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

Orphanet Journal of Rare Diseases

Jos Kleijnen²  Mohit Jain^1,11  Andrew Olaye⁸  Jim McGill¹  Ngu Lock Hock⁵  Chris J Hendriksz⁷  Roberto Giugliani⁹  Michael Fietz^1,10  Takeyuki Akiyama³  Janine Ross⁶  Trudy Bekkering⁴  Kate Misso⁶  Shona Lang⁶  Regina M Leadley⁶ 

[1] Metabolic physician and Clinical geneticist Department of Metabolic Medicine, Royal Children¿s Hospital, Brisbane, Australia;School for Public Health and Primary Care (CAPHRI), Maastricht University, Maastricht, Netherlands;Japan society of patients and families with Mucopolysaccharidoses, 2-37-3, Minamisyojyaku, Suita-Shi 564-0012, Osaka, Japan;BeSyReBekkering Systematic Reviews, Geel, Belgium;Consultant Pediatrician and Clinical Geneticist, Clinical Genetics & Metabolic Department, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur 50586, Malaysia;Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York YO19 6FD, UK;Clinical lead- Adult Inherited Metabolic Disorders, Consultant Transitional Metabolic Medicine, Manchester Academic Health Science Centre, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Ladywell NW2- 2nd Floor Room 107, Salford, Manchester M6 8H, UK;Snr Market Access Manager EUMEA, BioMarin Europe Ltd, 164 Shaftesbury Ave, London WC2H 8HL, United Kingdom;Chief of the Medical Genetics Service, Clinic Hospital of Porto, Porto Alegre, Rio Grande do Sul, Brazil;Department of Biochemical Genetics, SA Pathology (at WCH), 72 King William Road, North Adelaide 5006, SA, Australia;Market Access & Public Policy EUMEA BioMarin Europe Ltd, 164 Shaftesbury Ave, London WC2H 8HL, United Kingdom

关键词: Incidence;    Prevalence;    Epidemiology;    MPS IVA;    Morquio A;    Mucopolysaccharidoses type A;   

Others  :  1149378
DOI  :  10.1186/s13023-014-0173-x

 received in 2014-08-12, accepted in 2014-10-28,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Leadley et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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