{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T08:41:36Z","timestamp":1777452096939,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,11,6]],"date-time":"2017-11-06T00:00:00Z","timestamp":1509926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,11,6]],"date-time":"2017-11-06T00:00:00Z","timestamp":1509926400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"Baylor Scott & White Research Foundation"},{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Adult polyglucosan body disease (APBD) is a progressive neurometabolic disorder caused by a deficiency of glycogen branching enzyme. We tested the efficacy of triheptanoin as a therapy for patients with APBD based on the hypothesis that decreased glycogen degradation leads to brain energy deficit.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>This was a two\u2010site, randomized crossover trial of 23 patients (age 35\u201373 years; 63% men) who received triheptanoin or vegetable oil as placebo. The trial took place over 1 year and was followed by a 4\u2010year open\u2010label phase. Generalized linear mixed models were used to analyze this study. At baseline, using the 6\u2010min walk test, patients could walk a mean of 389 \u00b1 164 m (range 95\u2013672; <jats:italic>n<\/jats:italic> = 19), highlighting the great clinical heterogeneity of our cohort. The overall mean difference between patients on triheptanoin versus placebo was 6 m; 95% confidence interval (CI) \u221211 to 22; <jats:italic>p<\/jats:italic> = 0.50. Motion capture gait analysis, gait quality, and stair climbing showed no consistent direction of change. All secondary endpoints were statistically nonsignificant after false discovery rate adjustment. Triheptanoin was safe and generally well tolerated. During the open\u2010label phase of the study, the most affected patients at baseline kept deteriorating while mildly disabled patients remained notably stable up to 4 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We cannot conclude that triheptanoin was effective in the treatment of APBD over a 6\u2010month period, but we found it had a good safety profile. This study also emphasizes the difficulty of conducting trials in very rare diseases presenting with a wide clinical heterogeneity. <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrials.gov\">ClinicalTrials.gov<\/jats:ext-link> Identifier: NCT00947960.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-017-0103-x","type":"journal-article","created":{"date-parts":[[2017,11,6]],"date-time":"2017-11-06T08:09:10Z","timestamp":1509955750000},"page":"877-883","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A double\u2010blind, placebo\u2010controlled trial of triheptanoin in adult polyglucosan body disease and open\u2010label, long\u2010term outcome"],"prefix":"10.1002","volume":"41","author":[{"given":"Raphael","family":"Schiffmann","sequence":"first","affiliation":[{"name":"Baylor Scott &amp; White Research Institute Dallas TX USA"},{"name":"Institute of Metabolic Disease 3812 Elm Street Dallas TX 75226 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E.","family":"Wallace","sequence":"additional","affiliation":[{"name":"Baylor Scott &amp; White Research Institute Dallas TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisy","family":"Rinaldi","sequence":"additional","affiliation":[{"name":"INSERM U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9s, UPMC Univ Paris 06 UMR S 1127, Brain and Spine Institute Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Ledoux","sequence":"additional","affiliation":[{"name":"Institute of Myology Neuromuscular Physiology and Evaluation Lab Paris F\u201075013 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Pierre","family":"Luton","sequence":"additional","affiliation":[{"name":"INSERM U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9s, UPMC Univ Paris 06 UMR S 1127, Brain and Spine Institute Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott","family":"Coleman","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Baylor University Medical Center Dallas TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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