{"id":2067,"date":"2025-06-09T19:16:30","date_gmt":"2025-06-09T19:16:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2067"},"modified":"2026-02-22T01:09:34","modified_gmt":"2026-02-22T01:09:34","slug":"disease-burden-by-alpl-variant-number-in-patients-with-non-life-threatening-hypophosphatasia-in-the-global-hpp-registry","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/06\/09\/disease-burden-by-alpl-variant-number-in-patients-with-non-life-threatening-hypophosphatasia-in-the-global-hpp-registry\/","title":{"rendered":"Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry (Contributed by Dr. Priya S Kishnani)"},"content":{"rendered":"

Hypophosphatasia (HPP) is a rare disease caused by changes in the ALPL <\/em>gene \u2013 these changes are also known as \u201cvariants\u201d. This study analyzed 685 patients from the Global HPP Registry to compare disease burden in patients with 1 variant versus those with 2 or more variants in the ALPL<\/em> gene. No differences were reported in pain, disability, or quality of life between the two groups of patients. These findings demonstrate that patients with HPP have a high disease burden regardless of the number of variants in their ALPL<\/em> gene. (https:\/\/jmg.bmj.com\/content\/62\/4\/249<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Hypophosphatasia (HPP) is a rare disease caused by changes in the ALPL gene \u2013 these changes are also known as \u201cvariants\u201d. This study analyzed 685 patients from the Global HPP Registry to compare disease burden in patients with 1 variant versus those with 2 or more variants in the ALPL gene. No differences were reported […]<\/p>\n

Read More…<\/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-2067","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nDisease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry (Contributed by Dr. Priya S Kishnani) - 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\/2025\/06\/09\/disease-burden-by-alpl-variant-number-in-patients-with-non-life-threatening-hypophosphatasia-in-the-global-hpp-registry\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry (Contributed by Dr. Priya S Kishnani) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hypophosphatasia (HPP) is a rare disease caused by changes in the ALPL gene \u2013 these changes are also known as \u201cvariants\u201d. This study analyzed 685 patients from the Global HPP Registry to compare disease burden in patients with 1 variant versus those with 2 or more variants in the ALPL gene. 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