ORPHA:61
Alpha-mannosidosis
Also known as: Lysosomal alpha-D-mannosidase deficiency
Publications
1,242
86.1th percentile
Trials
14
Interventional, condition-specific
Researchers
1,352
Distinct authors in sample
Gene link
MAN2B1
Definitive
Readiness
6/6
Stages with a signal
Clinical definition (Orphanet)
An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009561
- MeSH:D008363
- OMIM:248500
- UMLS:C0024748
- NCIT:C84548
Additional Mondo synonyms (3)
alpha-mannosidosis · lysosomal alpha-D-mannosidase deficiency · mannosidosis, alpha-, types I and II
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
6/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MAN2B1
- LiteraturePresent
1,242 matched papers (730 in last 10 years) Source
- Phenotype characterisedPresent
216 HPO annotations (e.g. Retinal degeneration; Femoral bowing; Thick eyebrow) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationPresent
1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. Recombinant human alpha-mannosidase Source
- Interventional trialPresent
14 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MAN2B1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
216
Associated phenotypes · MONDO:0009561
- Retinal degeneration
- Femoral bowing
- Thick eyebrow
- Babinski sign
- Low anterior hairline
Showing 5 of 216 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Man2b1tm1Psa/Man2b1tm1Psa [background:] involves: 129 * C57BL/6J·MGI:3603566·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
3
Designations · 1 with FDA orphan-indication approval
- FDA Recombinant human alpha-mannosidasealpha-Mannosidosis · 2006-02-02 · Not FDA Approved for Orphan Indication
- EMA recombinant human alpha-Mannosidase (velmanase alfa) (Lamzede)Treatment of alpha-mannosidosis · 26/01/2005 · PositiveEMA designation
- EMA autologous peripheral blood-derived CD34+ haematopoietic stem and progenitor cells transduced with a lentiviral vector containing the human MAN2B1 geneTreatment of alpha-mannosidosis · 12/09/2025 · PositiveEMA designation
Sources: FDA OOPD · EMA orphan designations
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,242
1,242 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,242 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
730 in the last 10 years · high confidence · 86.1th percentile (publications denominator)
Phrase hits: 622 · MeSH hits: 0
Who's working on it?
1,352
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Guffon N11 papers · 2025
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France.
Papers in Europe PMC - 02Lund AM11 papers · 2025
Department of Paediatrics and Adolescent Medicine, Centre for Inherited Metabolic Diseases, Copenhagen, Denmark.
Papers in Europe PMC - 03Hennermann JB10 papers · 2026
University Medical Center Mainz, Dept. of Pediatric and Adolescent Medicine, Mainz, Germany.
Papers in Europe PMC - 04Borgwardt L9 papers · 2025
Department of Paediatrics and Adolescent Medicine, Centre for Inherited Metabolic Diseases, Copenhagen, Denmark. Line.Gutte.Borgwardt@regionh.dk.
Papers in Europe PMC - 05Gil-Campos M7 papers · 2024
Unidad de Metabolismo e Investigación Pediátrica, Hospital Universitario Reina Sofía, IMIBIC, Universidad de Córdoba, CIBERObn, Córdoba, Spain.
Papers in Europe PMC - 06Stepien KM7 papers · 2025
Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, UK.
Papers in Europe PMC - 07
- 08Tylki-Szymanska A6 papers · 2020
Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 09Wolfe JH6 papers · 2026
Research Institute of Children's Hospital of Philadelphia, 502-G Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
14
interventional trials for this specific condition
14 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 11 September 2026 · last trial check 28 July 2026
14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).
high confidence · 93.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
14 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT02254863·RECRUITING·UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Not reviewed·Conditions: Adrenoleukodystrophy · Batten Disease · Mucopolysaccharidosis II · Leukodystrophy, Globoid Cell·Matched via name phrase
Observational and natural-history studies
6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT03333200·RECRUITING·Longitudinal Study of Neurodegenerative Disorders
Not reviewed·Conditions: MLD · Krabbe Disease · ALD · MPS I·Matched via name phrase
- NCT06184503·RECRUITING·Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3
Not reviewed·Conditions: Alpha-Mannosidosis·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 61 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (60)
- isrctn·ISRCTN96077718·No longer recruiting·Long-term efficacy and safety of Lamazym for the treatment of patients with alpha-Mannosidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523829-17-00·Authorised·18F-fluoro-ethyl-tyrosine (18FET) PET for difficult clinical situations in functional pituitary adenoma. A prospective, single arm, single center study. (FET-PIT)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525531-16-00·Authorised·A Randomized Phase III Study to Investigate the Efficacy and Safety of Alpha1H as a Neoadjuvant Therapy in Participants with Low- to Intermediate-Risk/Low-Grade Papillary Non-Muscle Invasive Bladder Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-524761-25-00·Authorised·The impact of ovarian stimulation with hMG on embryo quality in advanced age women. A randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525611-13-00·Authorised·Treatment strategies for juvenile idiopathic arthritis patients with sustained inactive disease: A phase 4, multicentre, randomised trial comparing maintenance versus tapered TNF alpha inhibitor monotherapy - the Treat-JIA trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-524810-28-00·Authorised, recruiting·A Pivotal Open-label Phase 3 Clinical Study Evaluating the Efficacy and Safety of QTX-2101 in Combination With All-trans Retinoic Acid in Newly Diagnosed, Low-risk Acute Promyelocytic Leukemia
