{"id":59197,"date":"2020-10-01T14:07:21","date_gmt":"2020-10-01T18:07:21","guid":{"rendered":"https:\/\/rarediseases.org\/nord-launches-innovative-natural-history-study-on-metachromatic-leukodystrophy-mld\/"},"modified":"2024-11-06T10:47:04","modified_gmt":"2024-11-06T15:47:04","slug":"nord-launches-innovative-natural-history-study-on-metachromatic-leukodystrophy-mld","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/nord-launches-innovative-natural-history-study-on-metachromatic-leukodystrophy-mld\/","title":{"rendered":"NORD Launches Innovative Natural History Study on Metachromatic Leukodystrophy (MLD)"},"content":{"rendered":"

Washington, DC,<\/span><\/b>\u00a0<\/span><\/b>10<\/span><\/b>\/<\/span><\/b>1<\/span><\/b>\/2020 —<\/span><\/b>\u00a0<\/span><\/b>Today, the National Organization for Rare Disorders (NORD<\/span>\u00ae<\/span>) opened registration for a\u00a0<\/span>natural history study on metachromatic leukodystrophy (MLD)<\/span>, a lethal <\/span>rare\u00a0<\/span>disease<\/span>\u00a0<\/span>currently\u00a0<\/span>without an<\/span>\u00a0FDA<\/span>–<\/span>approved treatment<\/span>.\u00a0<\/span>NORD\u2019s<\/span>\u00a0<\/span>Natural<\/span><\/i>\u00a0<\/span>H<\/span><\/i><\/b>istory\u00a0<\/span><\/i>O<\/span><\/i><\/b>f\u00a0<\/span><\/i>ME<\/span><\/i><\/b>tachromatic<\/span><\/i>\u00a0Leukodystrophy<\/span><\/i>\u00a0(<\/span>HOME<\/span>) Study<\/span>\u00a0represents an opportunity<\/span>\u00a0to address an area of unmet need,<\/span>\u00a0provid<\/span>ing<\/span>\u00a0<\/span>dynamic data collection and a n<\/span>ovel<\/span>\u00a0framework for building regulatory-grade rare disease natural history stud<\/span>ies incorporating patient-repo<\/span>rted information<\/span>. This pilot project\u00a0<\/span>is funded through a<\/span>n award\u00a0<\/span>(<\/span>#<\/span>75F40119C10091<\/span>*<\/span>)<\/span>\u00a0<\/span>to NORD from the US Food & Drug Administration (FDA),\u00a0<\/span>Center for Biologics Evaluation and Research (CBER)<\/span>.<\/span>\u00a0<\/span><\/p>\n

The<\/span>\u00a0<\/span>HOME Study<\/span>, hosted by NORD\u2019s IAMRARE\u2122 Registry Program,\u00a0<\/span>enables<\/span>\u00a0patients and caregivers to\u00a0<\/span>virtually\u00a0<\/span>contribute directly to research<\/span>\u00a0<\/span>from the comfort and safety of their home,\u00a0<\/span>without the demands and challenges of travel<\/span>ing to a study site<\/span>. The goal<\/span>s<\/span>\u00a0of\u00a0<\/span>the\u00a0<\/span>study<\/span>\u00a0<\/span>are<\/span>\u00a0to<\/span>\u00a0enhance<\/span>\u00a0understanding of metachromatic\u00a0<\/span>leukodystrophy, inform<\/span>\u00a0<\/span>methods for building natural history studies to serve as external controls, reduc<\/span>e<\/span>\u00a0the burden for patient participation in clinical trials<\/span>,<\/span>\u00a0and provid<\/span>e<\/span>\u00a0innovative methods for the use of natural history study data\u00a0<\/span>to help\u00a0<\/span>accelerate\u00a0<\/span>therapeutic\u00a0<\/span>drug\u00a0<\/span>development and\u00a0<\/span>FDA decision-making.<\/span>\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cThrough this\u00a0<\/span>ground-breaking\u00a0<\/span>project, NORD aims to make a significant contribution to regulatory science\u00a0<\/span>by proving the utility of well-designed patient studies, integrating data sources, and presenting a set of good practices to inform future research,<\/span>\u201d said Peter L. Saltonstall, President and CEO of NORD. \u201cIt is through<\/span>\u00a0innovative<\/span>\u00a0new\u00a0<\/span>approaches<\/span>\u00a0<\/span>like the HOME Study\u00a0<\/span>and\u00a0<\/span>with\u00a0<\/span>the support of FDA that we can raise the voices of patients and caregivers and create lasting, meaningful change in the process of rare disease drug development.\u201d<\/span>\u00a0<\/span><\/p>\n

