Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Pinós, Tomàs; Andreu, Antoni L.; Bruno, Claudio; Hadjigeorgiou, Georgios M.; Haller, Ronald G.; Laforêt, Pascal; Lucía, Alejandro; Martín, Miguel A.; Martinuzzi, Andrea; Navarro, Carmen; Oflazer, Piraye; Pouget, Jean; Quinlivan, Ros; Sacconi, Sabrina; Scalco, Renata S.; Toscano, Antonio; Vissing, John; Vorgerd, Matthias; Wakelin, Andrew; Martí, Ramon

doi:10.1186/s13023-020-01455-z

Orphanet Journal of Rare Diseases

Table 3 List of variables included in the EUROMAC registry applicative^a

From: Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

	Type of field	Optional/Required field	Field accessible by patients
Personal data^b
Firs name	To fill	Required	Yes
Last name	To fill	Required	Yes
Email address	To fill	Optional	Yes
Date of birth	Date	Required	Yes
Phone number	To fill	Optional	Yes
City of birth	To fill	Required	Yes
Country of birth	Dropdown menu	Required	Yes
City of residence	To fill	Optional	Yes
Country of residence	Dropdown menu	Optional	Yes
Sex	Male/Female choice	Required	Yes
Height (cm)	To fill	Optional	Yes
Weight (kg)	To fill	Optional	Yes
1.Demographic data^c
Case code	Automatically generated	Required	No
Age	Generated from personal data	Required	Yes
Country of birth	Generated from personal data	Required	Yes
Sex	Generated from personal data	Required	Yes
Height	Generated from personal data	Optional	Yes
Weight	Generated from personal data	Optional	Yes
Body mass index	Generated from personal data	Optional	Yes
2.Diagnosis
First diagnostic centre	Dropdown menu	Required	No
Diagnosing age	To fill	Required	No
Diagnosed disease	Dropdown menu	Required	No
Diagnosing through biopsy	Yes/No choice	Required	No
Diagnosing through genetic testing	Yes/No choice	Required	No
Genetic mutations	Allele 1 Dropdown menu	Required	No
Genetic mutations	Allele 2 Dropdown menu	Required	No
Reference sequence used	To fill	Optional	No
3.Clinical data
Second wind	Yes/No/NA choice	Required	Yes
Myoglobinuria	Yes/No/NA choice	Required	Yes
Systems with disease (affected organs)	Dropdown menu	Required	No
Difficulties in maintaining physical activities	Yes/No choice	Required	No
Weakness	Yes/No choice	Required	No
Muscle wasting	Yes/No choice	Required	No
Disease severity	Dropdown menu	Optional	No
Lab data
Forearm test	Performed/Not performed	Required	No
Basal serum CK levels	To fill	Optional	No
Other tests (specify)	To fill	Optional	No
Exercise testing
VO₂ peak	To fill	Optional	No
%HRmax predicted	To fill	Optional	No
VO2 peak power output	To fill	Optional	No
Lab demonstrated second wind	To fill	Optional	No
Other tests (specify)	To fill	Optional	No
4.Concomitant diseases
Diabetes	Yes/No/NA choice	Optional	No
Coronary Artery Disease	Yes/No/NA choice	Optional	No
Hypertension	Yes/No/NA choice	Optional	No
Cancer	Yes/No/NA choice	Optional	No
COPD	Yes/No/NA choice	Optional	No
Acute renal failure	Yes/No/NA choice	Optional	No
Chronic renal failure	Yes/No/NA choice	Optional	No
Hyperuricemia or Gout	Yes/No/NA choice	Optional	No
Anemia or Hyperbilirubinemia	Yes/No/NA choice	Optional	No
Other comorbidity	To fill	Optional	No
5.Other genetic factors
ACE Genotype	I/I, I/D, D/D or N/D choice	Optional	No
ACTN3 Genotype	R/R, R/X, X/X or N/D choice	Optional	No
AMPD1 Genotype	Q/Q, Q/X, X/X or N/D choice	Optional	No
PGC Genotype	G/G, G/S, S/S or N/D choice	Optional	No
Other Genotype	To fill	Optional	No
6.Self-reported functional data
Limitations	Yes/No/NA choice	Optional	Yes
WHO DAS 2.0	To fill (Score)	Optional	Yes
QOL SF 36	To fill (Score)	Optional	Yes
QOL Bouchard	To fill (Score)	Optional	Yes
IPAQ	To fill (Score)	Optional	Yes
FSS	To fill (Score)	Optional	Yes
Other (specify)	To fill	Optional	Yes
7.Previous/ongoing treatments
Drugs
Pain Relief	Yes/No/NA choice	Optional	Yes
ACE Inhibitors	Yes/No/NA choice	Optional	Yes
Diuretics	Yes/No/NA choice	Optional	Yes
Cardiovascular Drugs	Yes/No/NA choice	Optional	Yes
Insulin or Antidiabetics	Yes/No/NA choice	Optional	Yes
Muscle Relaxants	Yes/No/NA choice	Optional	Yes
Psychoactive Drugs	Yes/No/NA choice	Optional	Yes
Allopurinol:	Yes/No/NA choice	Optional	Yes
Other (specify)	To fill	Optional	Yes
Special diet
Sucrose	Yes/No/NA choice	Optional	Yes
Carbohydrate rich	Yes/No/NA choice	Optional	Yes
Protein rich	Yes/No/NA choice	Optional	Yes
Lipid rich	Yes/No/NA choice	Optional	Yes
Other (specify)	To fill	Optional	Yes
Supplements
B6	Yes/No/NA choice	Optional	Yes
Creatine	Yes/No/NA choice	Optional	Yes
CoQ or Idebenone	Yes/No/NA choice	Optional	Yes
Other vitamins	Yes/No/NA choice	Optional	Yes
BCAA	Yes/No/NA choice	Optional	Yes
Carnitine	Yes/No/NA choice	Optional	Yes
Other (specify)	Yes/No/NA choice	Optional	Yes
Rehabilitation program	Yes/No/NA choice	Optional	Yes
Other treatments (specify)	To fill	Optional	Yes
8.Services provided
Currently working	Yes/No/NA choice	Optional	Yes
Benefited from specific healthcare	Yes/No/NA choice	Optional	Yes
Changed job because disease	Yes/No/NA choice	Optional	Yes
Employer modified environment because disease	Yes/No/NA choice	Optional	Yes

Abbreviations: ACE Angiotensin-converting enzyme, ACTN3 Alpha-actinin-3, AMPD1 Adenosine monophosphate deaminase 1, BCAA Branched chain amino acids, CK Creatine kinase, CoQ Coenzyme Q, COPD Chronic obstructive pulmonary disease, FSS Fatigue severity scale, HR Heart rate, IPAQ International physical activity questionnaire, PGC Progastricsin, QOL SF36 The 36-Item Short Form Health Survey questionnaire, VO2 peak Peak oxygen uptake, WHO DAS 2.0 World Health Organization Disability Assessment Schedule 2.0
^a For most variables with “Yes/No (NA) choice”, if answer is “Yes”, new field(s) with additional related questions open (e.g., if “Myoglobinuria = yes”, then an additional field: “Frequency” opens; if “Muscle weakness = yes”, then new fields open asking for affected muscles and severity; if the answer for a specific treatment is “Yes”, new fields open asking for frequency of use and whether it was beneficial or not)
^b All data introduced in “Personal Data” section is encrypted and not available for anybody, except for the physician who registered this particular patient
^c Demographic data is automatically generated from the data introduced in the section of personal data

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ISSN: 1750-1172

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