title: The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.
abstract: OBJECTIVE
  The objectives of this study are to quantify endurance and respiratory function and better characterize spectrum of symptoms and biochemical abnormalities in mucopolysaccharidosis IVA subjects.
  
  
  METHODS
  MorCAP was a multicenter, multinational, cross sectional study amended to be longitudinal in 2011. Each study visit required collection of medical history, clinical assessments, and keratan sulfate (KS) levels.
  
  
  RESULTS
  Data from the first visit of 325 subjects (53% female) were available. Mean age was 14.5 years. Mean ± SD height z-scores were -5.6 ± 3.1 as determined by the CDC growth charts. Mean ± SD from the 6-minute-walk-test was 212.6 ± 152.2m, revealing limitations in functional endurance testing, and 30.0 ± 24.0 stairs/min for the 3-minute-stair-climb test. Respiratory function showed limitations comparable to MPS VI patients; mean ± SD was 1.2 ± 0.9l based on forced vital capacity and 34.8 ± 25.5l/min based on maximum voluntary ventilation. Mean urinary keratan sulfate (uKS) was elevated for all ages, and negatively correlated with age. Higher uKS correlated with greater clinical impairment based on height z-scores, endurance and respiratory function tests. The MPS Health Assessment Questionnaire reveals impairments in mobility and activities of daily living in comparison to an age-matched control population.
  
  
  CONCLUSIONS
  MPS IVA is a multisystem disorder with a continuum of clinical presentation. All affected individuals experience significant functional limitations and reduced quality of life. Older patients have more severe exercise and respiratory capacity limitations, and more frequent cardiac pathology illustrating the progressive nature of disease.
authors: Children's Hospital & Research Center Oakland, Oakland, USA.
authors: Paul
authors: P
authors: Harmatz
authors: Karl Eugen
authors: KE
authors: Mengel
authors: Roberto
authors: R
authors: Giugliani
authors: Vassili
authors: V
authors: Valayannopoulos
authors: Shuan-Pei
authors: SP
authors: Lin
authors: Rossella
authors: R
authors: Parini
authors: Nathalie
authors: N
authors: Guffon
authors: Barbara K
authors: BK
authors: Burton
authors: Christian J
authors: CJ
authors: Hendriksz
authors: John
authors: J
authors: Mitchell
authors: Ana
authors: A
authors: Martins
authors: Simon
authors: S
authors: Jones
authors: Norberto
authors: N
authors: Guelbert
authors: Ashok
authors: A
authors: Vellodi
authors: Carla
authors: C
authors: Hollak
authors: Peter
authors: P
authors: Slasor
authors: Celeste
authors: C
authors: Decker
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D015444:Exercise; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007632:Keratan Sulfate / Q000652:urine; D008297:Male; D009043:Motor Activity; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology* / Q000652:urine; D010807:Physical Endurance; D011788:Quality of Life; D012129:Respiratory Function Tests; D011795:Surveys and Questionnaires; D014481:United States
chemical_list: D006025:Glycosaminoglycans; D007632:Keratan Sulfate