Tumor Induced Osteomalacia is an ultrare condition where a tumor excretes excessive amounts of FGF23, which in turn causes phosphate wasting. It's essentially a tumor-caused (instead of genetically caused) version of hypophosphatemia.
For many patients with TIO, removal of the tumor stops the phosphate-wasting. Unfortunately, however, the tumors are difficult to find and may be located in places where surgery cannot completely remove the tumor. In those cases, the patient may need non-surgical treatment to normalize the phosphorus levels.
There's at least one Phase 2 clinical trial under way to see if the new treatment for XLH (KRN23/burosumab) will also treat patients with TIO, and results will likely be available later in 2017. The study is no longer recruiting, but you can read about it here: https://clinicaltrials.gov/ct2/show/NCT02304367?term=tio&rank=1
A separate, completed study investigated whether an existing treatment, Octeotride, might be used for TIO, but the researchers concluded that it was not effective. You can read about it here: http://onlinelibrary.wiley.com/doi/10.1002/jbmr.3162/full?utm_source=ASBMR%20Feb2017%20e-News%20List&utm_campaign=84cbceefb5-EMAIL_CAMPAIGN_2017_05_04&utm_medium=email&utm_term=0_c35b5c9b70-84cbceefb5-182507117
Showing posts with label research study. Show all posts
Showing posts with label research study. Show all posts
Wednesday, May 31, 2017
Thursday, February 2, 2017
Last chance: joint replacement survey
There's just a little over a week left until the online survey about XLHers' experiences with hip or knee replacement will close (Feb. 10th). If you've been meaning to do it, now's the time! And note that you CAN participate in this survey even if you're in a clinical trial.
Here's the link:
The survey consists of an online questionnaire for men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement. Compensation is offered by way of a Starbucks gift card.
The researchers have already received some good information that will help to educate clinicians about joint replacements for XLHers, but with just a few more, they'll reach their participation goal and maximize the usefulness of their data.
As always, we encourage you to do your due diligence before participating in a research study. The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members. For more information on research participation, check out https://www.hhs.gov/ohrp/education-and-outreach/about-research-participation/index.html
Wednesday, April 22, 2015
Notes from a guinea pig
Ever wonder what it's like to be a guinea pig? A few XLHers had the chance to find out a few weeks ago, when I volunteered for the Gait, Mobility and Range of Motion study led by SAB chair, Carolyn M. Macica, PhD at Quinnipiac University's Frank H. Netter MD School of Medicine.
The results of the study won't be available for a while, since the researchers need to crunch all the data and study the information. But the results should offer some basic information for understanding adult issues related to XLH and the various services (physical therapy or occupational therapy) that might be of use for professionals who can help improve our quality of life.
As described in the call for volunteers, the study had five pieces: diagnostic imaging, biomechanical data, a physical therapy work-up and an occupational therapy work-up. There were four volunteers the day I went, and we all agreed that the diagnostic imaging (x-rays, in particular) was the most challenging for us. X-ray beds are NOT designed to lie on for more than a couple minutes, and we were getting full-body x-rays, not just one or two quick images. All of us also agreed that it was worth the discomfort to make this information available to scientists who were genuinely interested in our issues.
The biomechanical lab was the most interesting, simply because it was something I'd never experienced before. It was similar to what is done to create video game characters, where an actor has sensors attached to his joints, and then he goes through a range of motions while cameras pick up the movement of those sensors. The computer can then create a figure on the screen, using the data from the sensors. They did essentially the same thing with the XLH adults in the place of the actors. Sensors were attached to our wrists, elbows, shoulders, spine, hips, knees and feet. Then we went through a series of normal, everyday movements (walking, standing after sitting, moving the knee, moving hands, etc.) while they were recorded.
We also spent an hour each with a social worker, answering questions about our experiences with XLH and how the condition affected us emotionally. And finally, there was a session with an occupational therapist, which involves more than just job-related issues, but also hobbies and basic things like being able to get dressed and take care of daily hygiene. I found it interesting that there's a trend toward asking the patients what WE care about getting done, instead of assuming that everyone wants the same help. For example, one person might care a lot about keeping her house clean (not me!) while another may not care if she can sweep and mop, as long as she can pursue a hobby she's passionate about, so the focus would be on what assistance might enable the pursuit of that hobby, rather than the assistance that would help with sweeping and mopping.
All in all, it was a fascinating experience, and so heartwarming. Patients with a rare condition can get a little cynical after dealing with doctors who, not entirely surprisingly, have never heard of XLH, don't quite know what to do with us and are too busy to really find out. The scientists we worked with -- and I heard this from the other volunteers too, so it wasn't just my impression -- were obviously interested in what we had to say, very grateful for our willingness to share our experiences and our physical data with them despite the discomfort it caused us, and incredibly understanding about our physical (and emotional) limits when we were simply unable to do some portion of the study.
The data-collection part of this study is over, but I encourage everyone to watch for future studies and consider participating in one. It's important work, and it can help the participants too, giving some relief, at least briefly, from the feeling that we're helpless in dealing with this disease.
