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mucopolysaccharidosis type 6 - Clinical Profile, Treatments & Trials | Kisho | Kisho

Features include always present findings: Cloudy or opaque cornea (corneal opacity), Short stature, Flexion contracture, and Coarse facial features and others; and very common findings: Genu valgum, Hirsutism, Umbilical hernia, and Mitral regurgitation and others. 61 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Hydrocephalus, Intellectual disability
Bones and joints	6	Bone tissue death from poor blood supply (avascular necrosis), Excessive inward curve of the lower back (lumbar hyperlordosis), Kyphoscoliosis
Lungs and breathing	5	Recurrent upper respiratory tract infections, High blood pressure in lung arteries (pulmonary arterial hypertension), Pneumonia
Heart and blood vessels	5	Mitral regurgitation, High blood pressure in lung arteries (pulmonary arterial hypertension), Sinus tachycardia
Blood and immune system	3	Reduced leukocyte arylsulfatase B activity, Recurrent upper respiratory tract infections, Enlarged spleen (splenomegaly)
Digestive system	3	Enlarged liver (hepatomegaly), Chronic constipation, Enlarged spleen (splenomegaly)
Eyes	2	Cloudy or opaque cornea (corneal opacity), Glaucoma
Growth and development	2	Short stature, Disproportionate short-trunk short stature
Head and neck	2	Coarse facial features, Macrocephaly
Skin	2	Thickened skin, Dermatan sulfate excretion in urine
Ears	1	Hearing loss (hearing impairment)
Muscles	1	Flexion contracture
Arms and legs	1	Split hand

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for mucopolysaccharidosis type 6, including GALSULFASE (NAGLAZYME, approved 2005). An additional 2 compounds hold orphan drug designation.

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status
NAGLAZYME	GALSULFASE	—	2005	Available

Orphan Drug Designations

The following drugs have received orphan drug designation from the FDA for mucopolysaccharidosis type 6. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
odiparcil	odiparcil	Inventiva SA	2017	—	Designated
Naglazyme	N-acetylgalactosamine-4-sulfatase, recombinant human	BioMarin Pharmaceutical, Inc.	1999	2012	Designated (drug approved for other indication)

Clinical Trials

8 trials found

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

8 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 PHASE2, 3 PHASE1. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03655223](https://clinicaltrials.gov/study/NCT03655223)	Early Check: Expanded Screening in Newborns	—	RTI International	ACTIVE_NOT_RECRUITING
[NCT05368038](https://clinicaltrials.gov/study/NCT05368038)	ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program	—	Albert Einstein College of Medicine	ENROLLING_BY_INVITATION
[NCT05845749](https://clinicaltrials.gov/study/NCT05845749)	Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI	PHASE1	University of California, San Francisco	ACTIVE_NOT_RECRUITING
[NCT03153319](https://clinicaltrials.gov/study/NCT03153319)	Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI	PHASE1	Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center	ACTIVE_NOT_RECRUITING
[NCT02171104](https://clinicaltrials.gov/study/NCT02171104)	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	PHASE2	Masonic Cancer Center, University of Minnesota	ACTIVE_NOT_RECRUITING

16 publications have been identified in PubMed for mucopolysaccharidosis type 6. Research spans Basic Science / Preclinical (43%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	6	43%
Disease patterns and progression	3	21%
Research summaries	2	14%
Patient case studies	2	14%
Clinical study results	1	7%

Recent Publications

Duret T (2026). [PMID: 41832557](https://pubmed.ncbi.nlm.nih.gov/41832557/). *Cell Commun Signal*. [Basic Science / Preclinical]
Pereira AF (2026). [PMID: 40079783](https://pubmed.ncbi.nlm.nih.gov/40079783/). *Cornea*. [Case Report / Case Series]
Geremew M (2026). [PMID: 41559547](https://pubmed.ncbi.nlm.nih.gov/41559547/). *BMC microbiology*. [Epidemiology / Natural History]
Song G (2025). [PMID: 40284031](https://pubmed.ncbi.nlm.nih.gov/40284031/). *Pharmaceuticals (Basel, Switzerland)*. [Basic Science / Preclinical]
Vechkasova AO (2025). [PMID: 41255673](https://pubmed.ncbi.nlm.nih.gov/41255673/). *World journal of clinical pediatrics*. [Epidemiology / Natural History]
Bi AS (2025). [PMID: 39303969](https://pubmed.ncbi.nlm.nih.gov/39303969/). *Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association*. [Review / Meta-Analysis]
Zhou W (2025). [PMID: 40141403](https://pubmed.ncbi.nlm.nih.gov/40141403/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Bychkov I (2025). [PMID: 40677925](https://pubmed.ncbi.nlm.nih.gov/40677925/). *Human mutation*. [Case Report / Case Series]
Xu C (2025). [PMID: 40755808](https://pubmed.ncbi.nlm.nih.gov/40755808/). *PeerJ*. [Basic Science / Preclinical]
Solarz J (2025). [PMID: 40783397](https://pubmed.ncbi.nlm.nih.gov/40783397/). *Nature communications*. [Basic Science / Preclinical]

Kisho

mucopolysaccharidosis type 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Orphan Drug Designations

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Transforming clinical trials in rare genetic diseases through telemedicine | Journal of Community Genetics | Springer Nature Link

mucopolysaccharidosis type 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Orphan Drug Designations

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Transforming clinical trials in rare genetic diseases through telemedicine | Journal of Community Genetics | Springer Nature Link