ORPHA:1215
Autosomal dominant optic atrophy plus syndrome
Also known as: ADOA+ · DOA+ · Optic atrophy-deafness-polyneuropathy-myopathy syndrome · Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
Publications
930
84.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,194
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, , chronic external ophthalmoplegia, and peripheral . More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
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.
Additional Mondo synonyms (2)
optic atrophy type 8 · optic atrophy-deafness-polyneuropathy-myopathy 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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
930 matched papers (572 in last 10 years) Source
- Phenotype characterisedPresent
110 HPO annotations (e.g. Sensorineural hearing impairment; Optic atrophy; Ataxia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 3 for broader category autosomal dominant optic atrophy
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)
110
Associated phenotypes · MONDO:0014720
- Sensorineural hearing impairment
- Optic atrophy
- Ataxia
- Autistic behavior
- Progressive visual loss
Showing 5 of 110 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
930
930 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.
930 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).
572 in the last 10 years · medium confidence · 84.4th percentile (publications denominator)
Phrase hits: 930 · MeSH hits: 0
Who's working on it?
1,194
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.
- 01Yu-Wai-Man P12 papers · 2026
Moorfields Eye Hospital National Health Service Foundation Trust, London, United Kingdom.
Papers in Europe PMC - 02Carelli V6 papers · 2024
IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.
Papers in Europe PMC - 03Palikaras K6 papers · 2025
Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology-Hellas, Crete, Greece.
Papers in Europe PMC - 04Castelnovo A5 papers · 2026
Sleep Medicine Unit, Neurocenter of Southern Switzerland, Ospedale Civico, Lugano, Switzerland; Faculty of Biomedical Sciences, University of Southern Switzerland, Lugano, Switzerland; University Hospital of Psychiatry and Psychotherapy, University of Bern, Bern, Switzerland. Electronic address: anna.castelnovo@eoc.ch.
Papers in Europe PMC - 05Mancuso M5 papers · 2024
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy. Electronic address: michelangelo.mancuso@unipi.it.
Papers in Europe PMC - 06Siciliano G5 papers · 2024
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy.
Papers in Europe PMC - 07Votruba M5 papers · 2021
School of Optometry and Vision Sciences, Cardiff University, Cardiff, United Kingdom.
Papers in Europe PMC - 08Wang J5 papers · 2026
Fujian Key Laboratory of Functional Marine Sensing Materials, Center for Advanced Marine Materials and Smart Sensors, College of Materials and Chemical Engineering, Minjiang University, Fuzhou 350108, P. R. China. wangjun2@mju.edu.cn.
Papers in Europe PMC - 09Wang M5 papers · 2025
Department of Ophthalmology and Vision Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Papers in Europe PMC - 10Wang Y5 papers · 2025
Department of Cardiology, Boston Children's Hospital, Boston, MA, 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). 3 trials are registered for autosomal dominant optic atrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
3 interventional trials matched autosomal dominant optic atrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autosomal dominant optic atrophy
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06970106·RECRUITING·Safety of Single and Repeat Dose of PYC-001 Eye Injections in People With Autosomal Dominant Optic Atrophy (Myrtle)
Conditions: OPA1 Gene Mutation · Autosomal Dominant Optic Atrophy · Hereditary Optic Atrophies · Kjer Optic Atrophy·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 2 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 Autosomal dominant optic atrophy plus syndrome — 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.
"Autosomal dominant optic atrophy plus syndrome" OR "ADOA+" OR "Optic atrophy-deafness-polyneuropathy-myopathy syndrome" OR "Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome" OR "optic atrophy type 8"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant optic atrophy plus syndrome" OR "ADOA+" OR "Optic atrophy-deafness-polyneuropathy-myopathy syndrome" OR "Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome" OR "optic atrophy type 8"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal dominant optic atrophy"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: DOA+
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:43:36.216Z