{"id":59210,"date":"2020-11-02T19:25:42","date_gmt":"2020-11-03T00:25:42","guid":{"rendered":"https:\/\/rarediseases.org\/nord-and-patient-advocacy-groups-host-an-el-pfdd-meeting-on-krabbe-disease\/"},"modified":"2020-11-02T19:25:42","modified_gmt":"2020-11-03T00:25:42","slug":"nord-and-patient-advocacy-groups-host-an-el-pfdd-meeting-on-krabbe-disease","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/nord-and-patient-advocacy-groups-host-an-el-pfdd-meeting-on-krabbe-disease\/","title":{"rendered":"NORD and Patient Advocacy Groups Host an EL-PFDD Meeting on Krabbe Disease"},"content":{"rendered":"[carousel id=”48517″]\n

One of the most important gatherings of the\u00a0<\/span>K<\/span>rabbe disease community occurred\u00a0<\/span>in collaboration with the US Food and Drug Administration\u00a0<\/span>(FDA)<\/span>\u00a0<\/span>on October 29<\/span>,<\/span>\u00a0<\/span>and it was 100% virtual<\/span>\u00a0with live<\/span>,<\/span>\u00a0interactive components<\/span>.\u00a0<\/span>FDA\u00a0<\/span>regulators, academic researchers and industry drug developers came together\u00a0<\/span>with Krabbe disease patients<\/span>,<\/span>\u00a0<\/span>caregivers<\/span>\u00a0and advocates<\/span>\u00a0for<\/span>\u00a0an\u00a0<\/span>inside look\u00a0<\/span>in<\/span>to the unvarnished reality\u00a0<\/span>of<\/span>\u00a0people living with\u00a0<\/span>this type of<\/span>\u00a0leuk<\/span>o<\/span>d<\/span>y<\/span>str<\/span>o<\/span>phy<\/span>.<\/span>\u00a0The\u00a0<\/span>four<\/span>–<\/span>hour\u00a0<\/span>externally-led Patient-Focused Drug Development (EL-PFDD) <\/span>meeting<\/span>\u00a0on Krabbe disease<\/span>\u00a0was marked by\u00a0<\/span>tear<\/span>-filled testimonials<\/span>\u00a0from parents who\u00a0<\/span>shared about the pain of watching the ravaging course of the disease on their\u00a0<\/span>children and ultimately, the loss that is far too common in this community<\/span>.<\/span>\u00a0<\/span>\u00a0<\/span><\/p>\n

The goals of th<\/span>e<\/span>\u00a0meeting were to provide a robust understanding of how individuals with Krabbe disease view their quality of life, wh<\/span>ich<\/span>\u00a0aspects of the disease are most problematic for them, and what actions they currently perform to treat and cope with this disease.<\/span>\u00a0<\/span>A dozen caregivers and patients<\/span>\u00a0shared\u00a0<\/span>emotionally\u00a0<\/span>compelling\u00a0<\/span>stories\u00a0<\/span>of how the disease\u00a0<\/span>has\u00a0<\/span>wreaked havoc on their jobs,\u00a0<\/span>sleep, psychological health,\u00a0<\/span>marriages<\/span>,<\/span>\u00a0<\/span>family\u00a0<\/span>structure<\/span>\u00a0and relationships with their children diagnosed with this disease.\u00a0<\/span>\u00a0<\/span><\/p>\n

The audience\u00a0<\/span>also\u00a0<\/span>heard directly from patients who recounted their painful, unpredictable daily struggles with the disease\u2019s widespread symptoms<\/span>,<\/span>\u00a0including<\/span>\u00a0<\/span>Jhyrve<\/span>\u00a0Sears<\/span>, who<\/span>\u00a0spoke about the disease burden and how it often affects her daily life. \u201cOn bad days, I can sleep up to 22 hours a day. On those days I cannot put my thoughts together, I have no balance, and I am in a lot of pain. I struggle to function.\u201d<\/span>\u00a0<\/span><\/p>\n

