ORPHA:217085
Mucopolysaccharidosis type 2, severe form
Also known as: Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A · MPS2A · MPSIIA · Mucopolysaccharidosis type 2, early progressive form · Mucopolysaccharidosis type 2, neuropathic form · Mucopolysaccharidosis type 2A · Mucopolysaccharidosis type II, severe form · Mucopolysaccharidosis type IIA
Publications
21
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
168
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly cognitive decline; it is most often fatal in the second or third decade.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016315
- UMLS:C0342841
Additional Mondo synonyms (5)
iduronate 2-sulfatase deficiency type A · mucopolysaccharidosis type 2, severe form · mucopolysaccharidosis type 2A · mucopolysaccharidosis type II, severe form · mucopolysaccharidosis type IIA
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
21 matched papers (15 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
21
21 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
21 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 21 · MeSH hits: 0
Who's working on it?
168
Distinct author names in 21 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Adam A1 paper · 2002Papers in Europe PMC
- 02Al-Zamil M1 paper · 2023
Department of Physiotherapy, Faculty of Continuing Medical Education, Peoples' Friendship University of Russia, 117198 Moscow, Russia.
Papers in Europe PMC - 03Alvarez-Valadez K1 paper · 2025
Centre de Recherche des Cordeliers, INSERM UMRS 1138, Sorbonne Université, Université Paris Cité, Équipe labellisée par la Ligue contre le Cancer, Institut Universitaire de France, Paris, France.
Papers in Europe PMC - 04Amalfitano A1 paper · 2015
Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI, USA ; Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA.
Papers in Europe PMC - 05An JY1 paper · 2021
Department of Otolaryngology, Ajou University School of Medicine, Suwon, Korea.
Papers in Europe PMC - 06Annaka S1 paper · 1988Papers in Europe PMC
- 07Azevedo MF1 paper · 2018
Fonoaudiologia, Universidade Federal de Sao Paulo (UNIFESP), Sao Paulo, SP, BR.
Papers in Europe PMC - 08Badenetti L1 paper · 2021
Department of Molecular Medicine, University of Padova, 35121 Padova, Italy.
Papers in Europe PMC - 09Bainbridge M1 paper · 2024
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.
Papers in Europe PMC - 10Baker M1 paper · 2024
Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category mucopolysaccharidosis type 2 also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: mucopolysaccharidosis type 2
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Mucopolysaccharidosis type II (Hunter) as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Mucopolysaccharidosis type 2, severe form" OR "Hunter syndrome type A" OR "Iduronate 2-sulfatase deficiency type A" OR "MPS2A" OR "MPSIIA" OR "Mucopolysaccharidosis type 2, early progressive form" OR "Mucopolysaccharidosis type 2, neuropathic form" OR "Mucopolysaccharidosis type 2A" OR "Mucopolysaccharidosis type II, severe form" OR "Mucopolysaccharidosis type IIA"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mucopolysaccharidosis type 2, severe form" OR "Hunter syndrome type A" OR "Iduronate 2-sulfatase deficiency type A" OR "MPS2A" OR "MPSIIA" OR "Mucopolysaccharidosis type 2, early progressive form" OR "Mucopolysaccharidosis type 2, neuropathic form" OR "Mucopolysaccharidosis type 2A" OR "Mucopolysaccharidosis type II, severe form" OR "Mucopolysaccharidosis type IIA"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"mucopolysaccharidosis type 2"
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 2026-07-27T09:45:40.224Z