A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

R.M. Leadley, S. Lang, K. Misso, T. Bekkering, J. Ross, T. Akiyama, M. Fietz, R. Giugliani, C.J. Hendriksz, N.L. Hock, J. McGill, A. Olaye, M. Jain, J. Kleijnen

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Abstract

Background: Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan. Purpose: To prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases. Methods: Medline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively. Results: In total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50%) and 9 provided data (23%). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity. Conclusions: The review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.
Original languageEnglish
Article number173
JournalOrphanet Journal of Rare Diseases
Volume9
DOIs
Publication statusPublished - 1 Jan 2014

Cite this

Leadley, R.M. ; Lang, S. ; Misso, K. ; Bekkering, T. ; Ross, J. ; Akiyama, T. ; Fietz, M. ; Giugliani, R. ; Hendriksz, C.J. ; Hock, N.L. ; McGill, J. ; Olaye, A. ; Jain, M. ; Kleijnen, J. / A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. In: Orphanet Journal of Rare Diseases. 2014 ; Vol. 9.
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title = "A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases",
abstract = "Background: Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan. Purpose: To prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases. Methods: Medline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively. Results: In total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50{\%}) and 9 provided data (23{\%}). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity. Conclusions: The review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.",
author = "R.M. Leadley and S. Lang and K. Misso and T. Bekkering and J. Ross and T. Akiyama and M. Fietz and R. Giugliani and C.J. Hendriksz and N.L. Hock and J. McGill and A. Olaye and M. Jain and J. Kleijnen",
year = "2014",
month = "1",
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doi = "10.1186/s13023-014-0173-x",
language = "English",
volume = "9",
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Leadley, RM, Lang, S, Misso, K, Bekkering, T, Ross, J, Akiyama, T, Fietz, M, Giugliani, R, Hendriksz, CJ, Hock, NL, McGill, J, Olaye, A, Jain, M & Kleijnen, J 2014, 'A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases', Orphanet Journal of Rare Diseases, vol. 9, 173. https://doi.org/10.1186/s13023-014-0173-x

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases. / Leadley, R.M.; Lang, S.; Misso, K.; Bekkering, T.; Ross, J.; Akiyama, T.; Fietz, M.; Giugliani, R.; Hendriksz, C.J.; Hock, N.L.; McGill, J.; Olaye, A.; Jain, M.; Kleijnen, J.

In: Orphanet Journal of Rare Diseases, Vol. 9, 173, 01.01.2014.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

AU - Leadley, R.M.

AU - Lang, S.

AU - Misso, K.

AU - Bekkering, T.

AU - Ross, J.

AU - Akiyama, T.

AU - Fietz, M.

AU - Giugliani, R.

AU - Hendriksz, C.J.

AU - Hock, N.L.

AU - McGill, J.

AU - Olaye, A.

AU - Jain, M.

AU - Kleijnen, J.

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Background: Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan. Purpose: To prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases. Methods: Medline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively. Results: In total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50%) and 9 provided data (23%). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity. Conclusions: The review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.

AB - Background: Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan. Purpose: To prepare a systematic review of the prevalence of Morquio A in multiple countries and suggest recommendations for reporting rare diseases. Methods: Medline, Medline In-Process, Medline Daily Update, Embase, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Database of Abstracts of Reviews of Effects, Health Technology Assessment Database and PROSPERO were searched from inception to October 2013 to identify relevant information on the epidemiology of Morquio A. Forty Patient Organisation Representatives (POR) and Key Opinion Leaders (KOL) across 24 countries were contacted for data. Observational studies were included and case reports were excluded. Searches were performed without date or language restriction. Two researchers independently screened and extracted data. Quality of study reporting was assessed using a checklist adapted from STROBE (STrengthening the Reporting of OBservational studies in Epidemiology). Point or birth prevalence was stratified according to diagnostic method and discussed narratively. Results: In total 9,074 records were retrieved from searching and 25 studies were included for data extraction. Twenty out of 40 KOL and POR responded (50%) and 9 provided data (23%). Point prevalence of Morquio A was 1 per 926,000 in Australia, 1 per 1,872,000 in Malaysia and 1 per 599,000 in UK and Morquio (unclassified) was 1 per 323, 000 in Denmark. Birth prevalence of Morquio A (using recommended diagnostic methods) ranged from 1 per 71,000 in UAE to 1 per 500,000 in Japan. All results were compromised by poor study reporting and internal validity. Conclusions: The review highlighted that there is a misunderstanding of the definitions for prevalence and incidence in the field; that studies were poorly reported (diagnostic methods and patient characteristics) and that no suitable quality assessment tool exists. Overestimation and underestimation of prevalence data can occur. Bespoke reporting guidelines and a quality assessment tool specifically for prevalence of rare diseases are recommended.

U2 - 10.1186/s13023-014-0173-x

DO - 10.1186/s13023-014-0173-x

M3 - Article

VL - 9

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 173

ER -