Background
Methods
Systematic review to identify clinical studies and rare diseases with disease-specific disease-severity scales
Indicators in a clinical study | Indicators within DSS | Indicators outside DSS |
---|---|---|
Included | Overlap (a) | Redundant (b) |
Excluded | Missing (c) | Irrelevant (d) |
Total | (a + c) | (b + d) |
Neutrality (accuracy) | Sensitivity: a/a + c | Specificity: d/b + d |
Rare diseases with one disease-specific severity scale and those with more than one
Using Neutral theory to determine the accuracy of clinical study disease measurement
Results
Rare diseases and clinical studies with one disease-specific disease severity scale
Disease | Disease-specific DSS | Number of indicators |
---|---|---|
Achalasia | Eckardt Score | 40 |
Behcet’s syndrome | Krause's Behçet's Disease Activity Assessment | 38 |
Creutzfeldt-Jakob disease | Creutzfeldt-Jakob Disease Neurological Status Scale | 29 |
Fournier’s gangrene | Fournier’s Gangrene Severity Index | 20 |
Guillain-Barré syndrome | Guillain-Barré Rating Scale | 20 |
Atypical hemolytic uremic syndrome | Pediatric Neurologic Assessment Score for Hemolytic Uremic Syndrome | 28 |
Palmoplantar psoriasis | Palmoplantar Psoriasis Area and Severity Index | 3 |
Prader-Willi syndrome | Prader-Willi Syndrome Behavioral Questionnaire | 39 |
Systemic lupus erythematosus | Lupus Severity Index | 48 |
Systemic sclerosis | Modified Rodnan Skin Score | 38 |
Rare diseases and clinical studies with more than one disease-specific disease severity scale
Disease | First disease-specific DSS | Composite disease-specific DSS |
---|---|---|
[total number of indicators] | [total number of indicators, number of duplicates excluded] | |
Acromegaly | Clinical Activity Score of Acromegaly (1992) [17] | Clinical Activity Score of Acromegaly (1992) |
Acroscore (2015) | ||
ACRODAT® (2017) [3, 26] | ||
Amyotrophic lateral sclerosis | Appel ALS Rating Scale (1987) [20] | Appel ALS Rating Scale (1987) |
Amyotrophic Lateral Sclerosis Severity Score (1989) | ||
Modified Norris Scale (1996) | ||
Amyotrophic Lateral Sclerosis Functional Rating Scale (1999) | ||
Amyotrophic Lateral Sclerosis Utility Index (2005) | ||
Japan ALS Severity Classification (2012) [71, 7] | ||
Charcot Marie Tooth disease | Charcot-Marie-Tooth Neuropathy Score (2007) [9] | Charcot-Marie-Tooth Neuropathy Score (2007) |
CMT Neuropathy Score (2011) | ||
CMT Examination Score (2011) | ||
CMT Pediatric Scale (2012) | ||
Mobility-Disability Severity Index (2014) [16, 26] | ||
Cystic fibrosis | The Shwachman-Kulczycki Score (1958) [20] | The Shwachman-Kulczycki Score (1958) |
Brasfield Score (1979) | ||
Cystic Fibrosis Clinical Score (1999) | ||
Matouk Clinical Score (2004) | ||
Chrispin–Norman Score (2005) [61, 10] | ||
Encephalitis | The Status Epilepticus Severity Score (2008) [4] | The Status Epilepticus Severity Score (2008) |
END IT Score (2016) | ||
The Epidemiology-Based Mortality Score in Status Epilepticus (2015) | ||
The Clinical Assessment Scale in Autoimmune Encephalitis (2019) [43, 2] | ||
Fabry disease | The Mainz Severity Score Index (2003) [25] | The Mainz Severity Score Index (2003) |
FD Severity Scoring System (2009) [37, 0] | ||