M<\/span>etachromatic leukodystrophy<\/span>\u00a0(MLD)<\/span>\u00a0<\/span>is a<\/span>\u00a0rare\u00a0<\/span>autosomal recessive genetic disorder\u00a0<\/span>that causes the destruction of the m<\/span>yelin sheath, the protective fatty layer surrounding the nerves in both the central and peripheral nervous systems.<\/span>\u00a0<\/span>There are three types of MLD based on the age symptoms appear<\/span>:<\/span>\u00a0r<\/span>egardless of the subtype,<\/span>\u00a0the<\/span>\u00a0last stage of th<\/span>is devastating<\/span>\u00a0disease is often characterized by blindness,<\/span>\u00a0psychosis and paralysis.\u00a0<\/span>Bone marrow transplantation may delay progression of the disease in some infantile-onset cases, while other treatment is symptomatic and supportive.\u00a0<\/span>It is a painful and debilitating disorder for those affected, as well as their caregivers.<\/span>\u00a0<\/span><\/p>\n

\u00a0<\/span>\u201cThe HOME Study\u00a0<\/span>highlights<\/span>\u00a0the value of patient participation in research and therapy development<\/span>, empowering<\/span>\u00a0MLD patients and caregivers to make a difference for themselves and for other<\/span>s<\/span>\u00a0who may be born with this condition in the future,\u201d said Pamela Gavin, NORD\u2019s Chief Strategy Officer. \u201cThe project also underscores the important contributions multi-stakeholder\u00a0<\/span>research\u00a0<\/span>collaborations can make to tackling novel frameworks<\/span>, and\u00a0<\/span>NORD is<\/span>\u00a0<\/span>grateful to<\/span>\u00a0those who volunteered to participate in our MLD advisory councils. Our hope is that the success of this study will support the efficient development of treatments and cures for MLD and progress our use of external control arms for the benefit of the entire rare disease community.\u201d<\/span>\u00a0<\/span><\/p>\n

Visit\u00a0<\/span>our\u00a0<\/span>website<\/span><\/a>\u00a0<\/span>f<\/span>or\u00a0<\/span>more information and to join<\/span>\u00a0NORD<\/span>\u2019s<\/span>\u00a0<\/span>HOME Study<\/span>. <\/span>*Funding for this press release was made possible, in part, by the Food and Drug Administration through <\/span>award<\/span>\u00a0#<\/span>75F40119C10091<\/span>. Views expressed in written materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does any mention of trade names, commercial practices, or organization imply endorsement by the United States Government.*<\/span>\u00a0<\/span><\/p>\n

#\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 #\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 #<\/span>\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

Washington, DC,\u00a010\/1\/2020 —\u00a0Today, the National Organization for Rare Disorders (NORD\u00ae) opened registration for a\u00a0natural history study on metachromatic leukodystrophy (MLD), a lethal rare\u00a0disease\u00a0currently\u00a0without an\u00a0FDA–approved treatment.\u00a0NORD\u2019s\u00a0Natural\u00a0History\u00a0Of\u00a0MEtachromatic\u00a0Leukodystrophy\u00a0(HOME) Study\u00a0represents an opportunity\u00a0to address an … <\/p>\n

Continue reading “NORD Launches Innovative Natural History Study on Metachromatic Leukodystrophy (MLD)”<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":13007,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","_price":"","_stock":"","_tribe_ticket_header":"","_tribe_default_ticket_provider":"","_tribe_ticket_capacity":"","_ticket_start_date":"","_ticket_end_date":"","_tribe_ticket_show_description":"","_tribe_ticket_show_not_going":false,"_tribe_ticket_use_global_stock":"","_tribe_ticket_global_stock_level":"","_global_stock_mode":"","_global_stock_cap":"","_tribe_rsvp_for_event":"","_tribe_ticket_going_count":"","_tribe_ticket_not_going_count":"","_tribe_tickets_list":"[]","_tribe_ticket_has_attendee_info_fields":false,"footnotes":""},"categories":[232,190,192,504,193],"tags":[2499,2440,244,1275,2498,1470,1252,1552,382,803,243,2500],"class_list":["post-59197","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-advocacy","category-featured-news","category-patients-members","category-press-releases","category-research","tag-cber","tag-center-for-biologics-evaluation-and-research","tag-fda","tag-food-and-drug-administration","tag-home-study","tag-iamrare","tag-metachromatic-leukodystrophy","tag-mld","tag-natural-history","tag-pamela-gavin","tag-peter-l-saltonstall","tag-unmet-need"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/59197","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/comments?post=59197"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/59197\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media\/13007"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=59197"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=59197"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=59197"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}