Alternatively, if you haven't done it already, the Burden of Illness study sponsored by Ultragenyx Pharmaceutical, and which doesn't require you to do anything more than sit at your computer and answer a bunch of questions (in English or French), is still collecting data. You can find it here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
The results of the study won't be available for a while, since the researchers need to crunch all the data and study the information. But the results should offer some basic information for understanding adult issues related to XLH and the various services (physical therapy or occupational therapy) that might be of use for professionals who can help improve our quality of life.
As described in the call for volunteers, the study had five pieces: diagnostic imaging, biomechanical data, a physical therapy work-up and an occupational therapy work-up. There were four volunteers the day I went, and we all agreed that the diagnostic imaging (x-rays, in particular) was the most challenging for us. X-ray beds are NOT designed to lie on for more than a couple minutes, and we were getting full-body x-rays, not just one or two quick images. All of us also agreed that it was worth the discomfort to make this information available to scientists who were genuinely interested in our issues.
The biomechanical lab was the most interesting, simply because it was something I'd never experienced before. It was similar to what is done to create video game characters, where an actor has sensors attached to his joints, and then he goes through a range of motions while cameras pick up the movement of those sensors. The computer can then create a figure on the screen, using the data from the sensors. They did essentially the same thing with the XLH adults in the place of the actors. Sensors were attached to our wrists, elbows, shoulders, spine, hips, knees and feet. Then we went through a series of normal, everyday movements (walking, standing after sitting, moving the knee, moving hands, etc.) while they were recorded.
We also spent an hour each with a social worker, answering questions about our experiences with XLH and how the condition affected us emotionally. And finally, there was a session with an occupational therapist, which involves more than just job-related issues, but also hobbies and basic things like being able to get dressed and take care of daily hygiene. I found it interesting that there's a trend toward asking the patients what WE care about getting done, instead of assuming that everyone wants the same help. For example, one person might care a lot about keeping her house clean (not me!) while another may not care if she can sweep and mop, as long as she can pursue a hobby she's passionate about, so the focus would be on what assistance might enable the pursuit of that hobby, rather than the assistance that would help with sweeping and mopping.
All in all, it was a fascinating experience, and so heartwarming. Patients with a rare condition can get a little cynical after dealing with doctors who, not entirely surprisingly, have never heard of XLH, don't quite know what to do with us and are too busy to really find out. The scientists we worked with -- and I heard this from the other volunteers too, so it wasn't just my impression -- were obviously interested in what we had to say, very grateful for our willingness to share our experiences and our physical data with them despite the discomfort it caused us, and incredibly understanding about our physical (and emotional) limits when we were simply unable to do some portion of the study.
The data-collection part of this study is over, but I encourage everyone to watch for future studies and consider participating in one. It's important work, and it can help the participants too, giving some relief, at least briefly, from the feeling that we're helpless in dealing with this disease.
Alternatively, if you haven't done it already, the Burden of Illness study sponsored by Ultragenyx Pharmaceutical, and which doesn't require you to do anything more than sit at your computer and answer a bunch of questions (in English or French), is still collecting data. You can find it here: https://www.amihealthy.com/custom/ultragenyx/burdenofillness/burdenofillnesshome.aspx?SITE=XLHNETWORK
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 15, 2014
Study of Mobility, Gait, ROM & QOL
Our Scientific Advisory Board chair, Dr. Carolyn Macica, is the lead investigator in a new research study of XLH patients, looking into mobility, gait and range of motion issues. She's looking for adult volunteers with XLH.
Here's the official announcement, sent to us by Dr. Macica:
AND A FINAL NOTE FROM THE XLH NETWORK: 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 research study's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Here's the official announcement, sent to us by Dr. Macica:
Study of Mobility, Gait, Range-of-Motion and Quality of Life in Patients
with X-linked Hypophosphatemia
We are seeking 40-65 year old men
and women with X-linked Hypophosphatemia (XLH) to participate in a research
study at Quinnipiac University (Frank H. Netter School of Medicine, North
Haven, CT). The purpose of this study is to learn more about the impact of XLH
on the daily life and activities of adults with XLH. Using the information we
learn from this study, we expect to gain a better understanding of the
day-to-day challenges facing adults with XLH and, ultimately, hope to develop evidence-based
strategies that lessen the burden or even help overcome these challenges.
STEP 1: To see if
you are eligible for this study, you will be asked to answer several questions
about your XLH and physical activity.
STEP 2: The study
team will review your answers (consisting of Dr. Macica, a radiologist, physical
therapists, an occupational therapist, and a social worker). If you are deemed
eligible, they will invite you to participate in the study.
STEP 3: If you
choose to participate, you will be asked to come to the Netter School of
Medicine in North Haven, Connecticut and will undergo:
i) an x-ray to assess your bone
and joint health; ii) measurements of your arm and leg muscle strength, and of
your joint range of motion; iii) measurements of the way you walk, your
posture, and your balance in the Motion Analysis Lab at Quinnipiac University;
and iv) completion of survey materials and a one hour in-person interview and to
assess your well-being as it relates to the impact of XLH on your day-to-day
activities.
