Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study

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Patterson, Marc C.Mayo Clinic Minnesota (author)

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study

Article/chapterEnglish2015

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2015-05-28
Springer Science and Business Media LLC,2015

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LIBRIS-ID:oai:lup.lub.lu.se:ad0273b0-a722-43af-9025-0e43fd805476
https://lup.lub.lu.se/record/ad0273b0-a722-43af-9025-0e43fd805476URI
https://doi.org/10.1186/s13023-015-0284-zDOI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

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BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in patients in the international NPC Registry who received continuous treatment with miglustat.METHODS: The NPC Registry is a prospective observational cohort of NP-C patients. Enrolled patients who received ≥1 year of continuous miglustat therapy (for ≥90 % of the observation period, with no single treatment interruption >28 days) were included in this analysis. Disability was measured using a scale rating the four domains, ambulation, manipulation, language and swallowing from 0 (normal) to 1 (worst). Neurological disease progression was analysed in all patients based on: 1) annual progression rates between enrolment and last follow up, and; 2) categorical analysis with patients categorised as 'improved/stable' if ≥3/4 domain scores were lower/unchanged, and as 'progressed' if <3 scores were lower/unchanged between enrolment and last follow-up visit.RESULTS: In total, 283 patients were enrolled from 28 centers in 13 European countries, Canada and Australia between September 2009 and October 2013; 92 patients received continuous miglustat therapy. The mean (SD) miglustat exposure during the observation period (enrolment to last follow-up) was 2.0 (0.7) years. Among 84 evaluable patients, 9 (11 %) had early-infantile (<2 years), 27 (32 %) had late-infantile (2 to <6 years), 30 (36 %) had juvenile (6 to <15 years) and 18 (21 %) had adolescent/adult (≥15 years) onset of neurological manifestations. The mean (95%CI) composite disability score among all patients was 0.37 (0.32,0.42) at enrolment and 0.44 (0.38,0.50) at last follow-up visit, and the mean annual progression rate was 0.038 (0.018,0.059). Progression of composite disability scores appeared highest among patients with neurological onset during infancy or childhood and lowest in those with adolescent/adult-onset. Overall, 59/86 evaluable patients (69 %) were categorized as improved/stable and the proportion of improved/stable patients increased with age at neurological onset. Safety findings were consistent with previous data.CONCLUSIONS: Disability status was improved/stable in the majority of patients who received continuous miglustat therapy for an average period of 2 years.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng
1-Deoxynojirimycin
Adolescent
Adult
Child
Child, Preschool
Cohort Studies
Disease Progression
Enzyme Inhibitors
Female
Humans
Male
Niemann-Pick Disease, Type C
Prospective Studies
Treatment Outcome
Young Adult
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Added entries (persons, corporate bodies, meetings, titles ...)

Mengel, EugenJohannes-Gutenberg University Mainz (author)
Vanier, Marie T.National Institute for Health and Medical Research, France (author)
Schwierin, BarbaraActelion Pharmaceuticals Ltd. (author)
Muller, AudreyActelion Pharmaceuticals Ltd. (author)
Cornelisse, PeterActelion Pharmaceuticals Ltd. (author)
Pineda, MercèHospital Sant Joan de Déu Barcelona (author)
Puschmann, AndreasLund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups(Swepub:lu)med-aps (author)
Rask, OlofLund University,Lunds universitet,Barn- och ungdomspsykiatri,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Child and Adolescent Psychiatry,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)pedi-ora (author)
Mayo Clinic MinnesotaJohannes-Gutenberg University Mainz (creator_code:org_t)
NPC Registry investigators

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In:Orphanet Journal of Rare Diseases: Springer Science and Business Media LLC10, s. 65-651750-1172

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