skipped — LLM skipped (--skip-llm)
- ctis·2023-506965-72-00·Authorised, recruiting·An open-label, single-center study to evaluate the safety and test-retest characteristics of [11C]MODAG-005 as PET radioligand for imaging pathological alpha-synuclein deposition in the brains of patients with Parkinson’s disease (PD) or Multiple System Atrophy (MSA) compared to age-matched healthy controls (AMHC)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524122-18-00·Authorised·ADRESS : Efficacy of the Alpha 2 agonist dexmedetomidine for sympathetic Deactivation in REfractory Septic Shock: a randomized, controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523922-42-00·Authorised·Randomized, multicenter, open-label clinical trial to evaluate the clinical and microbiological impact of methenamine hippurate as an alternative prophylaxis to antibiotics in the management of recurrent urinary tract infections in women
skipped — LLM skipped (--skip-llm)
- ctis·2025-524841-28-00·Cancelled·KET01-IIT03: A Pilot, Open-label Phase II Trial of Adjunctive Treatment with Ketamine Hydrochloride Prolonged-Release Tablets (KET01) during the Initiation of Antidepressant Therapy in Major Depressive Disorder
skipped — LLM skipped (--skip-llm)
- ctis·2025-521985-82-00·Authorised·Efficacy and safety of a combined therapy with Alpha-Lipoic Acid and Benfotiamine in the symptomatic treatment of diabetic sensorimotor polyneuropathy - a prospective, randomized, controlled, parallel group, double-blind, double-dummy 3-arm trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523863-39-00·Authorised, ongoing·Changes in the wound microbiome and their impact on chronic wound healing under hyperbaric conditions
skipped — LLM skipped (--skip-llm)
- ctis·2025-522792-29-00·Authorised·An Open-label, Multicenter, Randomized, Non-Inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Weekly Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Patients with Alpha1-Antitrypsin Deficiency Compared to Corresponding Standard 60 mg/kg/week and 120 mg/kg/week Doses of Intravenous Alpha1-Proteinase Inhibitor (5%)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522805-39-00·Authorised, ongoing·A Phase II, Randomized, Open-Label Study Evaluating Two Inavolisib Dose Levels in Combination with Fulvestrant in Participants with PIK3CA-Mutated, HR-Positive, HER2-Negative Locally Advanced or Metastatic Breast Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2024-519369-24-00·Authorised, ongoing·C2321008: A PHASE 3, RANDOMIZED, DOUBLE BLIND, PLACEBO-CONTROLLED STUDY OF MEVROMETOSTAT (PF-06821497) WITH ENZALUTAMIDE IN METASTATIC CASTRATION-SENSITIVE PROSTATE CANCER (MEVPRO-3)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522151-26-00·Authorised, ongoing·A Global, Phase 3, Randomized, Multicenter, Open-Label Study to Evaluate the Efficacy and Safety of Firmonertinib Compared with Investigator’s Choice of Osimertinib or Afatinib as First-Line Treatment in Participants Who Have Locally Advanced or Metastatic Non-Small-Cell Lung Cancer with Epidermal Growth Factor Receptor P-Loop and Alpha C-Helix Compressing (PACC) Uncommon Mutations (ALPACCA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515935-31-04·Authorised, recruiting·A positron emission tomography study of synaptic nerve cells proteins alpha-7 nicotinic acetylcholine receptors in brain of healthy volunteers and patients with mild cognitive impairment and Alzheimer´s disease.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523534-11-00·Authorised, ongoing·Evaluation of the effect of intravenous lidocaine on the systemic inflammatory response associated with cardiopulmonary bypass in patients undergoing elective valvular and coronary cardiac surgery: A randomized double-blind clinical trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521408-24-00·Authorised, ongoing·Low dose corticosteroids adjacent to enzyme replacement therapy or chaperon therapy in patients with cardiac manifestation of Fabry disease – prospective randomized controlled phase III trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521923-58-00·Authorised·Role of Neuroinflammation and Blood-Brain Barrier Breakdown in Intracerebral Hemorrhage.
The INFINITE Study
skipped — LLM skipped (--skip-llm)
- ctis·2023-509432-25-00·Expired·STS-001: An explorative clinical study to assess the potential of intravenously administered sodium thiosulfate in subjects with primary Raynaud’s phenomenon
skipped — LLM skipped (--skip-llm)
- ctis·2025-521694-14-00·Authorised·REstoration with calcifediol of VItamin D deficiency in pulmonary Arterial Hypertension patients (REVIDAH study)
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Alpha-mannosidosis — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Alpha-mannosidosis" OR "Lysosomal alpha-D-mannosidase deficiency" OR "mannosidosis, alpha-, types I and II") OR ("MAN2B1" OR "MAN2B1 syndrome" OR "MAN2B1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alpha-mannosidosis" OR "Lysosomal alpha-D-mannosidase deficiency" OR "mannosidosis, alpha-, types I and II"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 14 interventional · 6 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T12:16:48.477Z