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

Table 3 Clinical scores and measurement tools recommended to collect in MLD patients

Clinical scoring systems	Versions	Age groups (years)	Population (development and validation)	Used in MLD before
GMFC-MLD [27]	1 version	1.5–18, [>18]	MLD patients	Yes [7, 9,10,11,12, 31,32,33,34,35,36,37,38,39,40]
ELFC-MLD [28]	1 version	1.5–18, [>18]	MLD patients	Yes [10, 27, 28, 34]
EDACS [29]	1 version	2–21, [>21]	CP patients	Yes [40,41,42]
MACS [30]	MACS Mini-MACS	4–18, [>18] 1–4	CP patients	Yes, unpublished

Measurement tools	Versions	Age groups (years)	Population (development and validation)	Used in MLD before
IQ	Many different tools	> 2.5	Non-specific populations	Yes, frequently*
MMSE [43]	1 version	> 18	Non-specific adult populations	Yes, unpublished
GMFM-88 [44]	GMFM-88 & GMFM-66	0.4–16, [> 16]	Non-specific pediatric populations	Yes [45,46,47]
SARA [48]	1 version	[≥ 3], > 8	Different SCA- and non-SCA populations with ataxia	Yes, unpublished

PROMs	Versions	Age groups (years)	Population (development and validation)	Used in MLD before
EQ5D/5L and EQ5D-Y [49,50,51]	Modes of administration (self-assessment, interviewer-administered, and proxy), age groups	4–7, 8–15, > 15	Non-specific populations	No
HUI3 [52]	Modes of administration (self-assessment, interviewer- administered, and proxy)	> 1	Non-specific populations	No
PedsQL [53, 54]	Age groups	2–4, 5–7, 8–12, 13–18	Non-specific pediatric populations	Yes [55]**

[between square brackets] = not validated. Underlined = core data element, italic = optional data element
*No references added because a lot of heterogeneity in used scales and sometimes only total IQ was reported without the used scale
**Only the PedsQL Family Impact Module is used
CP cerebral palsy, EDACS Eating- and Drinking Ability Classification System, ELFC-MLD Expressive Language Function Classification for MLD, EQ5D/5L EuroQoL5D/5L, EQ5D-Y EuroQoL5D-Youth, GMFC-MLD Gross Motor Function Classification for MLD, GMFM-88 Gross Motor Function Measure-88, HUI3 Health Utilities Index 3, IQ intelligence quotient, MACS Manual Ability Classification System, MLD metachromatic leukodystrophy, MMSE Minimal Mental State Examination, PedsQL Pediatric Quality of Life Inventory, PROMs Patient Reported Outcome Measures, SARA Scale for the Assessment and Rating of Ataxia, SCA spinocerebellar ataxia

ISSN: 1750-1172