PMID- 24119230
OWN - NLM
STAT- MEDLINE
DCOM- 20140717
LR  - 20211021
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 8
DP  - 2013 Oct 12
TI  - The clinical relevance of outcomes used in late-onset Pompe disease: can we do 
      better?
PG  - 160
LID - 10.1186/1750-1172-8-160 [doi]
AB  - Pompe disease/glycogen storage disease type II, is a rare, lysosomal storage 
      disorder associated with progressive proximal myopathy, causing a gradual loss of 
      muscular function and respiratory insufficiency. Studies of patients with 
      late-onset Pompe disease have used endpoints such as the 6-minute walking test 
      (6MWT) and forced vital capacity (FVC) to assess muscular and respiratory 
      function during disease progression or treatment. However, the relevance of these 
      markers to late-onset Pompe disease and the minimal clinically important 
      difference (MCID) for these endpoints in late-onset Pompe disease have not yet 
      been established. A literature search was carried out to identify studies 
      reporting the MCID (absolute and relative) for the 6MWT and FVC in other 
      diseases. The MCIDs determined in studies of chronic respiratory diseases were 
      used to analyze the results of clinical studies of enzyme replacement therapy in 
      late-onset Pompe disease. In 9 of the 10 late-onset Pompe disease studies 
      reviewed, changes from baseline in the 6MWT were above or within the MCID 
      established in respiratory diseases. Clinical improvement was perceived by 
      patients in 6 of the 10 studies. In 6 of the 9 late-onset Pompe disease studies 
      that reported FVC, the changes from baseline in percentage predicted FVC were 
      above or within the MCID established in respiratory diseases and the difference 
      was perceived as either an improvement or stabilization by patients. However, 
      applying the 6MWT and FVC MCIDs from studies of chronic respiratory diseases to 
      late-onset Pompe disease has several important limitations. Outcome measures in 
      muscular dystrophies include composite measures of muscle function and gait, as 
      well as Rasch-designed and validated tools to assess disease-related quality of 
      life and activities of daily living. Given that the relevance to patients with 
      late-onset Pompe disease of the 6MWT or FVC MCIDs established for chronic 
      respiratory diseases is unclear, these measures should be evaluated specifically 
      in late-onset Pompe disease and alternative outcome measures more specific to 
      neuromuscular disease considered.
FAU - Lachmann, Robin
AU  - Lachmann R
AD  - Friedrich-Baur Institut, Neurologische Klinik, Klinikum der Universitat Munchen, 
      Munchen, Germany. bschoser@med.uni-muenchen.de.
FAU - Schoser, Benedikt
AU  - Schoser B
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20131012
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
SB  - IM
MH  - Enzyme Replacement Therapy
MH  - Glycogen Storage Disease Type II/*drug therapy/metabolism/*physiopathology
MH  - Humans
MH  - Muscular Dystrophies/drug therapy/metabolism/physiopathology
MH  - Vital Capacity/physiology
PMC - PMC4015278
EDAT- 2013/10/15 06:00
MHDA- 2014/07/18 06:00
PMCR- 2013/10/12
CRDT- 2013/10/15 06:00
PHST- 2013/09/02 00:00 [received]
PHST- 2013/10/09 00:00 [accepted]
PHST- 2013/10/15 06:00 [entrez]
PHST- 2013/10/15 06:00 [pubmed]
PHST- 2014/07/18 06:00 [medline]
PHST- 2013/10/12 00:00 [pmc-release]
AID - 1750-1172-8-160 [pii]
AID - 10.1186/1750-1172-8-160 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2013 Oct 12;8:160. doi: 10.1186/1750-1172-8-160.