MONITORING
Continuous monitoring of MPS I progression is an essential part of disease management1
All tests requiring sedation are recommended only if sedation is considered to be safe for the patient.
aDiagnosis would include genotype, if available.
bMay not be possible in noncooperative patients or patients <5-6 years of age.
cThe recommended method for obtaining organ volumes is MRI or CT to enable quantitative analysis; however, if in the opinion of the investigator it is unsafe to sedate the patient, then ultrasound may be substituted.
dThese assessments will be measured in pediatric patients only, unless determined otherwise by the treating physician.
CNS = central nervous system; DQ/IQ = developmental quotient/intellectual quotient; ECG = electrocardiogram; FEV1 = forced expiratory volume 1st second; FVC = forced vital capacity; GAG = glycosaminoglycan; MPS I = mucopolysaccharidosis type I; MRI = magnetic resonance imaging.
Reference: 1. Pastores GM, Arn P, Beck M, et al. The MPS I Registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab. 2007;91(1):37-47.