In a<\/span>n<\/span>\u00a0<\/span>honest and courageous speech,\u00a0<\/span>Natasha<\/span>\u00a0Spencer<\/span>\u00a0<\/span>spoke about the devastating<\/span>\u00a0interpersonal<\/span>\u00a0<\/span>impact of the disease, as she was forced to\u00a0<\/span>focus on acting as<\/span>\u00a0h<\/span>er\u00a0<\/span>son\u2019s doctor, nurse,\u00a0<\/span>therapist,\u00a0<\/span>social worker<\/span>\u00a0and<\/span>\u00a0case\u00a0<\/span>manager<\/span>,<\/span>\u00a0<\/span>and\u00a0<\/span>less\u00a0<\/span>on being<\/span>\u00a0hi<\/span>s mom<\/span>.<\/span>\u00a0\u201c<\/span>Kenan\u2019s been gone for\u00a0<\/span>two and a half<\/span>\u00a0<\/span>years now and without him here, my greatest sadness is knowing and understanding more about Krabbe disease than I ever did about him.<\/span>\u201d<\/span>\u00a0<\/span><\/p>\n

The second half of the meeting focused on\u00a0<\/span>patient and caregiver\u00a0<\/span>experiences around treatments,\u00a0<\/span>clinical\u00a0<\/span>trials<\/span>\u00a0and the community\u2019s barriers to participating in trials.<\/span>\u00a0<\/span>A significant learning of this meeting was\u00a0<\/span>gleaned\u00a0<\/span>from live polling: of all the factors in decision-making around choice of medications, the community overwhelmingly trusts their physician on decision<\/span>–<\/span>making around treatments. One Krabbe mom, Christin We<\/span>b<\/span>b, shared in her testimony, \u201cDr.\u00a0<\/span>K<\/span>urt<\/span>zberg<\/span>\u00a0presented us with the opportunity to\u00a0<\/span>enter into<\/span>\u00a0a clinical trial and [Owen] would be the second in the world and first with Krabbe to partake. The unknowns, made us a little uneasy, but as she explained more in depth the purpose of this therapy, we saw no reason not to participate.\u201d<\/span>\u00a0<\/span><\/p>\n

This event was the<\/span>\u00a0<\/span>result of nearly a year of\u00a0<\/span>planning and development\u00a0<\/span>as<\/span>\u00a0<\/span>NORD worked with<\/span>\u00a0<\/span>a passionate group of<\/span>\u00a0Krabbe nonprofit<\/span>\u00a0organization<\/span>s<\/span>\u00a0including<\/span>\u00a0<\/span>KrabbeConnect<\/span>,<\/span>\u00a0<\/span>The Legacy of Angels Foundation, Partners for Krabbe Research<\/span>\u00a0and<\/span>\u00a0Hunter<\/span>\u2019<\/span>s Hope,\u00a0<\/span>with additional support from\u00a0<\/span>Gain Therapeutics, Magenta<\/span> Therapeutics, Neurogene<\/span>\u00a0and<\/span>\u00a0<\/span>PassageBio<\/span>.<\/span>\u00a0<\/span>NORD coordinated\u00a0<\/span>the meeting<\/span>\u00a0<\/span>planning<\/span>\u00a0with the patient<\/span>\u00a0groups<\/span>\u00a0and\u00a0<\/span>key administrators at\u00a0<\/span>FDA<\/span>.\u00a0<\/span>NORD\u00a0<\/span>has a long-standing history of collaboration with FDA, coordinating dozens of\u00a0<\/span>l<\/span>istening\u00a0<\/span>s<\/span>essions and last year,\u00a0<\/span>host<\/span>ing\u00a0<\/span>an in-person EL-PFDD\u00a0<\/span>for pyruvate kinase deficienc<\/span>y. In our experience, the in-person format of these\u00a0<\/span>event<\/span>s<\/span>\u00a0<\/span>attract<\/span>s<\/span>\u00a0<\/span>around\u00a0<\/span>100-120 people<\/span>;<\/span>\u00a0in contrast<\/span>,\u00a0<\/span>the virtual EL-PFDD meeting<\/span>\u00a0attracted\u00a0<\/span>238 registr<\/span>ations<\/span>,\u00a0<\/span>including many people\u00a0<\/span>who<\/span> had to make last-minute decisions on whether they would attend\u00a0<\/span>the meeting\u00a0<\/span>live or\u00a0<\/span>access the archive<\/span>d content<\/span>\u00a0<\/span>later, because of the unpredictab<\/span>ility\u00a0<\/span>of\u00a0<\/span>the flare<\/span>–<\/span>u<\/span>ps and symptoms of\u00a0<\/span>this disease.\u00a0<\/span>\u00a0<\/span><\/p>\n

