Wednesday, July 29, 2015

Rare Diseases International

The XLH Network, Inc. has always had a global focus, with members from all over the world. It's challenging, though, especially when it comes to fundraising and the lack of uniform international laws with respect to medical treatments and how those treatments are approved or paid for. We think it's worth dealing with those challenges, since the rareness of XLH means there are relatively few XLH patients, and we need our combined strength to make sure all patients have the most up-to-date information about XLH and access to the broadest support possible from other XLHers.

Other organizations tend to have a more limited geographic focus. NORD (National Organization for Rare Disorders,, for instance, solves the problem of too-small numbers by combining a wide variety of rare disorders and works on the issues that they have in common within the United States.

The Network is a long-time member of NORD and supportive of its work. In return, we benefit too. Anyone who is looking for information on XLH at NORD's website, can put that term into its search box, and will get contact information for the Network. That search also generates a page on Familial Hypophosphatemia that our SAB member, Thomas O. Carpenter, M.D. helped put together, with the basic information about XLH. You can find it here:

The only thing missing from NORD's excellent work until recently was that it was limited to addressing issues within the United States. In late May of this year, NORD expanded its reach by joining with EURORDIS (similar to NORD, but for Europe) and patient representatives from thirty countries to create Rare Diseases International (RDI). The mission of RDI is to "represent patients and families of all nationalities across all rare diseases. It will be the voice of all people living with a rare disease around the world today and will work to give visibility to rare diseases in the global health agenda." NORD will be working toward those common goals as the RDI representative for U.S. patients.

You can read the entire press release here:

You can read more about RDI (its vision, objectives, history, etc.) here:

Wednesday, July 22, 2015

Why donate appreciated stock

You may recall that last year we announced that the XLH Network is now set up to receive donations of appreciated securities (stock). Perhaps you're already more financially savvy than most, and understand why that can be a useful financial planning tool, but for the rest of us, we've got a bit of explanation.

Why Making a Gift of Appreciated Securities Makes Sense. In making a gift of appreciated securities, such as stocks, bonds or mutual fund shares, donors can make sizable contributions to the XLH Network and simultaneously derive practical financial advantages. Donors who have experienced growth in their investments are in an excellent position to donate appreciated securities.

How It Works to Your Advantage. Let’s say that 10 years ago, you purchased $500 worth of stock, which has a value today of $5,000. If you choose to sell the holding in your account, you will be responsible for paying tax on the $4,500 capital gain. However, if you are inclined to make a charitable gift, you can transfer the security outright to a charitable organization, rather than selling the security first, triggering the tax, and then contributing the cash. By gifting the security, you will avoid the capital gains tax and will have made a generous contribution to the charitable organization. You will, of course, also receive an income tax deduction based on the mean price of the security on the date of the gift.

How It Works at the XLH Network. Giving appreciated securities is easy! First, it is important that you contact Geoff Edelson, Treasurer, at to inform us of your intention to give securities. Then, electronically transfer shares into the Network’s account:
First Clearing, LLC
DTC #: 0141
Account Name: The XLH Network, Inc.
Account #: 7948-5790
Contact:      Chris Inman
Inman Wealth Management
Wells Fargo Financial Network
140 Mayfair Rd., Suite 400
Hattiesburg, MS  39402
Tel:  601-602-3571
Fax:  601-602-3867

Wednesday, July 15, 2015

Youtube channel for the Network!

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):

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):

Thursday, July 9, 2015

FDA procedures for new medical treatments

There's been some discussion among Network members about the drug approval process, as KRN23 is entering Phase 3 clinical trials, and you may be wondering just what is involved and how long it takes.

In extremely simplified form, the process in the United States (each country has different rules, but they're likely to be similar) involves negotiations between the applicant (in the case of KRN23, that would be Ultragenyx Pharmaceutical) and the Federal Drug Administration (FDA).

The first step (long since completed in the case of KRN23) is to do some initial laboratory testing (NOT on humans) to determine whether the product is likely to be toxic or not.

If the initial results are encouraging, the next step is to apply to the FDA for an Investigational New Drug exemption from the law that prohibits testing on humans by offering data that suggests it's reasonable to believe it's safe.