The study does not involve the
use of needles or invasive procedures, and all aspects of it can be completed
in about 4-5 hours during a single visit. Selected students, who are training
in the health professions, will also observe and participate in the study as part
of their academic experience and to learn more about rare bone disorders.
Cost of travel and lodging will
be covered for patients who qualify for this study. As a token of our
appreciation, eligible participants who complete the study will also receive a
$50 payment using a generous donation from the The XLH Network, Inc.
This study will also include an additional
online survey for individuals 18 and older, to better understand the experience
of living with XLH as an adult, and the transition to adulthood and
adult-oriented care for those diagnosed in childhood.
Study HIC#: 5414
Principal Investigator: Dr. Carolyn M. Macica
Patient coordinator: Erika J. Parisa
Contact information: XLHstudy@quinnipiac.edu
AND A FINAL NOTE FROM THE XLH NETWORK: 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 research study'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.
Friday, June 20, 2014
Burden of illness study for XLH patients
Ultragenyx Pharmaceutical, Inc. is sponsoring a research study to better understand how XLH impacts the lives of affected children and adults. The study consists of an online survey that asks questions about your experience with XLH, including how it was diagnosed, what symptoms and complications you (or your child) have experienced, how the disease has been managed and how these events affect your daily life. Anyone interested in participating can follow the link below to learn more about the study.
Burden of illness study
The XLH Network, Inc. does not endorse or critique specific research, and does not counsel individual patients either for or against participation in any specific research project. Prospective volunteers should always carefully review the project's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Burden of illness study
The XLH Network, Inc. does not endorse or critique specific research, and does not counsel individual patients either for or against participation in any specific research project. Prospective volunteers should always carefully review the project's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.
Wednesday, May 7, 2014
Follow up study of adult XLHers
If your XLH was treated at the St. Louis Shriners Hospital when you were a child, or you know anyone who was treated there, Dr. Whyte is looking for former patients, who are at least 21 years old now, to return to the facility for a research study.
The details, along with contact information, are available at our website, here. (If the link doesn't work for you, go to the XLH Network's website, and then, under the "What is XLH" tab, there's a link to "clinical trials," and if you click on that, you'll see a listing for "Shriners Hospital for Children - A study to learn about XLH and HPP during adult life." There's a link under there to the PDF with the official information.)
The XLH Network, Inc. does not endorse or critique specific research studies, and does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.
The details, along with contact information, are available at our website, here. (If the link doesn't work for you, go to the XLH Network's website, and then, under the "What is XLH" tab, there's a link to "clinical trials," and if you click on that, you'll see a listing for "Shriners Hospital for Children - A study to learn about XLH and HPP during adult life." There's a link under there to the PDF with the official information.)
The XLH Network, Inc. does not endorse or critique specific research studies, and does not counsel individual patients either for or against participation in any specific research study. Prospective volunteers should always carefully review the research study's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members.
Wednesday, March 19, 2014
Meet Board Director, Ollie Gardiner
This is the first in a series of interviews of the people who are working on behalf of the members of the XLH Network, Inc., either as officers/directors or as scientific advisors.
Today, I'd like you to meet Oliver (Ollie) Gardiner. He is originally from Oxford, and now resides in London, UK. He is a professional video editor, working in design and website design. He has extensively exhibited work as an artist around the world.
Between his day job and his work for the XLH Network, Ollie's a busy guy (and so are you), so we're keeping the interview brief, with just three questions:
Today, I'd like you to meet Oliver (Ollie) Gardiner. He is originally from Oxford, and now resides in London, UK. He is a professional video editor, working in design and website design. He has extensively exhibited work as an artist around the world.
Between his day job and his work for the XLH Network, Ollie's a busy guy (and so are you), so we're keeping the interview brief, with just three questions:
1. How did you get involved with the XLH Network, and then become a member of its Board of Directors?
XLH is well rooted into our family, inherent in twelve family members spanning through four generations. As I've seen the many faces of XLH, my involvement in the XLH Network stems after finding out that some XLHers may never meet another. As I’ve found my family to be most important as we go through treatment, I could see there was a clear opportunity to help more people connect with one another.
2. What is your "super power" -- the special skill, knowledge or experience that you bring to the Board?
I think I would prefer to be a superhero like Batman, who doesn't have superpowers per se, but who relies on his intelligence and use of the right tools to get the job done.
3. What XLH-related project are you working on now that you're particularly enthusiastic about?
I'm working with the University of Oxford as lead patient for the XLH community in the UK as they've recently been awarded funding to establish a new study, known as the "Rare UK bone, joint and blood vessel Disease study (RUDy)." With the introduction of new treatments this study will become ever more paramount in our global community. As these are the early stages of the study, stay tuned for more information. 2014 is an exciting year for us all.
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