MANAGING FABRY DISEASE REQUIRES TEAMWORK.

Patients 18 Years of Age and Younger²*

The Recommended Schedule of Assessments represents the core Fabry disease-related assessments that allow evaluation 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. This is not a comprehensive list of recommended assessments. For additional information, please contact your Sanofi Representative.

These recommendations were developed by the Fabry Registry Board of Advisors, a group of physicians who have experience in managing patients with Fabry disease. The Fabry Registry is sponsored and administered by Sanofi

* Initiation of Laboratory Tests, Imaging, and Other Studies: There is variability in the clinical complications and progression of Fabry disease. Children are at risk for life-threatening complications. There are no biomarkers available to discern mildly affected from severely affected patients. In children with a family history of early presenting or severe disease, complete evaluations should be done at the time of diagnosis. Other patients should be completely evaluated at no later than 5 years of age.

a   Patients are recommended to undergo these evaluations every 6 months; for those with milder disease, once per year may be sufficient.
b   Blood pressure should be measured 3 times at each assessment; only the last 2 measurements should be recorded.
c   GFR should be measured directly every 24-36 months until age 15, and annually thereafter. If direct measurement is not possible, serum creatinine levels should be obtained at the recommended intervals for an estimation of GFR, which is a less sensitive method.
d   First morning voided urine for protein, albumin, and creatinine in order to calculate a protein/creatinine ratio and albumin/creatinine ratio. Protein, albumin, and creatinine measurements can also be performed on timed samples (e.g., 24 hours).
e    Audiologic evaluation should be performed at the earliest age that is practical.
f    Cranial MRIs should be performed at ages 10, 15, and 18 years.
      f1  At the time of a cerebrovascular event, a cranial MRI should also include diffused weighted images and apparent diffusion coefficient (DWI/ADC).
g   Electrocardiogram should be performed starting at age 10-12 years. If abnormal and/or clinical symptoms arise, Holter monitoring is recommended.
h   Echocardiogram should be performed starting at age 10-12 years.
i    Cardiac MRI is recommended to be performed in patients under age 25 if cardiac hypertrophy significant arrhythmia is present.
j    Monitor yearly if retinal vessel tortuosity is noted.
 

The Recommended Schedule of Assessments represents the core Fabry disease-related assessments that allow evaluation 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.

a   Directly measuring glomerular filtration rate (GFR) is recommended if a more precise evaluation is desired.
b   24-hour or first morning void urine for protein, creatinine, and albumin.
c    At the time of an event, a cranial MRI should also include DWI/ADC.
d   If electrocardiogram is abnormal and/or clinical symptoms arise, Holter monitoring is recommended.
e    Annual 24-hour Holter monitoring is recommended for males 30 years of age or older and females 40 years of age or older.
f   Cardiac MRI is recommended at Fabry diagnosis for patients ages 25 and older. It is recommended to be performed under age 25 if cardiac hypertrophy or significant arrhythmia is present.
     f1 If first MRI is abnormal: 1) patients with moderate or severe LVH receiving ERT should have MRI annually; 2) patients with significant arrhythmia should have MRI at least every 2 years or at frequency factoring cardiac disease severity and the physician's clinical judgment; 3) males with no or mild LVH zreceiving ERT should have MRI every 2 years.
      f2 If first MRI is normal, repeat every 5 years or earlier if ECG/ECHO results are abnormal on annual exam.
g   If spirometry is abnormal, perform yearly.
h   Monitor yearly if retinal vessel tortuosity noted.