RecruitingPhase 1NCT02254863
Metabolic
Alpha-Mannosidosis
Also known as MAN2B1 deficiency, lysosomal alpha-mannosidase deficiency
Alpha-mannosidosis is a lysosomal storage disorder caused by deficiency of lysosomal alpha-mannosidase (MAN2B1), which is required to break down mannose-rich oligosaccharides. Accumulation of these glycoprotein fragments in cells throughout
ORPHA:61 ↗Gene MAN2B1Prevalence 1-9 per 1,000,000 (Orphanet)Onset Childhood, AdolescentAutosomal recessive genetic
6
studies recruiting now
as of 7 Sept 2026
29
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
27 Aug 2020
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03333200
Longitudinal Study of Neurodegenerative Disorders
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Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
RecruitingPhase 2NCT01962415
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Alpha-Mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder caused by deficiency of lysosomal alpha-mannosidase (MAN2B1), which is required to break down mannose-rich oligosaccharides. Accumulation of these glycoprotein fragments in cells throughout the body causes intellectual disability, recurrent infections due to immune dysfunction, hearing loss, and skeletal abnormalities. Velmanase alfa (Lamzede) is an approved enzyme replacement therapy for non-neurological manifestations.
Common clinical features
Intellectual disabilityRecurrent infectionsHearing lossCoarse facial featuresAtaxiaSkeletal abnormalitiesPsychiatric symptoms
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Velmanase Alfa (Lamzede)
Before you apply
Things trial teams commonly ask about for Alpha-Mannosidosis. Not eligibility rules; those are set by each study.
- Velmanase alfa (Lamzede) is approved — trials may focus on CNS outcomes, higher-dose regimens, or next-generation approaches
- Urinary oligosaccharide excretion pattern is the diagnostic biomarker required for trial documentation
- Neuropsychological testing battery results are key eligibility and outcome measures
- Hematopoietic stem cell transplantation has been used in some patients — transplant status affects eligibility for ERT or gene therapy trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).