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mucopolysaccharidosis type 7 - Clinical Profile, Treatments & Trials | Kisho | Kisho

Features include always present findings: Epicanthus, Severe short stature, Reduced tissue beta-glucuronidase activity, and Spatulate ribs and others; and very common findings: Limitation of joint mobility, Short stature, Flexion contracture, and Coarse facial features and others. 65 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Limitation of joint mobility, Joint stiffness, Anterior beaking of lower thoracic vertebrae
Lungs and breathing	4	Obstructive sleep apnea, Recurrent upper respiratory tract infections, Airway obstruction
Brain and nerves	3	Poor speech, Hydrocephalus, Intellectual disability
Growth and development	3	Severe short stature, Short stature, Postnatal growth retardation
Ears	3	Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment), Recurrent otitis media
Head and neck	3	Coarse facial features, Facial asymmetry, Macrocephaly
Eyes	2	Cloudy or opaque cornea (corneal opacity), Visual impairment
Muscles	2	Limitation of joint mobility, Flexion contracture
Heart and blood vessels	2	Abnormal heart valve (abnormal heart valve morphology), Heart muscle disease (cardiomyopathy)
Blood and immune system	2	Recurrent upper respiratory tract infections, Enlarged spleen (splenomegaly)
Digestive system	2	Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)
Pregnancy and birth	1	Hydrops fetalis
Kidneys and urinary system	1	Urinary glycosaminoglycan excretion
Skin	1	Dermatan sulfate excretion in urine

GeneReviews

Clinical Guidance

Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, or in early childhood with developmental delay and characteristic musculoskeletal and craniofacial features. To date, 200 individuals have been identified with biallelic pathogenic variants in GUSB. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Mucopolysaccharidosis Type VII: Frequency of Select Features Feature | % of Persons w/Feature Growth/ constitutional

Disproportionate short stature	100%
Musculoskeletal features	Dysostosis multiplex
Neurologic	Intellectual disability
Craniofacial features	Coarse facial features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for mucopolysaccharidosis type VII (MPS VII) have not been established.

Suggestive Findings

MPS VII should be suspected in a proband with any combination of the following clinical, radiographic, laboratory, and family history findings.

Clinical findings

• Fetal/neonatal presentation

Fetal demise/ neonatal mortality
Nonimmune hydrops fetalis (Note: Presence of hydrops does not necessarily predict subsequent severity of disease in surviving neonates.)
Cholestatic jaundice
Hepatosplenomegaly

• Early childhood presentation

Source: GeneReviews — "Mucopolysaccharidosis Type VII"

GeneReviews

Differential Diagnosis

Lysosomal storage disease. Findings in individuals with mucopolysaccharidosis type VII (MPS VII) overlap those of other lysosomal diseases, particularly other mucopolysaccharide disorders, including those summarized in . Clinical findings and biochemical testing can distinguish them. Table 3. Genes and Disorders of Interest in the Differential Diagnosis of Mucopolysaccharidosis Type VII

Gene	Disorder	MOI	Clinical Findings	Laboratory Findings
MPS I	AR	Similar to MPS VII	Deficient alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts IDS

Genetic testing for GUSB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mucopolysaccharidosis type 7 has been reported in the published literature.

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 7, including VESTRONIDASE ALFA (MEPSEVII, approved 2017).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status
MEPSEVII	VESTRONIDASE ALFA	—	2017	Available

GeneReviews

Management Guidelines

No clinical practice guidelines for mucopolysaccharidosis type VII (MPS VII) have been published. Due to the clinical disease variability, these recommendations are intended to be a general guide, and management should be tailored to the specific individual. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MPS VII, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Mucopolysaccharidosis Type VII: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
General	Consultation w/metabolic physician	Referral to center w/experience in mgmt of lysosomal disorders Skeletal manifestations
Development

GeneReviews

Clinical Guidance

Atlantoaxial instability can cause serious neurologic injury. Individuals who have not had cervical fusion should not participate in activities that may result in cervical spine injury such as gymnastics. Cervical spine precautions must be taken during intubation for anesthesia.

