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HD INSIGHTS Highlights from the 2011 Huntington Study Group Meeting In November 2011, the Huntington Study Group hosted its annual meeting and the Fifth Annual Huntington Disease Clinical Research Symposium. By: David Shprecher, DO, MS Huntington Study Group Meeting NIH Endeavors Elizabeth Thompson, DNSc, RN, CGC, FAAN discussed special genetic research considerations, including consent, reporting results, and data sharing. The Database of Genotype & Phenotype (dbGaP) has been developed to improve dissemination of results and data sharing.1 Neuroimaging Elizabeth Aylward, PhD overviewed the PREDICT- HD team's identification of potential neuroimaging biomarkers that are reliable across sites, and that show cross-sectional outcomes associated with disease burden.2 Christopher Ross, MD, PhD discussed considerations for the use of neuroimaging biomarkers, including MR spectroscopy and functional MRI. Early in HD, findings of altered glutamate levels or functional connectivity patterns could reflect cell dysfunction rather than cell death. Bernhard Landwehrmeyer, MD presented imaging data from the TRACK-HD team.3 Brain atrophy, which is a reliably detectable change in HD gene mutation carriers, was less distinct in carriers furthest from the projected onset of manifest HD symptoms.4 Fifth Annual Huntington Disease Clinical Research Symposium Mary Edmondson, MD discussed how her career as a neurologist was influenced by her father, HC Canning, who lost his battle with HD in 1995. Karen Anderson, MD reviewed behavioral changes associated with HD. Suicide in HD patients may be prevented by delaying a patient's actions to allow impulsive thoughts or rage to pass. Platforms: Mark Groves, MD discussed a treatment algorithm, developed from an international survey of clinicians, for pharmacological treatment of irritability and perseverative behaviors in HD patients.5 6 The two-day meeting and scientific symposium was held in Indianapolis, Indiana. Eric Epping, MD PhD and Kevin Biglan, MD MPH presented PREDICT-HD data findings. 7 HD symptoms are reported more frequently by companions than by patients, and this apparent loss of patient insight into their symptoms worsens following diagnosis of manifest symptoms. Identifying and clinically defining disease onset is a challenge; multidimensional diagnosis results in earlier diagnosis and allows for identification of clinical phenotypes that are predominantly cognitive or predominantly behavioral. Karen Marder, MD MPH reviewed the role of diet and exercise in HD. There is evidence for metabolic defects in HD. Individuals can maintain their weight with increased caloric intake. Steve Hersch, MD PhD presented data on the transcriptional modulator H2A histone family member Y.8 This is a biomarker, expressed in both blood and brain, that completely distinguishes HD expansion carriers from non-carriers. The Na'onal Ins'tute of Neurological Disorders and Stroke (NINDS), Na'onal Ins'tutes of Health (NIH), invites you to review the dra? HD Common Data Elements (CDEs). The NINDS is commi.ed to harmonizing data collec7on to facilitate the analysis and sharing of data in clinical research studies across neurological disorders, including Hun7ngton disease (HD). To this end, NINDS ini7ated the CDE Project which is fully described on the NINDS CDE website. This project aims to develop generic and disease-‐specific content standards to enable inves7gators to systema7cally collect, analyze, and share data. It is expected that use of the CDEs will reduce study start-‐up 7me, improve data quality, and facilitate comparisons between studies. The HD CDEs are now available on the NINDS CDE website for public review through February 29, 2012. To review the recommenda7ons: 1. Navigate to h.p://www.commondataelements.ninds.nih.gov/HD.aspx 2. From the HD CDE Standards page, scroll to the Data Standards sec7on, and download the zip file containing the review package 3. Unzip the zip file and read the 'Instruc7ons.doc' document for 7ps on how to conduct the review and submit comments. The CDEs will require further refinement and valida7on, and the public review is a cri7cal step in this process. Your feedback is important to ensure the success of this project. _______________________________________________________________________________________________________________________________________________ 1http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/about.htm 2 Aylward EH, Nopoulos PC, et al. (2010). Longitudinal change in regional brain volumes in prodromal Huntington disease. J Neurol Neurosurg Psychiatry. Advance online publication. http://dx.doi.org/ 10.1136/jnnp.2010.208264 3 http://www.euro-hd.net 4 Tabrizi S J, Reilmann R, et al. (2012). Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol 11(1): 42-53. 5 Groves M, van Duijn E, Anderson K, Craufurd D, Edmondson MC, Goodman N, van Kammen DP, Goodman L. An International Survey-based Algorithm for the Pharmacologic Treatment of Irritability in Huntington's Disease. PLoS Curr2011;3:RRN1259. 4 6 http://hddrugworks.org. Available from: http://hddrugworks.org. 7 Biglan KM, Ross CA, Langbehn DR, Aylward EH, Stout JC, Queller S, Carlozzi NE, Duff K, Beglinger LJ, Paulsen JS. Motor abnormalities in premanifest persons with Huntington's disease: the PREDICT-HD study. Mov Disord2009 Sep 15;24(12):1763-72. 8 Hu Y, Chopra V, Chopra R, Locascio JJ, Liao Z, Ding H, Zheng B, Matson WR, Ferrante RJ, Rosas HD, Hersch SM, Scherzer CR. Transcriptional modulator H2A histone family, member Y (H2AFY) marks Huntington disease activity in man and mouse. Proc Natl Acad Sci U S A2011 Oct 11;108(41): 17141-6.PREDICT-HD study. Mov Disord. 2009; 24:1763-1772. Copyright © Huntington Study Group 2012. All rights reserved. HD Insights, Vol. 2