Wednesday, September 30, 2015

Patient engagement

"Patient engagement" is the hot buzzword in the medical science community these days. It refers to the revolutionary idea that patients ought to be consulted during the process of drug research, development and approval. Not just studied like lab rats, but talked to and asked about their issues that go beyond their x-rays and blood test results.

We're in the early days now of figuring out how to fold patient engagement into existing processes, both scientific and regulatory. As a result, it's a bit of a wild, undefined frontier for all the parties involved: patients, patient groups, researchers, drug developers and governmental agencies. The one thing we do know, however, is that we can't just take anecdotes to the researchers and drug developers and clinicians and regulators. Those anecdotes have to be turned into scientifically sound data, using scientifically sound models and methodologies. Which is even more complicated than it sounds.

Fortunately, there are several organizations working on the various challenges. Recently, Network board members attended events that addressed these challenges. The EveryLife Foundation For Rare Diseases (a nonprofit dedicated to "accelerating biotech innovation for rare disease treatments through science-driven public policy," founded by Emil D. Kakkis, M.D., who is also the CEO of Ultragenyx Pharmaceutical, which in turn is the U.S. developer of KRN23) held a workshop on "Incorporating the Patient Perspective in Rare Disease Drug Development." You can see an overview and find a link to a proposed framework for incorporating the patient's voice into drug development here:

The National Health Council (an umbrella organization that works to be the voice of "more than 133 million Americans [who] live with a chronic disease or disability") recently released a white paper at an event, in collaboration with Global Genes and a variety of other important stakeholders, on "Advancing Meaningful Patient Engagement in Research, Development and Review of Drugs." You can read it, and gain a better understanding of how much work still needs to be done before patients' voices can be heard, here:

And most recently, Network president Becky Mock attended the annual Patient Advocacy Summit hosted by Global Genes. You can see from the agenda (available here: ) that Patient Engagement was, either directly or indirectly, a key element in all of the topics discussed. If you're interested in seeing just how big a challenge patient support groups face, the speech by Pat Furlong, founder of Parent Project, Muscular Dystrophy is both inspiring and educational (and it will probably make you cry too). That video should be available soon, and we'll post the link when it is.

There's a lot of work to do, and the Network Board is diligently gathering information and making plans to move forward. The rules and procedures aren't really in place yet for effective patient engagement, but the Board will be monitoring the situation, educating ourselves on methodologies/guidelines for reducing anecdotes to usable data, and preparing for the right moment to take the next step, once the procedures are in place.

What you can do: 1) educate yourself by reading the information in the links we've provided; 2) participate in credible research studies that seek patient input, like the Burden of Illness survey ( ),  and 3) consider making a donation to the Network ( ), so we'll have the funds, once the rules and procedures and methodologies are in place to contract our own patient preference research. (And if you can't afford to make a direct donation, consider enrolling in a program like Amazon Smile, , which won't cost you anything, but will benefit the Network whenever you buy things you'd be buying anyway.)

Wednesday, September 23, 2015

Catching up

There's been so much happening lately, and some topics have been piling up, so here's some short snippets of information to get us all caught up.

First, there's an online survey for research at the University of Rochester (New York) on "Understanding and overcoming obstacles to participation in clinical research for patients with rare diseases." If  you'd like to share your thoughts on the issue, you can complete the survey here:

For new members who haven't heard about it yet, if you'd like to share your thoughts and experiences on research that's more specific to XLH, you can do the Burden of Illness survey here: Note that it's now available in a variety of languages: English, French, Portuguese and several versions of Spanish.

And finally, a reminder that the Global Genes Patient Advocacy Summit is happening tomorrow and Friday. If you'd like to watch the livestream to better understand what you can do to advocate for yourself, and what the Network's board is doing on your behalf, you can register here: Our president, Becky Mock, will be attending the summit, and we hope to have some pictures at our official Facebook page,

One of the speakers is Pat Furlong, the CEO of Parent Project Muscular Dystrophy (Thursday, 9 a.m. California time, noon Eastern time), and I (Gin Jones) can tell you she's amazingly inspiring. She spoke at a workshop I attended last week, and I'm still thinking about some of the things she said, like how patient advocates need to find innovative ways to "quantify the patients'/caretakers' tears," putting the suffering into a format that researchers and funders and the FDA can understand.

Wednesday, September 16, 2015

Additional KRN23 adult trial

In addition to the Phase 3 clinical trials of KRN23 that we mentioned previously (starting in October, not yet recruiting), there's another, smaller study that will begin in November (also not yet recruiting). You can read about it here:

This study is for XLHers who have NOT been on the standard treatment regimen at any time during the past two years. This study will consist of approximately ten patients, and will involve bone biopsies rather than blood and urine samples. The intent is to study the effects on the bone directly, rather than indirectly (using blood tests as a proxy for what is happening to the bones).

If you're interested in participating, be sure to read the information at the link above, and watch for an announcement (here, on the listserv and at the official Facebook page) that recruiting has begun.

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.

Wednesday, September 9, 2015


While the Network is narrowly focused on a single rare disease, other worthy organizations take a step back to focus on the broader picture. Two such groups are in the news this month for their efforts to raise public awareness.

First, Global Genes works "to raise awareness for the over 7,000 different identified rare diseases that affect roughly 30 million Americans and approximately 350 million people worldwide." As part of that mission, on September 24th and 25th, Global Genes will be holding its fourth annual RARE Patient Advocacy Summit in California. On behalf of the Network's members, our President, Becky Mock, will attend both the Summit and the Tribute to Champions of Hope Gala on the 26th. You can read more about the Summit and the Gala here:

The second organization in the news this month is the American Chronic Pain Association, which works year-round to raise awareness of chronic pain, an issue of concern to many XLHers. The ACPA's work is particularly noteworthy in September, since it's been designated "Pain Awareness Month." You can read more about this designation and also find useful links to information about pain treatment options here:

Wednesday, September 2, 2015

The patient's perspective on clinical trials

In light of the upcoming Phase 3 trials for KRN23, we've been talking to some XLHers who have participated in a variety of clinical trials in the past, so we can share a bit about the experience generally. These comments are not specific to the KRN23 trials, but are just meant to shed some light on an experience that most people are unfamiliar with.

Today's insights, the first in a series on this topic, are from a male in his fifties, who lives in the southeast.

1. How and why did you decide to participate in the trial?

I decided to participate in the trials due to my health concerns and those of my children. I wasn't sure if I could get any relief for my self but wanted to participate with the hope that it would benefit those who are younger and still have a lot of living to do. If I could help them relieve some of their issues thru the trials then I was all for it.

2. Was there anyone in particular who helped you decide whether to participate or to cope with any challenges? 

Family and a fellow XLHer.

3. What do you know now that you wish you'd known before participating in your first trial?

The trials I have participated in have been well explained and there really wasn't any hidden info or circumstances. So really nothing.

4. Anything else you want to share with the Network's members?

I know people have different varying conditions of hypophosphatemia and everyone will feel different on trial medications, but my thought on the whole trial study is if you or I could help the next generations with this disease then why shouldn't we? It may not help us now but our children, their children, and generations down the line may benefit from something we help accomplish.

Disclaimer: 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.