ORPHA:2481
Neurocutaneous melanocytosis
Also known as: NCM · Neurocutaneous melanosis
Publications
809
79.6th percentile
Trials
0
Interventional, condition-specific
Researchers
976
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Neurocutaneous melanocytosis (NCM) is a rare neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and neurological impairment, sometimes resulting in death.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009578
- MeSH:C537387
- OMIM:249400
- UMLS:C0544862
- NCIT:C175215
Additional Mondo synonyms (2)
neurocutaneous melanosis · neurocutaneous melanosis, somatic
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
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
809 matched papers (363 in last 10 years) Source
- Phenotype characterisedPresent
57 HPO annotations (e.g. Infectious encephalitis; Meningocele; Neoplasm) 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 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)
57
Associated phenotypes · MONDO:0009578
- Infectious encephalitis
- Meningocele
- Neoplasm
- Abnormal retinal pigmentation
- Seizure
Showing 5 of 57 — 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?
809
809 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.
809 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).
363 in the last 10 years · medium confidence · 79.6th percentile (publications denominator)
Phrase hits: 809 · MeSH hits: 0
Who's working on it?
976
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.
- 01Khakoo Y8 papers · 2025
Department of Pediatrics and Neurology, Memorial Sloan Kettering Cancer Center, New York, NY, U.S.A.
Papers in Europe PMC - 02Marghoob A7 papers · 2021
Memorial Sloan-Kettering Cancer Center , New York, NY ,
Papers in Europe PMC - 03Salgado CM7 papers · 2025
Department of Pathology, Children's Hospital of Pittsburgh of UPMC and Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.
Papers in Europe PMC - 04Basu D6 papers · 2024
Department of Pathology, Children's Hospital of Pittsburgh of UPMC and Dietrich School of Arts and Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania.
Papers in Europe PMC - 05
- 06Reyes-Múgica M6 papers · 2025
Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, PA, U.S.A.
Papers in Europe PMC - 07Hawryluk EB5 papers · 2025
Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 08
- 09Krengel S3 papers · 2019
Department of Dermatology, University of Lübeck, Germany.
Papers in Europe PMC - 10
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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
1 observational study matches 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
- NCT04548817·RECRUITING·Neurocutaneous Melanocytosis Registry
Conditions: Cutaneous Melanocytic Neoplasm · Large Cutaneous Melanocytic Nevi · Neurocutaneous Melanocytosis·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 54 · after dedupe 53 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 53 · 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 (53)
- ctis·2025-524443-12-00·Authorised, recruiting·Randomized adaptive assessment of post COVID syndrome treatments (RAPID): Evaluating the Efficacy of Bupropion for the Treatment of Post-COVID-19 Syndrome-associated Fatigue (ELAPSE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523460-21-00·Authorised·A multicenter, multicohort, phase 2 platform trial to personalize second-line treatment intensity and targeting in HR-positive, HER2-negative metastatic breast cancer through an integrated liquid biopsy algorithm.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520308-24-00·Authorised·BASECOVID - Bevacizumab in post-acute sequelae of COVID-19 : Efficacy and Safety (Pilot Study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-517254-99-00·Revoked·IMMUNORARE5 : A national platform of 5 academic phase II trials coordinated by Lyon university hospital to assess the safety and the efficacy of the IMMUNOtherapy with Domvanalimab + Zimberelimab combination in patients with advanced RARE cancers
skipped — LLM skipped (--skip-llm)
- ctis·2024-512696-12-00·Authorised, ongoing·Asciminib as single agent or in combination with nilotinib in the 1st-line treatment of BCR-ABL1+ Chronic Myeloid Leukemia: a GIMEMA-GELMC phase II study. CML1624
skipped — LLM skipped (--skip-llm)
- ctis·2024-516347-41-00·Authorised, ongoing·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-515311-22-00·Authorised, ongoing·ATOMYELO: Phase I study with dose-escalation and expansion evaluating the safety and efficacy of oral Arsenic (ATO) in low-risk Myelodysplastic Syndromes failing Erythropoiesis Stimulating Agents and Luspatercept (or ineligible for the latter)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519652-90-01·Cancelled·Pilot study on the safety and feasibility of intravenous opioid agonist
therapy (OAT) with Hydagelan® (hydromorphone hydrochloride) in Vienna.
