Table 2 PROMs measuring the concept of “HRQoL” in rare diseases: outcome rankings in study designs and disease specificity
Name of PRO questionnaire measuring concept of “HRQoL” | # of studies including this PROM | Study code in Clinicaltrials.gov | Study start date (YYYY/MM) | Therapeutic Indication | Primary outcome | Second-ary outcome | Rare disease specific PROM | Non-rare disease specific PROM | Generic PROM | Study-specific PROM |
|---|---|---|---|---|---|---|---|---|---|---|
Acromegaly Quality of Life Questionnaire (AcroQoL) | 1 | NCT02952885 | 2017/01 | Acromegaly | 1 | 1 | ||||
AddiQOL | 1 | NCT01063569 | 2010/02 | Addison’s Disease | 1 | 1 | ||||
Children’s Dermatology Life Quality Index (CDLQI) | 1 | NCT02860494 | 2017/01 | Facial Angiofibromas | 1 | 1 | ||||
Dermatology Life Quality Index (DLQI) adults | 2 | NCT02383589 | 2015/05 | Pemphigus Vulgaris | 1 | 1 | ||||
NCT02860494 | 2017/01 | Facial Angiofibromas | 1 | 1 | ||||||
Euroqol EQ-5D (EQ-5D) | 2 | NCT02839642 | 2016/05 | Progressive Supranuclear Palsy | 1 | 1 | ||||
NCT03023540 | 2017/03 | Charcot-Marie-Tooth Disease, Type IA | 1 | 1 | ||||||
Hemophilia-Specific Quality of Life Index for Adults (Haem-A-QoL) Questionnaire | 2 | NCT01027364 | 2009/12 | Severe Hemophilia B | 1 | 1 | ||||
NCT01181128 | 2010/11 | Severe Hemophilia A | 1 | 1 | ||||||
Hemophilia-Specific Quality of Life Index for Children (Haemo-QoL) Questionnaire | 1 | NCT01027364 | 2009/12 | Severe Hemophilia B | 1 | 1 | ||||
Kansas City Cardiomyopathy questionnaire (KCCQ) | 1 | NCT02590601 | 2016/01 | Peripartum Cardiomyopathy | 1 | 1 | ||||
Minnesota Living with Heart Failure Scale | 1 | NCT01416636 | 2009/03 | Non-operable Chronic Thromboembolic Pulmonary Hypertension | 1 | 1 | ||||
Not specified | 3 | NCT00376077 | 2005/08 | Immune Thrombocytopenic Purpura | 1 | 1 | ||||
NCT00811681 | 2008/12 | Friedreich’s Ataxia | 1 | 1 | ||||||
NCT01327274 | 2011/12 | Pectus Excavatum | 1 | 1 | ||||||
Patient Global Assessment of HRQL | 1 | NCT01940094 | 2014/02 | Granulomatosis With Polyangiitis | 1 | 1 | ||||
PedsQOL | 3 | NCT00432744 | 2007/01 | Mitochondrial Diseases | 1 | 1 | ||||
NCT01197378 | 2010/08 | Cystinosis | 1 | 1 | ||||||
NCT01268033 | 2010/12 | Childhood Idiopathic Nephrotic Syndrome | 1 | 1 | ||||||
PROMIS | 1 | NCT01940094 | 2014/02 | Granulomatosis With Polyangiitis | 1 | 1 | ||||
PSP-Quality of Life Scale | 1 | NCT02839642 | 2016/05 | Progressive Supranuclear Palsy | 1 | 1 | ||||
SF-36 | 7 | NCT00294671 | 2006/02 | Familial Amyloid Polyneuropathy; Familial Amyloidosis | 1 | 1 | ||||
NCT00879229 | 2009/07 | Idiopathic Pulmonary Fibrosis; Pulmonary Hypertension | 1 | 1 | ||||||
NCT01063569 | 2010/02 | Addison’s Disease | 1 | 1 | ||||||
NCT01197378 | 2010/08 | Cystinosis | 1 | 1 | ||||||
NCT01291433 | 2011/03 | Radiation Induced Brachial Plexopathy | 1 | 1 | ||||||
NCT01940094 | 2014/02 | Granulomatosis With Polyangiitis | 1 | 1 | ||||||
NCT02106520 | 2014/04 | Hereditary Hemorrhagic Telangiectasia; Epistaxis | 1 | 1 | ||||||
St. George’s Respiratory Questionnaire (SRGQ) | 1 | NCT00879229 | 2009/07 | Idiopathic Pulmonary Fibrosis; Pulmonary Hypertension | 1 | 1 | ||||
The Behçet’s Disease Quality of Life (BD-QoL) | 1 | NCT02307513 | 2014/12 | Behçet Syndrome | 1 | 1 | ||||
World Health Organization (WHO) quality of life questionnaire (WHOQOL-BREF) | 1 | NCT02590601 | 2016/01 | Peripartum Cardiomyopathy | 1 | 1 | ||||
Totala | 31 | – | – | – | 1 | 30 | 7 | 6 | 15 | 3 |