ORPHA:631248
Mitchell Syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
8,875
Trials
0
Interventional, condition-specific
Researchers
1,536
Distinct authors in sample
Gene link
ACOX1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic neurological disorder characterized by childhood to adolescence onset of demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, , and cognitive decline. Vision problems and skin rashes are commonly reported.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0030073
- OMIM:618960
- UMLS:C5394554
Additional Mondo synonyms (3)
ACOX1 upregulation · MITCH · Mitchell syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — ACOX1
- LiteraturePresent
8,875 matched papers (3,846 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?
Yes — we know a specific gene responsible (ACOX1).
GenCC classification: Definitive.
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?
8,875
8,875 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
8,875 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).
3,846 in the last 10 years · low confidence
Phrase hits: 8,875 · MeSH hits: 0
Who's working on it?
1,536
Distinct author names in 200 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.
- 01
- 02Mitch WA13 papers · 2026
Department of Civil and Environmental Engineering, Stanford University, 473 Via Ortega, Stanford, California 94305, United States.
Papers in Europe PMC - 03Duncan MJ8 papers · 2026
School of Medicine & Public Health, The University of Newcastle, Callaghan, NSW, Australia.
Papers in Europe PMC - 04Li MG7 papers · 2026
Center for Smart Manufacturing, Division of Integrative Systems and Design, The Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong SAR 999077, China.
Papers in Europe PMC - 05Phelps MA7 papers · 2026
College of Pharmacy, The Ohio State University, Columbus, USA.
Papers in Europe PMC - 06Matoga MM6 papers · 2026
Reproductive and Sexual Health Clinic, University of North Carolina Project Malawi, Lilongwe, Malawi.
Papers in Europe PMC - 07Vandelanotte C6 papers · 2026
Appleton Institute, Central Queensland University, Wayville, SA, Australia.
Papers in Europe PMC - 08Zhong H6 papers · 2026
Center on Smart Manufacturing, Division of Integrative Systems and Design, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 999077, China.
Papers in Europe PMC - 09Chen JS5 papers · 2026
Institute of Global Health and Infectious Diseases, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Papers in Europe PMC - 10Chen S5 papers · 2026
Center for Smart Manufacturing, Division of Integrative Systems and Design, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR 999077, China.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Mitchell Syndrome" OR "ACOX1 upregulation" OR "MITCH"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitchell Syndrome" OR "ACOX1 upregulation" OR "MITCH" OR "ACOX1"
Recall-expansion terms: ACOX1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (8875) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T19:26:37.497Z