We are excited to let our members know that the XLH Patient Registry and Natural History Study is coming together! A project like this is essential for providing researchers with the information they need both to ask and to answer questions about hypophosphatemic disorders.
From big picture snapshots of the XLH population of patients to more narrow questions that consider whether or not there are actual links between hypophosphatemia and other system disorders such as Chiari malformations, the Natural History Study will provide qualified researchers with instant access to the data necessary to begin their research.
In order to create a study that will be valuable to researchers, we are working with experts across the world to ensure that our questions capture the correct content and are accurately worded (no easy task!).
Dr. Yves Sabbagh (creator of the PHEX database, which contains the known genetic mutations responsible for XLH) provided insight for our genetics survey. Dr. Tom Carpenter weighed in on enthesopathy. Dr. Carolyn Macica reviewed the questions related to pregnancy and nursing.
In all, we have nine experts from four different countries providing their expertise and insight to help ensure that this project is as productive for members and their families as it can possibly be. It has been a true team effort, and we are so grateful to these doctors for donating their time and experience to this project.
The Network’s Registry and Data are part of the National Organization for Rare Disorders’(NORD) Natural History Program.We are thankful for NORD’s investment in the health and wellbeing of all rare disorder communities, including ours.
Showing posts with label Natural history. Show all posts
Showing posts with label Natural history. Show all posts
Wednesday, August 16, 2017
Wednesday, July 26, 2017
Unanswered questions
As we were starting to construct the first-ever comprehensive natural history study of XLH, we realized it was a huge challenge, because, unlike some conditions, XLH affects pretty much every system of the body.
Scientists divide the human body into ten systems: 1) cardiovascular, 2) digestive, 3) endocrine, 4) integumentary/exocrine, 5) lymphatic/immune, 6) musculo-skeletal, 7) nervous, 8) renal/urinary, 9) reproductive, 10) respiratory.
It's immediately obvious that the endocrine, musculo-skeletal and renal (kidney) systems are relevant to XLH. The endocrine system regulates phosphorus and FGF23, muscle function and skeleton structure are adversely affected by elevated FGF23 and low phosphorus, and the kidneys are where the phosphate wasting occurs. Some digestive issues have been reported with phosphorus supplements. Some XLHers have nerve involvement as a secondary effect, when calcification impinges on nerves or when the patient has a Chiari malformation or syringomyelia (both of which may or may not be related to XLH).
What about the other, less obviously affected body systems? Wouldn't it be good to know if there's any correlation between XLH and an increased (or decreased!) risk of heart disease or elevated blood pressure? Between XLH and lung conditions? Between XLH and infertility? Or, more generally, and crossing a variety of systems: is there any correlation between XLH and an increased/decreased incidence in various forms of cancer? And what about pain and its treatment: what's the nature/extent of the pain, what's being prescribed and what, if anything, is most likely to be effective?
No one has those answers, in part because the questions have never been asked in a rigorously scientific manner. But we're hoping to change that soon!
The Network’s Registry and Data are part of the National Organization for Rare Disorders’(NORD) Natural History Program.We are thankful for NORD’s investment in the health and wellbeing of all rare disorder communities, including ours.
Scientists divide the human body into ten systems: 1) cardiovascular, 2) digestive, 3) endocrine, 4) integumentary/exocrine, 5) lymphatic/immune, 6) musculo-skeletal, 7) nervous, 8) renal/urinary, 9) reproductive, 10) respiratory.
It's immediately obvious that the endocrine, musculo-skeletal and renal (kidney) systems are relevant to XLH. The endocrine system regulates phosphorus and FGF23, muscle function and skeleton structure are adversely affected by elevated FGF23 and low phosphorus, and the kidneys are where the phosphate wasting occurs. Some digestive issues have been reported with phosphorus supplements. Some XLHers have nerve involvement as a secondary effect, when calcification impinges on nerves or when the patient has a Chiari malformation or syringomyelia (both of which may or may not be related to XLH).
What about the other, less obviously affected body systems? Wouldn't it be good to know if there's any correlation between XLH and an increased (or decreased!) risk of heart disease or elevated blood pressure? Between XLH and lung conditions? Between XLH and infertility? Or, more generally, and crossing a variety of systems: is there any correlation between XLH and an increased/decreased incidence in various forms of cancer? And what about pain and its treatment: what's the nature/extent of the pain, what's being prescribed and what, if anything, is most likely to be effective?
No one has those answers, in part because the questions have never been asked in a rigorously scientific manner. But we're hoping to change that soon!
The Network’s Registry and Data are part of the National Organization for Rare Disorders’(NORD) Natural History Program.We are thankful for NORD’s investment in the health and wellbeing of all rare disorder communities, including ours.