Source: GeneReviews — "Mucopolysaccharidosis Type VII"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Mucopolysaccharidosis Type VII"

Clinical Trials

5 trials found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Due to the broad clinical disease spectrum, surveillance should be tailored to the individual. To monitor existing manifestations, the individual's response to treatment, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Mucopolysaccharidosis Type VII: Recommended Surveillance

System/Concern	Evaluation	Frequency
Biomarkers	Urine dermatan chondroitin sulfate	Every 6-12 mos in individuals on ERT
Growth/Feeding/Nutrition	Height, weight, OFC measurement	Every 6-12 mos in infants children, annually thereafter Developmental delay/
Intellectual disability	Developmental assessment	Every 6-12 mos throughout infancy childhood
Skeletal manifestations	Orthopedics eval	Annually Radiographs
Respiratory	ENT pulmonary eval	Annually; Sleep study; Pulmonary function tests
Hearing loss	Audiology exam	Annually throughout childhood; every 2 yrs in adolescents/adults Corneal clouding/
Vision concerns	Ophthalmology exam	Every 1-2 yrs Cardiac disease
Organomegaly	Abdominal MRI	Every 2 yrs or until organomegaly is improved on treatment.; Ultrasound can be done if sedation for MRI is a concern but does not provide volumetric data.
Carpal tunnel syndrome	Nerve conduction study	Every 2 yrs or as needed starting at school age
Dental care	Dental exams	Every 6-12 mos ERT = enzyme replacement therapy; OFC = occipitofrontal circumference

Source: GeneReviews — "Mucopolysaccharidosis Type VII"

Phenotype severity distribution: 14 always present features, 7 very common features, 24 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

5 clinical trials registered, 2 recruiting. Interventions under study include other interventions, drug therapy, and biologic therapy. Pipeline includes 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03604835](https://clinicaltrials.gov/study/NCT03604835)	Mucopolysaccharidosis VII Disease Monitoring Program	—	Ultragenyx Pharmaceutical Inc	UNKNOWN
[NCT03655223](https://clinicaltrials.gov/study/NCT03655223)	Early Check: Expanded Screening in Newborns	—	RTI International	ACTIVE_NOT_RECRUITING
[NCT05619900](https://clinicaltrials.gov/study/NCT05619900)	Registry of Patients Diagnosed With Lysosomal Storage Diseases	—	University of California, San Francisco	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
[NCT04532047](https://clinicaltrials.gov/study/NCT04532047)	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)	PHASE1	University of California, San Francisco	RECRUITING

84 publications have been identified in PubMed for mucopolysaccharidosis type 7. Research spans Epidemiology / Natural History (32%), Case Report / Case Series (18%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	27	32%
Patient case studies	15	18%
Laboratory research	15	18%
Research summaries	10	12%
Clinical study results	7	8%
New treatment approaches	7

Recent Publications

Avendano JP (2026). [PMID: 41733192](https://pubmed.ncbi.nlm.nih.gov/41733192/). *Journal of pediatric orthopedics*. [Basic Science / Preclinical]
Reiners N (2026). [PMID: 41182212](https://pubmed.ncbi.nlm.nih.gov/41182212/). *The Journal of hand surgery*. [Gene Therapy / Novel Therapeutics]
Lusk EN (2026). [PMID: 42004902](https://pubmed.ncbi.nlm.nih.gov/42004902/). *Mol Genet Metab Rep*. [Review / Meta-Analysis]
Okuno T (2026). [PMID: 41492846](https://pubmed.ncbi.nlm.nih.gov/41492846/). *Pediatrics international : official journal of the Japan Pediatric Society*. [Case Report / Case Series]
Jin X (2026). [PMID: 41376155](https://pubmed.ncbi.nlm.nih.gov/41376155/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Gene Therapy / Novel Therapeutics]
Chattannavar G (2026). [PMID: 42161901](https://pubmed.ncbi.nlm.nih.gov/42161901/). *Ophthalmic Genet*. [Case Report / Case Series]
Tucci F (2026). [PMID: 41017152](https://pubmed.ncbi.nlm.nih.gov/41017152/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Clinical Trial Publication]
Zou H (2026). [PMID: 41742100](https://pubmed.ncbi.nlm.nih.gov/41742100/). *BMC pediatrics*. [Basic Science / Preclinical]
van Binsbergen BAW (2026). [PMID: 41656624](https://pubmed.ncbi.nlm.nih.gov/41656624/). *The Journal of hand surgery, European volume*. [Clinical Trial Publication]
Muenzer J (2026). [PMID: 41935419](https://pubmed.ncbi.nlm.nih.gov/41935419/). *Molecular genetics and metabolism*. [Review / Meta-Analysis]

Kisho

mucopolysaccharidosis type 7

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Approved Therapies

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

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 7

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Approved Therapies

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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