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Table 2 PROMs measuring the concept of “HRQoL” in rare diseases: outcome rankings in study designs and disease specificity

From: To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases

Name of PRO questionnaire measuring concept of “HRQoL”# of studies including this PROMStudy code in Clinicaltrials.govStudy start date (YYYY/MM)Therapeutic IndicationPrimary outcomeSecond-ary outcomeRare disease specific PROMNon-rare disease specific PROMGeneric PROMStudy-specific PROM
Acromegaly Quality of Life Questionnaire (AcroQoL)1NCT029528852017/01Acromegaly1 1   
AddiQOL1NCT010635692010/02Addison’s Disease 11   
Children’s Dermatology Life Quality Index (CDLQI)1NCT028604942017/01Facial Angiofibromas 1 1  
Dermatology Life Quality Index (DLQI) adults2NCT023835892015/05Pemphigus Vulgaris 1 1  
NCT028604942017/01Facial Angiofibromas 1 1  
Euroqol EQ-5D (EQ-5D)2NCT028396422016/05Progressive Supranuclear Palsy 1  1 
NCT030235402017/03Charcot-Marie-Tooth Disease, Type IA 1  1 
Hemophilia-Specific Quality of Life Index for Adults (Haem-A-QoL) Questionnaire2NCT010273642009/12Severe Hemophilia B 11   
NCT011811282010/11Severe Hemophilia A 11   
Hemophilia-Specific Quality of Life Index for Children (Haemo-QoL) Questionnaire1NCT010273642009/12Severe Hemophilia B 11   
Kansas City Cardiomyopathy questionnaire (KCCQ)1NCT025906012016/01Peripartum Cardiomyopathy 1 1  
Minnesota Living with Heart Failure Scale1NCT014166362009/03Non-operable Chronic Thromboembolic Pulmonary Hypertension 1 1  
Not specified3NCT003760772005/08Immune Thrombocytopenic Purpura 1   1
NCT008116812008/12Friedreich’s Ataxia 1   1
NCT013272742011/12Pectus Excavatum 1   1
Patient Global Assessment of HRQL1NCT019400942014/02Granulomatosis With Polyangiitis 1  1 
PedsQOL3NCT004327442007/01Mitochondrial Diseases 1  1 
NCT011973782010/08Cystinosis 1  1 
NCT012680332010/12Childhood Idiopathic Nephrotic Syndrome 1  1 
PROMIS1NCT019400942014/02Granulomatosis With Polyangiitis 1  1 
PSP-Quality of Life Scale1NCT028396422016/05Progressive Supranuclear Palsy 11   
SF-367NCT002946712006/02Familial Amyloid Polyneuropathy; Familial Amyloidosis 1  1 
NCT008792292009/07Idiopathic Pulmonary Fibrosis; Pulmonary Hypertension 1  1 
NCT010635692010/02Addison’s Disease 1  1 
NCT011973782010/08Cystinosis 1  1 
NCT012914332011/03Radiation Induced Brachial Plexopathy 1  1 
NCT019400942014/02Granulomatosis With Polyangiitis 1  1 
NCT021065202014/04Hereditary Hemorrhagic Telangiectasia; Epistaxis 1  1 
St. George’s Respiratory Questionnaire (SRGQ)1NCT008792292009/07Idiopathic Pulmonary Fibrosis; Pulmonary Hypertension 1 1  
The Behçet’s Disease Quality of Life (BD-QoL)1NCT023075132014/12Behçet Syndrome 11   
World Health Organization (WHO) quality of life questionnaire (WHOQOL-BREF)1NCT025906012016/01Peripartum Cardiomyopathy 1  1 
  1. a The total number of studies including PROMs is 31 and not 22 because some studies included more than one PRO in their study design
  2. Source: database search