If the FDA believes that testing in humans is reasonably likely to be safe, then the applicant can proceed with the third step, which is to design the Phase 1 testing. Before each of the clinical trial phases, the applicant will be discussing the study design and protocol (exactly how the study will be carried out) with the FDA to increase the likelihood that the results will satisfy the FDA later in the process.

Once the study is designed and a protocal established, the applicant must obtain Institutional Review Board (IRB) approval. An IRB is an independent group of experts who review of the existing data to data to make a preliminary recommendation with respect to proceeding with testing on humans.

Phase 1 clinical trials are generally small (less than 100 patients), often healthy patients (not having the condition being tested) and are solely to determine toxicity. Approximately thirty percent of tested drugs fail at this point. KRN23 successfully completed this Phase several years ago.

If the Phase 1 testing suggests that the drug is reasonably safe, then Phase 2 can begin, again after discussing the study design and protocols with the FDA and another IRB review. This is a broader trial, both in terms of how many people are enrolled (although it's still a relatively small number) and in terms of what is being studied. In addition to safety, researchers are considering whether the drug actually works. Approximately sixty percent of tested drugs fail at this point. KRN23, however, had encouraging data at this phase, and is moving on to the next step.

Phase 3 clinical trials are the broadest and most complicated trials. Again, they're designed by the applicant, with feedback from the FDA. Significantly more patients are needed for these trials. KRN23 is currently in Phase 2B, with patients who previously volunteered in Phase 2. When Phase 3 begins later in 2015, it will be open to anyone meeting the eligibility requirements. On average, Phase 3 trials last from one to three years. Getting sufficient volunteers who are eligible for the study can be a challenge for rare diseases like XLH and can delay completion of the trials. Note that another thirty percent of tested drugs fail at this point. We're hopeful that won't be the case for KRN23, however!

Finally, upon satisfactory completion of the Phase 3 trials, the applicant files a New Drug Application with the FDA, with analysis of the data from the clinical trials and a draft of the label (the printed information you get when the prescription is filled), and the FDA undertakes its review. Only about fourteen percent of drugs fail to get approval at this stage.

There are two levels of priority for review, which determines the timeframe. The standard period is twelve months from filing the New Drug Application (after the Phase 3 trials) to a decision by the FDA. Note that a "decision" may consist of a request for more information, so it's not a guarantee that the matter will be resolved in that timeframe. There's also a priority review period that's slightly faster, at eight months, for treatments for conditions that have no alternative therapy. It's possible that KRN23 will qualify for that expedited review, since the existing treatments manage symptoms rather than getting to the root of the condition.

Once the FDA has reviewed the New Drug Application and made a final decision with respect to the right to market the drug and the exact wording of the label, the drug can be marketed. The FDA may require an additional set of clinical trials, however, called Phase 4. These are intended to resolve any remaining questions the FDA may have, and are common where there are issues relating to symptoms or clinical outcomes that may take ten or more years to get answers for. This testing, however, does not stop the marketing of the product, except in the event of serious unexpected side-effects being reported.

Tuesday, July 7, 2015

Administrative Assistant

The Network is hiring its first-ever employee (part-time, virtual administrative assistant), thanks to the generous financial assistance of Ultragenyx Pharmaceutical.

If you're interested in applying, or know someone with the right skill set, the details are at the link below. We will accept applications through July 24th.

Wednesday, July 1, 2015

21st Century Cures Initiative

The U.S. House of Representatives' Energy and Commerce Committee recently unanimously approved the 21st Century Cures Initiative, a bipartisan effort "to modernize and personalize health care, encourage greater innovation, support research, and streamline the system to deliver better, faster cures to more patients." You can read the press release here:

This is just one step -- an important one, though -- before this legislation can be enacted. Rare disease advocacy groups have been active in supporting it. You can read the official letters from Global Genes here:
and here:

NORD (National Organization for Rare Disorders) issued a statement on the committee's vote, which you can read here:

NORD has also sent a letter to the leadership of Congress, expressing its support of the Initiative. The XLH Network, along with over two hundred other similar organizations for other medical conditions, have co-signed the letter.

Stay tuned for more information as the bill continues through Congress.