ORPHA:597733
Oculocutaneous albinism type 8
Also known as: OCA8
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
46
Distinct authors in sample
Gene link
DCT
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A type of oculocutaneous albinism characterized by mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular includes moderate foveal hypoplasia, iris transillumination, and hypopigmentation of the retina.
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:0030899
- OMIM:619165
- UMLS:C5436929
Additional Mondo synonyms (2)
oculocutaneous albinism, type 8 · oculocutaneous albinism, type VIII
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 identifiedPresent
Strong — DCT
- LiteraturePresent
7 matched papers (7 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 trialPartial
None under the specific name; 6 for broader category oculocutaneous albinism
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 (DCT).
GenCC classification: Strong.
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?
7
7 papers have ever been indexed 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=5449) is 41.
7 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).
7 in the last 10 years · medium confidence · 23.5th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
46
Distinct author names in 7 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.
- 01Arveiler B2 papers · 2025
Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, F-33076 Bordeaux, France.
Papers in Europe PMC - 02Javerzat S2 papers · 2025
Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, F-33076 Bordeaux, France.
Papers in Europe PMC - 03Afink G1 paper · 2022
Reproductive Biology Laboratory, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Aguilar K1 paper · 2021
Department of Pediatrics, Hospital Materno Infantil ISSEMyM, Toluca, Mexico.
Papers in Europe PMC - 05Boussata S1 paper · 2022
Reproductive Biology Laboratory, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Compean Z1 paper · 2021
Department of Pediatrics, Hospital Materno Infantil ISSEMyM, Toluca, Mexico.
Papers in Europe PMC - 07Cuevas-Covarrubiass SA1 paper · 2021
Hospital General de Mexico, National Autonomous University of Mexico, Mexico City, Mexico.
Papers in Europe PMC - 08Decoeur F1 paper · 2022
Bordeaux Imaging Center, CNRS, INSERM, BIC, UMS 3420, US 4, University Bordeaux, F-33076 Bordeaux, France.
Papers in Europe PMC - 09Deng Y1 paper · 2024
College of Animal Science and Technology, Hunan Agricultural University, Changsha 410128, Hunan, China.
Papers in Europe PMC - 10Dolinska MB1 paper · 2022
National Eye Institute, National Institutes of Health, Bethesda, MD 20892, 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). 6 trials are registered for oculocutaneous albinism, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
6 interventional trials matched oculocutaneous albinism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: oculocutaneous albinism
6
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
- NCT07313618·RECRUITING·Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
Conditions: Oculocutaneous Albinism (OCA)·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.
"Oculocutaneous albinism type 8" OR "oculocutaneous albinism, type 8" OR "oculocutaneous albinism, type VIII"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocutaneous albinism type 8" OR "oculocutaneous albinism, type 8" OR "oculocutaneous albinism, type VIII" OR "DCT"
Recall-expansion terms: DCT
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"oculocutaneous albinism"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OCA8
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 2026-07-27T18:54:49.839Z