ORPHA:502318
Cochlear nerve deficiency
Clinical definition (Orphanet)
A rare otorhinolaryngological characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.
Is anyone studying this?
413
413 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=183) is 38.
413 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
330 in the last 10 years · high confidence · 86.6th percentile (publications denominator)
Is a treatment being tested?
3
trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
3 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 79.4th percentile).
high confidence · 79.4th percentile (trials denominator)
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.
Who's working on it?
859
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.
- 01Choi BY14 papers · 2026
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, 300 Gumi-dong, Bundang-gu, Seongnam, 13620, Republic of Korea. choiby2010@gmail.com.
Papers in Europe PMC - 02Li Y14 papers · 2026
Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100853, China.
Papers in Europe PMC - 03He S13 papers · 2026
Department of Otolaryngology - Head and Neck Surgery, The Ohio State University, Columbus, Ohio, USA.
Papers in Europe PMC - 04Wang H11 papers · 2025
Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100853, China.
Papers in Europe PMC - 05Xu L10 papers · 2025
Department of Otolaryngology-Head and Neck Surgery, Shandong Provincial ENT Hospital, Shandong University, Jinan, People's Republic of China.
Papers in Europe PMC - 06Chao X8 papers · 2025
Department of Otolaryngology-Head and Neck Surgery, Shandong Provincial ENT Hospital, Shandong University, Jinan, People's Republic of China.
Papers in Europe PMC - 07Chen J8 papers · 2025
Key Laboratory of Machine Perception, Ministry of Education, School of Intelligence Science and Technology, College of Future Technology, Peking University, Beijing, China.
Papers in Europe PMC - 08Kim BJ8 papers · 2026
Department of Otorhinolaryngology-Head and Neck Surgery, Chungnam National University College of Medicine, Daejeon 35015, Korea.
Papers in Europe PMC - 09Skidmore J8 papers · 2024
Department of Otolaryngology - Head and Neck Surgery, The Ohio State University, Columbus, Ohio, USA.
Papers in Europe PMC - 10Wei X8 papers · 2026
*Department of Otolaryngology, Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, P. R. China †Department of Head and Neck Surgery, David Geffen School of Medicine, UCLA, Los Angeles, California.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 below but are not added to the query string.
"Cochlear nerve deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cochlear nerve deficiency"
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: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query 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