Mucopolysaccharidosis Type VI — Research Summary
Printed from RareWays (rareways.com.au) on 24 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Exploring the Journeys of Patients with Mucopolysaccharidosis Type VI and Their Family Members at a Tertiary Care Hospital in Saudi Arabia: A Mixed-Methods Case Study
Abozaid GM et al. (27 August 2026)
https://doi.org/10.21203/rs.3.rs-10383577/v1
- 2.
Report of Mucopolysaccharidosis Type VI Disorder in Pakistani Patients Presenting Two Novel ARSB Variants.
Zubaida Bibi et al. — Biochemical genetics (19 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42616231/
- 3.
Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
Chuang Chih-Kuang et al. — Genetics in medicine : official journal of the American College of Medical Genetics (1 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42104851/
- 4.
Molecular Insights into Arylsulfatase B Mutation-Induced Instability in Mucopolysaccharidosis Type VI
Barka Basharat et al. — Clinical & Molecular Biomedicine (30 June 2026)
https://doi.org/10.53295/cmb.v1.i1.100003
- 5.
Mucopolysaccharidosis Type VI Related Retinopathy.
Jabbehdari Sayena et al. — Ophthalmology. Retina (18 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42313050/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02
Completed — BioMarin Pharmaceutical
https://clinicaltrials.gov/study/NCT01387854
- 2.
Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
Completed — BioMarin Pharmaceutical
https://clinicaltrials.gov/study/NCT00214773
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Mucopolysaccharidosis Type VI
Mucopolysaccharidosis type VI, also called Maroteaux-Lamy syndrome, is a rare inherited condition in which a missing enzyme lets complex sugars build up in the body's tissues. It can affect the bones and joints, heart valves, airways, eyes, hearing and growth, while learning is usually unaffected. Care involves enzyme replacement therapy and a team managing the heart, breathing, surgery and mobility needs.
Most Recent Research
<title>Abstract</title> <p>Background Mucopolysaccharidosis type VI (MPS-VI) is a rare inherited lysosomal storage disorder caused by deficiency of arylsulfatase B. In Saudi Arabia, the prevalence of MPS-VI is substantial owing to high consanguinity rates, leading to significant clinical, psychosocial, and economic burdens on affected families and the healthcare system. Given the challenges posed by RDs, improved access to ODs is crucial. This study explored the diagnostic pathway, treatment experiences, and care coordination challenges of patients with MPS-VI treated at a tertiary care hospital. Methods A sequential explanatory mixed-methods approach was used. In the quantitative phase, clinical data were extracted retrospectively from Electronic Medical Records for patients with MPS-VI receiving Galsulfase, Enzyme Replacement Therapy. In the qualitative phase, semi-structured interviews were conducted with the MPS-VI patients’ family members to contextualise the clinical findings. Quantitative data were summarised descriptively, and qualitative data were analysed thematically. Results Nine patients participated in the quantitative studies, and seven of them participated in semi-structured interviews. Anthropometric measures improved after enzyme replacement therapy, with an average height increase of 17.2 cm, and most patients with comparable measurements showed improved functional endurance, as evidenced by a 75-m gain in the 6-minute walk test. The average time from symptom onset to diagnosis was approximately 24 months, and treatment delays were common. Four qualitative themes were identified: Diagnostic and Care Provision Inequities; Treatment Pathways and Continuity of Therapy; Logistical Burdens and Care Coordination Gaps; and Psychosocial and Emotional Strain. Conclusion Overall, this study's findings highlight the clinical benefits of Enzyme Replacement Therapy, as it enhanced growth and functional endurance. However, diagnostic delays, treatment interruptions, and psychosocial family burdens remained. Early recognition, streamlined referral and procurement processes, coordinated multidisciplinary care, and stronger psychosocial support may improve MPS-VI care in Saudi Arabia</p>
Common Questions
What is Mucopolysaccharidosis Type VI?
Mucopolysaccharidosis type VI, also called Maroteaux-Lamy syndrome, is a rare inherited condition in which a missing enzyme lets complex sugars build up in the body's tissues. It can affect the bones and joints, heart valves, airways, eyes, hearing and growth, while learning is usually unaffected. Care involves enzyme replacement therapy and a team managing the heart, breathing, surgery and mobility needs.
How many clinical trials are available for Mucopolysaccharidosis Type VI?
RareWays currently indexes 26 clinical trials for Mucopolysaccharidosis Type VI, of which 3 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Mucopolysaccharidosis Type VI come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Mucopolysaccharidosis Type VI.
No spam. Unsubscribe any time. Not medical advice.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.