Wednesday, June 15, 2016
PHEX mutations database
As we're gearing up to launch our natural history study platform in conjunction with the National Organization for Rare Disorders (NORD), which you can read about here (http://thexlhnetwork.blogspot.com/2016/04/major-new-initiative.html), we're thinking about the various pieces of information that it might be useful to collect.
One of those pieces of information is the exact mutation that caused a patient's phosphate wasting. To date, no one has been able to say for sure whether there is any correlation between the specific mutation and the nature/severity of a patient's symptoms. That's certainly something that both patients and clinicians would love to know for sure, though.
Not everyone gets genetic testing, since it can be expensive and not always covered by insurance, but did you know that there's a database of these mutations?
There's a site, maintained by Yves Sabbagh, PhD, that collects these mutations. He explains, "The PHEXdb is a database that collects and makes available all the known mutations that have been identified in the PHEX gene which is associated with the rare disease X-linked hyphosphatemia, the most common form of
inherited/genetic rickets. PHEXdb provides a search engine to query for a
specific mutation and also provides a submission form for people who
would like to submit mutations to the database."
If you know your (or your child's) mutation, and it's not in the database, he'd love to hear from you, and you'd be added to the body of data about XLH. You can submit your mutation here: http://www.phexdb.mcgill.ca/
One of those pieces of information is the exact mutation that caused a patient's phosphate wasting. To date, no one has been able to say for sure whether there is any correlation between the specific mutation and the nature/severity of a patient's symptoms. That's certainly something that both patients and clinicians would love to know for sure, though.
Not everyone gets genetic testing, since it can be expensive and not always covered by insurance, but did you know that there's a database of these mutations?
There's a site, maintained by Yves Sabbagh, PhD, that collects these mutations. He explains, "The PHEXdb is a database that collects and makes available all the known mutations that have been identified in the PHEX gene which is associated with the rare disease X-linked hyphosphatemia, the most common form of
inherited/genetic rickets. PHEXdb provides a search engine to query for a
specific mutation and also provides a submission form for people who
would like to submit mutations to the database."
If you know your (or your child's) mutation, and it's not in the database, he'd love to hear from you, and you'd be added to the body of data about XLH. You can submit your mutation here: http://www.phexdb.mcgill.ca/
Wednesday, April 20, 2016
Major new initiative
The XLH Network, Inc. has been awarded a grant to establish a Registry and Natural History Study in collaboration with the National Organization for Rare Disorders and the U.S. Food and Drug Administration. You can read the official NORD press release here: http://rarediseases.org/nord-announces-20-rare-disease-patient-groups-selected-to-develop-natural-history-studies-as-part-of-fda-cooperative-agreement/
The importance of this type of study cannot be emphasized enough. The "natural history" of a disorder is its progression, from inception to resolution. XLH, like many rare disorders, has never been the subject of a rigorous natural history study, so there is a great deal of uncertainty, particularly about the symptoms in adults, but also with many aspects of childhood treatment. The lack of scientific data makes it difficult for both patients and doctors to make informed decisions about treatment.
This grant will provide us with a customizable, expandable framework to begin gathering the data that researchers and health care providers can use to improve the treatment of XLH patients world-wide.
This is a long-term project and a demanding one, in terms of both human and financial resources. The Network has begun gathering these resources to undertake the work, thanks to the leadership of my predecessor and the many contributions of the board of directors, the scientific advisory board, and our other generous volunteers and donors.
Still, there is a great deal of work to be done and money to be raised to pay for this new and game-changing project. We could use your support now, more than ever. If you'd like to make a donation, the information you'll need is here: http://xlhnetwork.org/index.php/donate/.
The importance of this type of study cannot be emphasized enough. The "natural history" of a disorder is its progression, from inception to resolution. XLH, like many rare disorders, has never been the subject of a rigorous natural history study, so there is a great deal of uncertainty, particularly about the symptoms in adults, but also with many aspects of childhood treatment. The lack of scientific data makes it difficult for both patients and doctors to make informed decisions about treatment.
This grant will provide us with a customizable, expandable framework to begin gathering the data that researchers and health care providers can use to improve the treatment of XLH patients world-wide.
This is a long-term project and a demanding one, in terms of both human and financial resources. The Network has begun gathering these resources to undertake the work, thanks to the leadership of my predecessor and the many contributions of the board of directors, the scientific advisory board, and our other generous volunteers and donors.
Still, there is a great deal of work to be done and money to be raised to pay for this new and game-changing project. We could use your support now, more than ever. If you'd like to make a donation, the information you'll need is here: http://xlhnetwork.org/index.php/donate/.
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