The Justine Marie Foundation, a non-profit organization, is dedicated to raising funds for bone marrow and stem cell donor drives for Justine, and patients just like Justine, who are searching for unrelated donors. The foundation will be sponsoring a variety of fundraising events in order to host donor drives that will provide the National Marrow Donor Program, or NMDP, with more donor matches. Justine's match may be found in one of these drives. Justine has had a very good summer. She's been able to go to the beach and hang out with friends. Because she's been able to stay away from any colds or infections, her PNH symptoms have been minimal. She's now starting her senior year and thinking forward to next year and college. She's planning on visiting Towson and some other schools in the Baltimore area. Because we've been unable to locate a bone marrow donor for her yet, we are hoping that things will stay stable until Justine is 18 next April, at which time she'll be eligible to participate in a new clinical trial that is beginning this fall at Hopkins, NIH and many other locations around the country. The drug called Eculizumab is a complement inhibitor and has shown great promise in helping PNH patients with their quality of life. Eleven patients in the UK have been in a clinical trial for Eculizumab for 2 years now and have shown a marked improvement in their symptoms. Now the FDA has approved this trial for the US and the first phase will start in November. The treatment would be ongoing and it involves an approximately 45 minute IV infusion every 12-14 days. Unfortunately, because PNH is an orphan disease with so few patients, the drug will most likely never be developed in an oral medication, and the IV treatments or possibly injections would be the only administration. This sounds like a lot, going to Hopkins every other week for an IV, but if it helps as much as they're predicting, it will be worth it. The problem is you can never miss a treatment, or the complement can break through causing massive red cell destruction, which can lead to blood clots. Justine was asked to participate in a phone interview for the pharmaceutical company in which they asked her questions about her experiences with PNH and with the medications she uses. The best part was they paid her $50! They are developing a patient registry so that they can get a better idea of exactly how many people actually even have PNH in the US and other countries. Orphan diseases are not reportable, so there are only estimates at this time. This clinical trial is a very exciting development and it gives us a new hope for the future. Although Eculizumab is not a cure, if it can relieve some of the debilitating symptoms of PNH, and also eliminate the need for other medications which cause severe side effects, it will give PNH patients a much higher quality of life until a cure can be found. If you'd like to read more about Eculizumab and how it works, you can visit the pharmaceutical company's website at www.alexioninc.com. The other promising clinical trial at Hopkins is called a haplo-identical mini bone marrow transplant. This transplant involves using a half-match donor, usually a parent since each parent is a half match, or sometimes a sibling. It has only been done on one PNH patient so far. It is very new and very risky at this point, but it's promising for people who do not have a full match donor. Hopefully we will learn more about this transplant option when more PNH patients receive them.
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