ORPHA:79432
Oculocutaneous albinism type 2
Also known as: OCA2
Publications
16,606
96.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,112
Distinct authors in sample
Gene link
MC1R, OCA2
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
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:0008746
- MeSH:C537730
- OMIM:203200
- UMLS:C0268495
Additional Mondo synonyms (3)
albinism, oculocutaneous, type II, modifier of · oculocutaneous albinism type 2 · oculocutaneous albinism, tyrosinase-positive
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — MC1R, OCA2
- LiteraturePresent
16,606 matched papers (9,010 in last 10 years) Source
- Phenotype characterisedPresent
38 HPO annotations (e.g. Abnormality of refraction; Heterochromia iridis; Freckling) 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; 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 (MC1R, OCA2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
38
Associated phenotypes · MONDO:0008746
- Abnormality of refraction
- Heterochromia iridis
- Freckling
- Iris hypopigmentation
- Hypoplasia of the fovea
Showing 5 of 38 — 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?
16,606
16,606 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
16,606 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).
9,010 in the last 10 years · medium confidence · 96.7th percentile (publications denominator)
Phrase hits: 192 · MeSH hits: 7
Who's working on it?
1,112
Distinct author names in 192 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.
- 01Manga P9 papers · 2024
The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY, USA. prashiela.manga@nyumc.org
Papers in Europe PMC - 02Orlow SJ7 papers · 2013Papers in Europe PMC
- 03Brilliant MH6 papers · 2012
Department of Pediatrics, University of Arizona College of Medicine, Tucson 85724, USA. mhb@peds.arizona.edu
Papers in Europe PMC - 04Li H6 papers · 2023
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 05Arveiler B5 papers · 2024
Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Bordeaux, France.
Papers in Europe PMC - 06Lasseaux E5 papers · 2024
CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Papers in Europe PMC - 07Sviderskaya EV5 papers · 2024
Molecular Cell Sciences Research Centre, St. George's, University of London, London SW17 0RE, England, UK.
Papers in Europe PMC - 08Wang J5 papers · 2025
BGI-Shenzhen, Shenzhen, China Department of Biology, University of Copenhagen, Copenhagen, Denmark sub@mail.kiz.ac.cn mengam@mail.tsinghua.edu.cn shihong@kbimed.com.
Papers in Europe PMC - 09Zippin JH5 papers · 2024
Department of Dermatology, Weill Cornell Medical College, New York, NY 10021, USA. jhzippin@med.cornell.edu.
Papers in Europe PMC - 10Bennett DC4 papers · 2015
Molecular Cell Sciences Research Centre, St. George's, University of London, London SW17 0RE, England, UK.
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 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.
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
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 60 · after dedupe 58 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 58 · dropped 0 · fetched 2026-07-30
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 (58)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2025-524438-24-00·Authorised·A Phase 1/2 Open-Label, Single Ascending Dose, First-In-Human Study to Assess Safety and Tolerability of Endoscopic Ultrasound-Guided Pancreatic Infusion of RJVA-001 in Adults With Inadequately Controlled Type 2 Diabetes on Multiple Glucose-Lowering Agents.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521142-22-00·Authorised, recruiting·A Phase 3 Trial to Evaluate the Long-Term Safety and Efficacy of Navenibart in Participants with Hereditary Angioedema – ORBIT-EXPANSE
skipped — LLM skipped (--skip-llm)
- ctis·2025-520800-81-00·Authorised·THE EFFECT OF ROPINIROLE ON FUNCTIONAL CONNECTIVITY AND METACOGNITION IN HEALTHY SUBJECTS
skipped — LLM skipped (--skip-llm)
- ctis·2024-519832-17-00·Cancelled·Perineural incobotulinumtoxin-A for Complex Regional Pain Syndrome - An open-label feasibility study (PINCom)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521660-35-00·Expired·A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Navenibart in Participants with Hereditary Angioedema - ALPHA-ORBIT
skipped — LLM skipped (--skip-llm)