Friedreich ataxia | The International Cooperative Ataxia Rating Scale (1997) [24] | The International Cooperative Ataxia Rating Scale (1997) |
The Scale for the Assessment and Rating of Ataxia (2004) | ||
Friedreich Ataxia Rating Scale (2010) [50, 6] | ||
Gaucher disease type I | Gaucher Disease Severity Score Index – Type I (2008) [15] | Gaucher Disease Severity Score Index – Type I (2008) |
The Disease Severity Scoring System (2015) [1, 25] | ||
Huntington’s disease | The Unified Huntington’s Disease Rating Scale Motor Score (2013) [7] | The Unified Huntington’s Disease Rating Scale Motor Score (2013) |
Problem Behaviors Assessment for Huntington Disease (2015) [18, 0] | ||
Juvenile rheumatoid arthritis | Clinical Disease Activity Index for RA (2005) [4] | Clinical Disease Activity Index for RA (2005) |
Juvenile Arthritis Disease Activity Score (2009) [8, 0] | ||
Sjogren’s syndrome | EULAR Sjögren’s Syndrome Disease Activity Index (2010) [6] | EULAR Sjögren’s Syndrome Disease Activity Index (2010) [6] |
The Sjögren’s International Collaborative Clinical Alliance Ocular Staining Score (2015) [11, 0] | ||
Tourette syndrome | Yale Global Tic Severity Scale (1977) [15] | Yale Global Tic Severity Scale (1977) [15] |
The Shapiro Tourette Syndrome Severity Scale Score (2004) | ||
Premonitory Urge for Tic Disorders Scale (2012) [28, 0] |
Match between clinical study endpoints and disease phenotype for rare diseases with one disease-specific disease severity score
Rare disease | Number of papers | Neutrality | |
---|---|---|---|
Most Neutral Study | Least Neutral Study | ||
Achalasia | 27 | 2.00 (1.00, 1.00) | 0.86 (0.00, 0.86) |
Behcet’s disease | 21 | 1.10 (0.10, 1.00) | 0.61 (0.00, 0.61) |
Creutzfeldt-Jakob disease | 5 | 0.87 (0.12, 0.75) | 0.75 (0.00, 0.75) |
Fournier’s gangrene | 5 | 2.00 (1.00, 1.00) | 0.45 (0.00, 0.45) |
Guillain–Barre syndrome | 6 | 1.80 (0.91, 0.89) | 0.33 (0.00, 0.33) |
Atypical hemolytic uremic syndrome | 6 | 0.71 (0.08, 0.62) | 0.44 (0.00, 0.44) |
Palmoplantar pustulosis | 5 | 2.00 (1.00, 1.00) | 0.00 (0.00, 0.00) |
Prader-Willi syndrome | 8 | 1.02 (0.11, 091) | 0.49 (0.04, 0.45) |
Systemic lupus erythematosus | 22 | 2.00 (1.00, 1.00) | 0.83 (0.04, 0,79) |
Systemic sclerosis | 28 | 2.00 (1.00, 1.00) | 0.82 (0.00, 0.82) |
Rare disease | Number of papers | Average neutrality | |
---|---|---|---|
First DSS only | Composite DSS | ||
Acromegaly | 30 | 0.899 (0.029, 0.870) | 1.034 (0.110, 0.923) |
Amyotrophic lateral sclerosis | 81 | 1.044 (0.109, 0.935) | 1.138 (0.166, 0.972) |
Charcot Marie tooth | 12 | 1.371 (0.472, 0.898) | 1.117 (0.215, 0.902) |
Cystic fibrosis | 156 | 0.991 (0.008, 0.983) | 1.013 (0.026, 0.987) |
Encephalitis | 12 | 0.956 (0.000, 0.956) | 0.905 (0.000, 0.905) |
Fabry disease | 15 | 0.935 (0.039, 0.896) | 1.018 (0.105, 0.913) |
Friedreich ataxia | 18 | 1.102 (0.299, 0.803) | 1.248 (0.344, 0.904) |
Gaucher type I | 15 | 0.969 (0.142, 0.851) | 0.943 (0.112, 0.831) |
Huntington’s disease | 32 | 1.456 (0.500, 0.956) | 1.162 (0.205, 0.957) |
Juvenile rheumatoid arthritis | 39 | 0.983 (0.032, 0.951) | 1.109 (0.147, 0.962) |
Sjogren’s syndrome | 37 | 1.323 (0.401, 0.922) | 1.146 (0.224, 0.922) |
Tourette’s syndrome | 36 | 1.784 (0.837, 0.946) | 1.395 (0.448, 0.946) |