{"id":1734,"date":"2022-06-15T14:59:41","date_gmt":"2022-06-15T14:59:41","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1734"},"modified":"2026-02-23T00:51:08","modified_gmt":"2026-02-23T00:51:08","slug":"the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\/","title":{"rendered":"The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (Contributed by Professor David Hessl)"},"content":{"rendered":"<p>People with the<em>\u00a0FMR1<\/em> premutation are at increased risk to develop a neurodegenerative disease (fragile X-associated tremor\/ataxia syndrome, FXTAS), reproductive health problems (in females), and potentially a range of other mental and general health conditions. This paper introduces the International Fragile X Premutation Registry (IFXPR), developed to facilitate research to better understand the premutation and its impact on human health, to facilitate clinical trial readiness, and to build community among carriers, family members, researchers, and clinicians around the world. Here, we describe the development and content of the IFXPR, characterize its first 747 registrants from 32 countries, and invite investigators to apply for recruitment support for their projects. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/06\/14\/jmedgenet-2022-108568\">https:\/\/jmg.bmj.com\/content\/early\/2022\/06\/14\/jmedgenet-2022-108568<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\/premutation-registry-combo-logo\/\" rel=\"attachment wp-att-1735\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1735\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/premutation-registry-combo-logo-300x66.png\" alt=\"\" width=\"300\" height=\"66\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/premutation-registry-combo-logo-300x66.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/premutation-registry-combo-logo.png 500w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>People with the\u00a0FMR1 premutation are at increased risk to develop a neurodegenerative disease (fragile X-associated tremor\/ataxia syndrome, FXTAS), reproductive health problems (in females), and potentially a range of other mental and general health conditions. This paper introduces the International Fragile X Premutation Registry (IFXPR), developed to facilitate research to better understand the premutation and its [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1734","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (Contributed by Professor David Hessl) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (Contributed by Professor David Hessl) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"People with the\u00a0FMR1 premutation are at increased risk to develop a neurodegenerative disease (fragile X-associated tremor\/ataxia syndrome, FXTAS), reproductive health problems (in females), and potentially a range of other mental and general health conditions. This paper introduces the International Fragile X Premutation Registry (IFXPR), developed to facilitate research to better understand the premutation and its [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-15T14:59:41+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:51:08+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/premutation-registry-combo-logo.png\" \/>\n\t<meta property=\"og:image:width\" content=\"500\" \/>\n\t<meta property=\"og:image:height\" content=\"110\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (Contributed by Professor David Hessl)\",\"datePublished\":\"2022-06-15T14:59:41+00:00\",\"dateModified\":\"2026-02-23T00:51:08+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/\"},\"wordCount\":135,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/06\\\/premutation-registry-combo-logo-300x66.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/the-international-fragile-x-premutation-registry-building-a-resource-for-research-and-clinical-trial-readiness\\\/\",\"name\":\"The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness (Contributed by Professor David Hessl) - 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