Continuous monitoring of MPS I progression is an essential part of disease management.1-5
Minimum Recommended Schedule of Assessments for MPS I Patients1-5
The Recommended Schedule of Assessments represents the core MPS I disease-related assessments that allow evaluations of a patient's disease progression over time. Physicians will determine the actual frequency of necessary assessments according to a patient's individualized need for medical care and routine follow-up.
Initital assessments | Every 6 months | Every 12 months | Every other year | |
General | ||||
Demographics | ■ | |||
Patient Diagnosisa | ■ | |||
Medical History | ■ | ■ | ||
Physical Examination | ■ | ■ | ||
General Appearance | ■ | ■ | ||
MPS I Disease Clinical Assessment | ||||
Neurologic/CNS | ||||
MRI of Brain | ■ | ■ | ||
MRI of Spine | ■ | ■ | ||
Medical Nerve Conduction Velocity | ■ | ■ | ||
Cognitive Testing (DQ/IQ) | ■ | ■ | ||
Opthalmologic | ||||
Visual Acuity | ■ | ■ | ||
Retinal Examination | ■ | ■ | ||
Corneal Examination | ■ | ■ | ||
Auditory | ||||
Audiometry | ■ | ■ | ||
Cardiac | ||||
Echocardiogram | ■ | ■ | ||
ECG | ■ | ■ | ||
Respiratoryb | ||||
FVC/FEV₁ | ■ | ■ | ||
Sleep Study | ■ | ■ | ||
Gastrointestinal | ||||
Spleen Volumec | ■ | ■ | ||
Liver Volumec | ■ | ■ | ||
Musculoskeletal | ||||
Skeletal Survey by X-rayd | ■ | ■ | ||
Vitals and Laboratory Tests | ||||
Height/Weight | ■ | ■ | ||
Head Circumferenced | ■ | ■ | ||
Blood Pressure | ■ | ■ | ||
Enzyme Activity Level | ■ | |||
Urinary GAG Level | ■ | ■ | ||
Urinalysis | ■ | ■ | ||
Functional Outcome Measurements | ||||
MPS Health Assessment Questionnaire, or other toolsb | ■ | ■ |
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 to 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 in one second; FVC=forced vital capacity; GAG=glycosaminoglycan; MPS I=mucopolysaccharidosis type I; MRI=magnetic resonance imaging.
Indication
Reference: 1. Berger KI et al. J Inherit Metab Dis. 2012;36(2):201-210. 2. Braunlin EA et al. J Inherit Metab Dis. 2011;34(6):1183-1197. 3. White KK. Rheumatology. 2011; 50 (Suppl 5):v26-v33. https://doi.org/10.1093/rheumatology/ker393 4. Muenzer J et al. Pediatrics. 2009; 123:19-29. 5. Pastores GM et al. Mol Genet Metab. 2007;91(1):37-47.