skipped — LLM skipped (--skip-llm)
- ctis·2025-520937-22-00·Authorised·Autologous Bone Marrow derived cells for the treatment of chronic arterial Limb Ischemia in patients with high risk of amputation
skipped — LLM skipped (--skip-llm)
- ctis·2024-519972-21-00·Authorised·Diagnostic yield of Endoscopic aspiration of duodenopancreatic juice after secretin stimulation (ADPJ-secr-) vs endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for molecular analysis of intraductal papillary mucinous intraductal neoplasia (IPMN)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516841-38-00·Authorised, ongoing·MITO 31- A phase II trial of Olaparib in patients with recurrent ovarian cancer wild type for germline and somatic BRCA 1 and 2 genes: The MITO 31 translational study.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513858-29-01·Expired·IDEAL STUDY - A single-arm phase II multicenter study of IDH2 (AG-221) inhibitor in patients with IDH2 mutated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-513150-29-00·Authorised, ongoing·Intrathecal MoRphine versus TAP Block for AnalGesic management in Elective caesarean section performed under neuraxial anesthesia. A monocentric pilot randomized controlled trial. The MIRAGE trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518148-19-00·Authorised·EFFICACY OF USUAL MANAGEMENT BY LOCAL ANESTHETIC INFILTRATION IN THE TREATMENT OF CHRONIC IDIOPATHIC ANO-PERINEAL PAIN: A RANDOMIZED DOUBLE-BLIND -CONTROLLED TRIAL
skipped — LLM skipped (--skip-llm)
- ctis·2024-515555-38-01·Authorised·A Phase II, Open-Label, Single Arm, prospective, multicenter study of niraparib plus dostarlimab in patients with pleural mesothelioma positive for PD-L1 expression and germline or somatic mutations in the HRR genes
skipped — LLM skipped (--skip-llm)
- ctis·2023-508125-27-00·Authorised, ongoing·Esketamine nasal spray (Spravato) for the treatment of therapy-resistant bipolar depression. An open-label pilot trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518769-80-00·Expired·HAMLETT; Handling Antipsychotic Medication: Long-term Evaluation of Targeted Treatment. A pragmatic single blind RCT of continuation versus discontinuation/ dose reduction of antipsychotic medication in patients remitted after a first episode of psychosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-519075-26-00·Authorised, ongoing·Neoadjuvant capecitabine, oxaliplatin, docetaxel and atezolizumab in non-metastatic, resectable gastric and GE-junction cancer - de PANDA trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-513314-35-00·Authorised, ongoing·Neoadjuvant immune checkpoint inhibition and novel IO combinations in early-stage colon cancer - the NICHE trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516466-11-00·Authorised, ongoing·A Phase II Multicentric Study of Olaparib in PALB2-related Advanced Pancreatic Cancer (PALBOLA)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509812-27-01·Authorised·Evaluation of safety of somatic cell based therapy for urinary incontinence in patients after radical prostatectomy, open trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517807-35-00·Cancelled·Randomised, double-blind, placebo-controlled, active-treatment clinical trial to assess the analgesic efficacy and safety of an oral combination of ibuprofen (arginine) -tramadol HCl administered to patients with moderate to severe pain after undergoing dental surgery.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516939-28-00·Authorised, ongoing·A randomized phase II trial of docetaxel or cabazitaxel with or without darolutamide in men with metastatic castration-resistant prostate cancer.
skipped — LLM skipped (--skip-llm)
- ctis·2024-516847-23-00·Expired·DOLAF : An international multicenter phase II trial of Durvalumab (MEDI4736) plus OLAparib plus Fulvestrant in metastatic or locally advanced ER-positive, HER2-negative breast cancer patients selected using criteria that predict sensitivity to olaparib
skipped — LLM skipped (--skip-llm)
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 Neurocutaneous melanocytosis — 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.
"Neurocutaneous melanocytosis" OR "Neurocutaneous melanosis" OR "neurocutaneous melanosis, somatic"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neurocutaneous melanocytosis" OR "Neurocutaneous melanosis" OR "neurocutaneous melanosis, somatic"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NCM
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 2026-07-26T20:17:36.392Z