ORPHA:2289
Neuronal intranuclear inclusion disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
710
91.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,020
Distinct authors in sample
Gene link
NOTCH2NLA
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
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:0011327
- MeSH:C537395
- OMIM:603472
- UMLS:C1863843
- NCIT:C122655
Additional Mondo synonyms (1)
neuronal intranuclear inclusion disease
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
Limited — NOTCH2NLA
- LiteraturePresent
710 matched papers (630 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?
Possibly — only limited evidence so far for NOTCH2NLA.
GenCC classification: Limited.
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?
710
710 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=5449) is 41.
710 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).
630 in the last 10 years · high confidence · 91.6th percentile (publications denominator)
Phrase hits: 710 · MeSH hits: 0
Who's working on it?
1,020
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.
- 01Wang Y19 papers · 2026
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, No. 1 Eastern Jianshe Road, Zhengzhou, 450052, Henan, China.
Papers in Europe PMC - 02Sone J17 papers · 2026
Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Papers in Europe PMC - 03Wang X16 papers · 2026
Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.
Papers in Europe PMC - 04Li Y14 papers · 2026
Department of Neurology, Hospital of Guang'an People's Hospital, Guang'an, China.
Papers in Europe PMC - 05Zhang Z14 papers · 2026
Department of Diagnostic Radiology, Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China; School of Medical Imaging, Xuzhou Medical University, Xuzhou 221004, China. Electronic address: zhangzq2001@126.com.
Papers in Europe PMC - 06Tian Y13 papers · 2026
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Papers in Europe PMC - 07Chen H12 papers · 2026
Department of Neurology, The Affiliated Hospital of Xuzhou Medical University, No. 99, Huaihai West Road, Quanshan District, Xuzhou, China. haochen-2008@hotmail.com.
Papers in Europe PMC - 08Liu J12 papers · 2026
Department of Neurology, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, China.
Papers in Europe PMC - 09Wang J12 papers · 2026
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 10Liu Y11 papers · 2026
Department of Neurology, Qilu Hospital of Shandong University, Jinan, China. liuym@sdu.edu.cn.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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
- NCT07670169·RECRUITING·Effect of NOTCH2NLC Gene Variations on NIID Clinical Features
Conditions: Neuronal Intranuclear Inclusion Disease (NIID)·Matched via name phrase
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.
"Neuronal intranuclear inclusion disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neuronal intranuclear inclusion disease" OR "NOTCH2NLA"
Recall-expansion terms: NOTCH2NLA
Study-type breakdown: 0 interventional · 2 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T19:41:02.071Z