EL-PFDD<\/span>\u00a0meetings\u00a0<\/span>are a way for FDA to\u00a0<\/span>hear from disease communities\u00a0<\/span>and for\u00a0<\/span>people affected by complex medical conditions to<\/span>\u00a0share critical information about the impact of\u00a0<\/span>the<\/span>\u00a0<\/span>disease\u00a0<\/span>on their daily\u00a0<\/span>lives, their<\/span>\u00a0experience<\/span>s<\/span>\u00a0with currently available treatments<\/span>,\u00a0<\/span>history and<\/span>\u00a0preferences\u00a0<\/span>with clinical trials<\/span>, and\u00a0<\/span>hopes for future therapies<\/span>.<\/span>\u00a0<\/span>As\u00a0<\/span>Dr. Melanie Blank,<\/span>\u00a0Medical Officer with FDA,<\/span>\u00a0says,<\/span>\u00a0\u201c<\/span>P<\/span>atients are the experts of their disease<\/span>.<\/span>\u201d\u00a0<\/span>T<\/span>heir\u00a0<\/span>experiences provide valuable insight for the\u00a0<\/span>F<\/span>DA and other researchers, medical product developers and health care providers.\u00a0<\/span>\u00a0<\/span><\/p>\n

We recognize the great courage of these select panelists and\u00a0<\/span>are grateful<\/span>\u00a0for their candor and bravery in sharing their\u00a0<\/span>thoughts and experiences<\/span>.\u00a0<\/span>To watch these stories and the entire meeting, please visit: <\/span>https:\/\/rarediseases.org\/krabbe-disease-externally-led-patient-focused-drug-development-meeting-registration\/<\/span><\/a>.\u00a0<\/span>W<\/span>ritten comments and\u00a0<\/span>polling questions<\/span>\u00a0are open to\u00a0<\/span>members of the<\/span>\u00a0<\/span>Krabbe community\u00a0<\/span>for participation prior to November 30<\/span>.<\/span>\u00a0<\/span><\/p>\n

The results of the Krabbe disease EL-PFDD meeting will be shared publicly <\/span>in\u00a0<\/span>a<\/span>n<\/span>\u00a0upcoming<\/span> \u201cVoice of the Patient\u201d report,\u00a0<\/span>in an effort to<\/span>\u00a0inform the development of potential treatments that can improve the lives of patients living with Krabbe disease.<\/span>\u00a0<\/span><\/p>\n

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

[carousel id=”48517″] One of the most important gatherings of the\u00a0Krabbe disease community occurred\u00a0in collaboration with the US Food and Drug Administration\u00a0(FDA)\u00a0on October 29,\u00a0and it was 100% virtual\u00a0with live,\u00a0interactive components.\u00a0FDA\u00a0regulators, academic … <\/p>\n

Continue reading “NORD and Patient Advocacy Groups Host an EL-PFDD Meeting on Krabbe Disease”<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"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":[232,190,210,192,193],"tags":[2544,2325,2543,1251,2323,2548,2545,2547,2324,2546,2542,2160],"class_list":["post-59210","post","type-post","status-publish","format-standard","hentry","category-advocacy","category-featured-news","category-industry","category-patients-members","category-research","tag-gain-therapeutics","tag-galactocerebrosidase","tag-hunters-hope","tag-krabbe-disease","tag-krabbeconnect","tag-lysosomal-storage-disorder","tag-magenta-therapeutics","tag-neurogene","tag-partners-for-krabbe-research","tag-passagebio","tag-the-legacy-of-angels-foundation","tag-voice-of-the-patient"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/59210","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=59210"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/59210\/revisions"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=59210"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=59210"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=59210"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}