Skip to main content

Table 2 Minimal set

From: Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

Minimal data element

Coding

Approximate date of birth

mm/yyyy

Sex at birth

Male, female, unknown

Survival status

Alive, deceased, loss to follow-up, opted-out

> date of death/loss to follow-up/opted-out

Name or country of specialized center

Specify center

Confirmed diagnosis (checkboxes)

Yes > genetically + clinically, enzymatically + genetically, enzymatically + urinary sulfatides

OMIM diagnosis

250,100, 249,900, 272,200

Approximate date of diagnosis (age at diagnosis)

mm/yyyy

if unknown: antenatal, at birth, childhood, adult

Approximate date at symptom manifestation (age at symptom onset)

Pre-symptomatic, age in years and months

Relevant other diagnosis/comorbidity

No, Yes > specify other (inherited) important conditions/prenatal history

Inclusion of the patient in the registry is allowed

Yes consent was given, no but exceptional* circumstances apply

Agreement to be contacted for research purposes

Yes, no, missing, not applicable

Biological sample

Yes, no, unknown

Link or information to a biobank

If applicable: free text

  1. *Exceptional circumstances include consent was given for another registry/database/reuse of data, or a patient is deceased and inclusion in the registry will likely not harm the patient or his/her relatives