罕见病的社会经济影响：中等收入国家的证据分析.docxVIP

Thesocioeconomicimpactofrare

diseases:Ananalysisoftheevidenceinmiddle-incomecountries

October2024

charlesRivrCRAA

charlesRivr

CRAASCiat

Ananalysisoftheevidenceinmiddle-incomecountries

Pagei

TableofContents

ExecutiveSummary ii

Glossary viii

Acknowledgments x

1.Introduction 1

1.1Context:Theglobaldebateonrarediseases 1

1.2Anoverviewoftheglobalevidenceonthesocioeconomicimpactofrarediseases 2

1.3Thevalueofstudyingthesocioeconomicimpactofrarediseasesinmiddle-income

countries 3

1.4Structureofthereport 5

2.Theresearchapproach 6

2.1Frameworktocharacterizesocioeconomicimpact 6

2.2Rarediseasesandcountriesincludedinthestudy 6

2.3Literaturereviewandapproachtodatacollection 9

3.Evidenceandfindingsfromtheanalysisofthesocioeconomicimpact 10

3.1Finding1:Existinginformationonthesocioeconomicimpactofrarediseasesislimited,

particularlyinMICs 10

3.2Finding2:TheprevalenceofrarediseasesisunderestimatedinMICs 12

3.3Finding3:Theestimatedimpactofrarediseasesissignificantacrossallcountries,

regardlessoftheirincomelevel 17

3.4Finding4:Therearedifferencesinthecompositionofdirectandindirectcostsacross

diseasesandcountries,whicharedrivenbyaccesstocareforrarediseases 18

3.5Finding5:Theimpactonpatientcaregiverexperienceischallengingtoquantifybutremains

critical 29

4.Conclusions:Cross-cuttingthemes 32

A.1Outputsfromtheestimationofthesocioeconomicburden 45

A.2Sourcesusedtodefinethesocioeconomicframeworkandtoestimate

socioeconomicburden 48

charlesRivrCRAA

charlesRivr

CRAASCiat

Ananalysisoftheevidenceinmiddle-incomecountries

Pageii

ExecutiveSummary

Worldwide,itisestimatedthatover300millionpersonsarelivingwithoneormoreofthe6,000to

8,000ident