers should always carefully review the medical research's informed consent documentation (which is included at the survey site), and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Reason #4...If everyone does it, I'll stop pestering you about it, and we can talk about something more fun like chocolate and parties.
Reason #3...You can be a part of history. This survey has the potential to be the first-ever comprehensive collection of XLH patients' symptoms and related conditions. (Alternatively, or in addition, if you were a patient at Shriners' Hospital, they are recruiting their "graduates" -- adults who were treated there as children -- for a follow-up study, which you can read more about here: http://xlhnetwork.org/files/9613/9931/2887/Graduate_Study_Flyer_Edited2_1.pdf)
Reason #2...You'll be helping to pave the way for better treatment for yourself, as an adult with XLH. Once there's a database correlating our symptoms with XLH, you're less likely to get weird looks from your doctor when you mention your wide array of symptoms, and you won't have to keep asking, "Is this new symptom related to my XLH?" because you'll be able to look up the answer in the published results, or refer your doctor to those results.
Reason #1....and this is really what it's all about .... you'll be helping to pave the way for better treatment for your children and grandchildren. Especially if you have minor children, and can enter their information into the survey, you'll be helping to provide much-needed information that all future pediatric patients will benefit from. The more participants there are in the study, the more the scientists can learn.
As always, the XLH Network, Inc. does not endorse or critique specific medical research, and does not counsel individual patients either for or against participation in any specific medical research. Prospective volunteers should always carefully review the medical research's informed consent documentation (which is included at the survey site), and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
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