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Table 2 Suggested schedule

From: The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

Procedure

Registry inclusion visit (~ –7 days)

Registry baseline visit (time 0)

Unscheduled follow-up routine clinical visita

Six-month follow-up routine clinical visitsb

Yearly follow-up routine clinical visits

Administrative

     

Informed consent form

X

Xc

   

Inclusion/exclusion criteria

X

Xc

   

Medical and disease history (including disease onset, residual enzymatic activity, genotype mutations, bone marrow transplantation) and concomitant illnesses

X

Xc,d

   

Previous and concomitant medications, including VA in hospital or home infusion setting

 

Xd

X

X

X

Concomitant procedures

X

X

X

X

X

Physical examinatione (vital signs and anthropometric measurements, including rate of growth)

 

X

X

X

X

Demographics

X

Xc

   

Administration of medication

     

VA therapy, in hospital or home infusion settingf

 

X

X

X

X

Assessmentsg

     

Standard hematological testsh

 

X

X

 

X

Laboratory chemistryi

 

X

X

 

X

Anti-VA-IgG antibody (ADA)j

 

X

X

 

X

Oligosaccharides in serumj

 

X

X

 

X

Serum IgG, IgA, IgMj

 

X

X

 

X

3MSCT, when applicablek

 

X

  

X

6MWT, when applicablek

 

X

  

X

2MWT, when applicablel

 

X

  

X

FVC (L and % of predicted)

 

X

X

 

X

Electrocardiogram

 

X

X

 

X

Hearing test (PTA)

 

X

X

  

Psychotic events

 

X

X

 

X

AEs/ADRsm

X

X

X

X

X

Health Assessment Questionnaires

     

EQ-5D-5L

 

X

  

X

Zarit Burden Interview

 

X

  

X

CHAQ

 

X

  

X

Behavior checklistsn

 

X

  

X

  1. 3MSCT3-min stair climbing test, 2MWT2-min walk test, 6MWT6-min walk test, ABCL Adult Behavior Checklist, AE adverse event, ADA alfa-immunoglobulin G antibody, ADR adverse drug reaction, ALP alkaline phosphatase, ALT alanine aminotransferase, ASR Adult Self-Report, AST aspartate transaminase, CBCL Child Behavior Checklist, CHAQ Childhood Health Assessment Questionnaire, FVC forced vital capacity, Ig immunoglobulin, L liter, LDH lactate dehydrogenase, OABCL Older Adult Behavior Checklist, PTA pure tone audiometry, RMP risk management plan, VA velmanase alfa
  2. Actual assessments performed per participating center Standard Operating Procedures
  3. aUnscheduled follow-up visits can be performed at, but not limited to, 3 months after VA treatment start, or whenever deemed appropriate according to treating physician’s judgment for patients who start VA treatment within 1 year prior to Registry inclusion
  4. bAdditional follow-up visit after 6 months is highly recommended for patients who start VA treatment within 1 year prior to registry inclusion
  5. cIf not taken or collected at registry inclusion visit
  6. dPatients’ retrospective data may be collected at the time of registry enrolment if available. Baseline visits are recommended to be repeated for those patients who will start VA therapy during the course of the study, before therapy is initiated
  7. ePhysical examination to collect vital signs, anthropometric measurements like height, weight, rate of growth, and the ability to perform the endurance test at the study visit
  8. fIf applicable, information regarding weekly VA therapy received by the patient need to be recorded within all the registry duration
  9. gAll assessments mentioned in the above table will be collected only if considered necessary and available as part of routine clinical practice by the treating physician; no additional tests specific to the registry will be done
  10. hStandard test for hematology assessed by local laboratory if available per clinical practice of the site: hemoglobin, hematocrit, platelet count, red blood cells, and white blood cells with differential count (all expressed in %, as well as in absolute numbers)
  11. iStandard test for hematology assessed by local laboratory if available per clinical practice: serum electrolytes, creatinine, creatine-kinase, amylase, AST, ALT, ALP, albumin, bilirubin (total and direct), LDH
  12. jThe markers (oligosaccharides in serum, IgG, IgA, and ADA) will be evaluated through a central laboratory in European countries other than Germany. In Germany, marker testing will take place according to local routine clinical practice
  13. kIn patients 4 years and older, and when applicable according to the judgment of treating physician
  14. lIn patients under 4 years of age and when applicable according to the judgment of treating physician
  15. mAEs/ADRs based on all risk categories associated with VA European RMP, including infusion-related reactions and hypersensitivity (as identified risks), acute renal failure, loss of consciousness and medication errors (as potential risks). Data on pregnancy (including birth and newborn data) and lactation (as missing information) will be also collected if available
  16. nOne of the behavior checklists (CBCL pre-scholar/scholar, ABCL/ASR [self-reporting], OABCL) will be used to the applicable age and according to the judgment of treating physician
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172