The lead article in the April 28, 2011 New England Journal of Medicine reported on the first drug treatment that slows progression for LAM, a rare and devastating lung disease of young women that causes death in about 10 years after first symptoms. Before now, those who suffered from LAM (lymphangioleiomyomatosis) had little cause for hope. In addition to bringing forward a treatment for this disease, the LAM "MILES" trial is impressive because it took a relatively short time (4 years) to get this definitive 2-year Phase 3 trial done. To put it into perspective, LAM is more rare than HD, and has far fewer academic care and research centers than HD.
Why was LAM recruiting so efficient? Patient registries. It can work for HD too -- but only if we sign up.
LAM Numbers: About 100 LAM patients from the U.S. and Japan were enrolled in the MILES trial [McCormack FX 2011]. There is only an estimated 1000-2000 LAM patients in these combined areas. Further, only a fraction of the total number of LAM patients could be enrolled because only those with moderate disease were included. Making the assumption that 30% of the total number of LAM patients fit criteria for the trial would mean that 15-30% of all patients eligible for the trial joined it and traveled to one of only 13 centers. This is a remarkable number for a limited set of centers. How was this possible? Their success story couldn't have happened so quickly without the power of registries.
LAM Registries: The LAM National Registry, begun in 1998 and supported by the National Institutes of Health started enrolling patients in 6 centers then available in the U.S. [Tattersfield AE 2006]. Subsequently, the LAM Foundation, a volunteer patient and family organization, created a web-based registry that disperses clinical research information and provides the specifics for reaching centers. In an NPR interview of the LAM Foundation founder in 2010, 1200 patients were signed on to this registry.
These two registries contributed to MILES trial recruiting success for this rare disease. In a more far reaching effort for the future, an International LAM Registry was launched [Nurok M 2010]. This registry combines the strengths of earlier registries and extends the geographic reach in a web-based platform that is driven by the entire LAM community of researchers, clinicians and patients worldwide.
Why bother with this example? Loud and clear, it shows us what Enroll-HD can do for Huntington's -- but only if we sign up.
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP 3rd, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee HS, Krischer JP, Trapnell BC; National Institutes of Health Rare Lung Diseases Consortium; MILES Trial Group. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595-606. doi: 10.1056/NEJMoa1100391. Epub 2011 Mar 16. PubMed abstract
Tattersfield AE, Glassberg MK. Lymphangioleiomyomatosis: a national registry for a rare disease. Am J Respir Crit Care Med. 2006 Jan 1;173(1):2-4. PubMed abstract
Nurok M, Eslick I, Carvalho CR, Costabel U, D'Armiento J, Glanville AR, Harari S, Henske EP, Inoue Y, Johnson SR, Lacronique J, Lazor R, Moss J, Ruoss SJ, Ryu JH, Seyama K, Watz H, Xu KF, Hohmann EL, Moss F. The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform. Lymphat Res Biol. 2010 Mar;8(1):81-7. doi: 10.1089/lrb.2009.0028. PubMed abstract