- ctis·2024-515598-82-00·Authorised, recruiting·A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental and Epileptic Encephalopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-520230-29-00·Cancelled·A study to test how insulin NNC0471-0119 works in the body in participants with type 2 diabetes when given by an insulin pump.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520212-18-00·Cancelled·A single-dose, open-label, randomized, two-period, two-sequence, crossover pivotal bioequivalence study on Dapagliflozin 10 mg film-coated tablets (Polfa Tarchomin S.A., Poland) versus Froxiga 10 mg film-coated tablets (AstraZeneca AB, Sweden) in healthy volunteers under fasting conditions.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511828-14-00·Authorised, ongoing·A Multi-Centre, Randomised, Double-Blind, Placebo-Controlled Trial of the Safety and Efficacy of the Oral NLRP3 Inhibitor Dapansutrile in Subjects with Type 2 Diabetes Mellitus
Dapan-Dia Study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2023-506540-16-01·Expired·A Phase 2 Long-Term Open-Label Trial to Assess the Safety and Efficacy of Repeat Dosing of STAR-0215 in Adult Patients with Hereditary Angioedema (The ALPHA-SOLAR Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-510990-21-00·Authorised, ongoing·A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II
skipped — LLM skipped (--skip-llm)
- ctis·2024-518915-20-00·Cancelled·Intraclass safety and efficacy comparison among SGLT-2 inhibitors in elderly patients with type 2 diabetes. A pragmatic, phase IV, multicenter, open-label, randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517360-37-00·Cancelled·A study investigating the effect of different approved medications on how the body processes the study compound RO7795081. RO7795081 is a new compound that may potentially be used in the treatment of type 2 diabetes and weight control.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517300-10-01·Authorised, ongoing·Preventive HIPEC in combination with perioperative FLOT versus FLOT alone for resectable diffuse type gastric and
gastroesophageal junction Type II/III adenocarcinoma – The phase III “PREVENT” trial of the AIO /CAOGI /ACO
skipped — LLM skipped (--skip-llm)
- ctis·2024-516647-79-00·Authorised, ongoing·Pain medication tapering for chronic low back pain patients, treated with an intervention focusing on pain relief for axial problems.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518215-18-00·Authorised, ongoing·An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515626-92-00·Authorised, ongoing·MEMMAT - Medulloblastoma European Multitarget Metronomic Anti-Angiogenic Trial - A Phase II study of metronomic and targeted anti-angiogenesis therapy for children with recurrent/progressive medulloblastoma, ependymoma, ATRT and rare CNS tumors
skipped — LLM skipped (--skip-llm)
- ctis·2023-509303-32-00·Authorised, recruiting·Phase 1/2 Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults with Late-Onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-516228-33-00·Authorised, ongoing·A multicenter, register-based, randomized, controlled trial comparing dapagliflozin with metformin treatment in early stage type 2 diabetes patients by assessing mortality and macro- and microvascular complications
skipped — LLM skipped (--skip-llm)
- ctis·2023-506761-65-00·Expired·A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Patients With Spinal Muscular Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2023-507591-44-00·Cancelled·Open-Label Safety, Pharmacokinetic, and Efficacy Trial of Sebetralstat (KVD900) in Pediatric Patients (Ages 2-11) with Hereditary Angioedema Type I or II
skipped — LLM skipped (--skip-llm)
- ctis·2024-512289-33-00·Expired·A PHASE III STUDY OF JR-141 IN MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME) PATIENTS
skipped — LLM skipped (--skip-llm)
- ctis·2024-514773-22-00·Expired·A French multicenter Phase 4 open label extension study of long-term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France
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 Oculocutaneous albinism type 2 — 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.
("Oculocutaneous albinism type 2" OR "albinism, oculocutaneous, type II, modifier of" OR "oculocutaneous albinism, tyrosinase-positive") OR (MESH:"Oculocutaneous albinism type 2") OR ("MC1R" OR "MC1R syndrome" OR "MC1R-related" OR "OCA2" OR "OCA2 syndrome" OR "OCA2-related")MeSH descriptor terms unioned into the query: Oculocutaneous albinism type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculocutaneous albinism type 2" OR "albinism, oculocutaneous, type II, modifier of" OR "oculocutaneous albinism, tyrosinase-positive"
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: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OCA2
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 2026-07-27T02:24:37.886Z