A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features
PurposeFarber disease (OMIM 22800) is an ultrarare progressive multisystemic neurodevelopmental storage disorder caused by a deficiency of the lysosomal enzyme acid ceramidase (AC). Hard clinical end points for future clinical trials remain to be defined.MethodsWe quantitatively analyzed published c...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2018
|
| In: |
Genetics in medicine
Year: 2017, Jahrgang: 20, Heft: 5, Pages: 524-530 |
| ISSN: | 1530-0366 |
| DOI: | 10.1038/gim.2017.133 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1038/gim.2017.133 Verlag, Volltext: https://www.nature.com/articles/gim2017133 
|
| Verfasserangaben: | Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann & Markus Ries |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1580124267 | ||
| 003 | DE-627 | ||
| 005 | 20230427065646.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180816r20182017xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/gim.2017.133 |2 doi | |
| 035 | |a (DE-627)1580124267 | ||
| 035 | |a (DE-576)510124267 | ||
| 035 | |a (DE-599)BSZ510124267 | ||
| 035 | |a (OCoLC)1341017081 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Zielonka, Matthias |d 1983- |e VerfasserIn |0 (DE-588)1056891297 |0 (DE-627)79418670X |0 (DE-576)412871637 |4 aut | |
| 245 | 1 | 2 | |a A cross-sectional quantitative analysis of the natural history of Farber disease |b an ultra-orphan condition with rheumatologic and neurological cardinal disease features |c Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann & Markus Ries |
| 264 | 1 | |c 2018 | |
| 300 | |a 7 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Advance online publication 19 October 2017 | ||
| 500 | |a Published: 19 October 2017 | ||
| 500 | |a Gesehen am 16.08.2018 | ||
| 520 | |a PurposeFarber disease (OMIM 22800) is an ultrarare progressive multisystemic neurodevelopmental storage disorder caused by a deficiency of the lysosomal enzyme acid ceramidase (AC). Hard clinical end points for future clinical trials remain to be defined.MethodsWe quantitatively analyzed published cases with Farber disease (N = 96). The main outcome variables were survival and diagnostic delay. As a potential predictor of survival, the influence of residual AC enzyme activity was investigated. The analysis was performed in compliance with STROBE criteria.ResultsThe median survival period of the study population was 3 years. The median age at disease onset was 3 months, and the median age at diagnosis was 17 months. The median diagnostic delay was 13.75 months. Patients with residual AC activity in fibroblasts at more than 5.1% of the normal level survived significantly longer than patients with residual AC activity below this threshold. In addition, higher residual AC activity was associated with a later onset of symptoms.ConclusionFarber disease onset is in infancy. Diagnostic delay is typically substantial. Our data suggest a phenotype-biomarker association with implications for future clinical and therapeutic trials. In the absence of a prospective multicenter natural-history study protocol, we believe that our modeling approach, based on published case descriptions, is the best and most timely approximation for generalizability. | ||
| 534 | |c 2017 | ||
| 700 | 1 | |a Garbade, Sven |d 1971- |e VerfasserIn |0 (DE-588)129234362 |0 (DE-627)707186889 |0 (DE-576)297554263 |4 aut | |
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Ries, Markus |d 1971- |e VerfasserIn |0 (DE-588)136385338 |0 (DE-627)582068479 |0 (DE-576)300993358 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genetics in medicine |d Amsterdam : Elsevier, 1998 |g 20(2018), 5, Seite 524-530 |h Online-Ressource |w (DE-627)338073361 |w (DE-600)2063504-7 |w (DE-576)109132475 |x 1530-0366 |7 nnas |a A cross-sectional quantitative analysis of the natural history of Farber disease an ultra-orphan condition with rheumatologic and neurological cardinal disease features |
| 773 | 1 | 8 | |g volume:20 |g year:2018 |g number:5 |g pages:524-530 |g extent:7 |a A cross-sectional quantitative analysis of the natural history of Farber disease an ultra-orphan condition with rheumatologic and neurological cardinal disease features |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1038/gim.2017.133 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/gim2017133 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20180816 | ||
| 993 | |a Article | ||
| 994 | |a 2018 | ||
| 998 | |g 136385338 |a Ries, Markus |m 136385338:Ries, Markus |d 910000 |d 910500 |e 910000PR136385338 |e 910500PR136385338 |k 0/910000/ |k 1/910000/910500/ |p 5 |y j | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 4 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |e 910000PK1022937758 |e 910500PK1022937758 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 998 | |g 129234362 |a Garbade, Sven |m 129234362:Garbade, Sven |d 910000 |d 910500 |e 910000PG129234362 |e 910500PG129234362 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 1056891297 |a Zielonka, Matthias |m 1056891297:Zielonka, Matthias |d 910000 |d 910500 |e 910000PZ1056891297 |e 910500PZ1056891297 |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1580124267 |e 3022481799 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Matthias Zielonka, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann & Markus Ries"]},"origin":[{"dateIssuedDisp":"2018","dateIssuedKey":"2018"}],"language":["eng"],"recId":"1580124267","note":["Advance online publication 19 October 2017","Published: 19 October 2017","Gesehen am 16.08.2018"],"relHost":[{"part":{"pages":"524-530","issue":"5","extent":"7","year":"2018","volume":"20","text":"20(2018), 5, Seite 524-530"},"titleAlt":[{"title":"GIM"}],"disp":"A cross-sectional quantitative analysis of the natural history of Farber disease an ultra-orphan condition with rheumatologic and neurological cardinal disease featuresGenetics in medicine","corporate":[{"role":"isb","display":"American College of Medical Genetics"}],"id":{"zdb":["2063504-7"],"issn":["1530-0366"],"eki":["338073361"]},"type":{"media":"Online-Ressource","bibl":"periodical"},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"Genetics in medicine","title":"Genetics in medicine","subtitle":"official journal of the American College of Medical Genetics"}],"language":["eng"],"note":["Gesehen am 27.07.2023"],"recId":"338073361","origin":[{"publisher":"Elsevier ; Springer Nature ; Lippincott, Williams & Wilkins","dateIssuedDisp":"1998-","dateIssuedKey":"1998","publisherPlace":"Amsterdam ; London, UK ; Baltimore, Md."}],"pubHistory":["1.1998/99 -"]}],"physDesc":[{"extent":"7 S."}],"title":[{"title_sort":"cross-sectional quantitative analysis of the natural history of Farber disease","title":"A cross-sectional quantitative analysis of the natural history of Farber disease","subtitle":"an ultra-orphan condition with rheumatologic and neurological cardinal disease features"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"id":{"eki":["1580124267"],"doi":["10.1038/gim.2017.133"]},"person":[{"given":"Matthias","role":"aut","display":"Zielonka, Matthias","family":"Zielonka"},{"family":"Garbade","display":"Garbade, Sven","role":"aut","given":"Sven"},{"family":"Kölker","display":"Kölker, Stefan","role":"aut","given":"Stefan"},{"given":"Georg F.","role":"aut","display":"Hoffmann, Georg F.","family":"Hoffmann"},{"given":"Markus","role":"aut","display":"Ries, Markus","family":"Ries"}]} | ||
| SRT | |a ZIELONKAMACROSSSECTI2018 | ||