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ORPHA:791

Retinitis pigmentosa

high confidenceDisorder

Publications

37,311

99.2th percentile

Trials

202

Interventional, condition-specific

Researchers

1,477

Distinct authors in sample

Gene link

ADGRA3, ADIPOR1, AHI1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Retinitis pigmentosa (RP) is an inherited retinal leading to loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

retinitis pigmentosa

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ADGRA3, ADIPOR1, AHI1, ARL3, BEST1…

  2. LiteraturePresent

    37,311 matched papers (18,818 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    202 matched on ClinicalTrials.gov (41 recruiting in sample)

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 (ADGRA3, ADIPOR1, AHI1…).

GenCC classification: Definitive.

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?

37,311

37,311 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=5449) is 41.

37,311 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).

18,818 in the last 10 years · high confidence · 99.2th percentile (publications denominator)

Phrase hits: 37,311 · MeSH hits: 950

Open Europe PMC search

Who's working on it?

1,477

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.

  1. 01
    Chen J6 papers · 2026

    Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China. Electronic address: chenjiansu2000@163.com.

    Papers in Europe PMC
  2. 02
    Liang Y6 papers · 2026

    Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China.

    Papers in Europe PMC
  3. 03
    Sun X5 papers · 2026

    Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China.

    Papers in Europe PMC
  4. 04
    Zhang H5 papers · 2026

    Southwest Hospital/Southwest Eye Hospital, Army Medical University, Chongqing, China; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.

    Papers in Europe PMC
  5. 05
    Chen H4 papers · 2026

    Department of Ophthalmology, The First Affiliated Hospital of Jinan University, Guangzhou 510632, China.

    Papers in Europe PMC
  6. 06
    Cui Z4 papers · 2026

    Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China.

    Papers in Europe PMC
  7. 07
    Duan C4 papers · 2026

    Aier Eye Institute, Changsha 410015, China; Aier Academy of Ophthalmology, Central South University, Changsha 410015, China.

    Papers in Europe PMC
  8. 08
    Li Y4 papers · 2026

    Department of Opgthalmology, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, 450003, China.

    Papers in Europe PMC
  9. 09
    Mandai M4 papers · 2026

    Laboratory for Retinal Regeneration, RIKEN Center for Biosystems Dynamics Research, Kobe, Japan.

    Papers in Europe PMC
  10. 10
    Siqueira RC4 papers · 2026

    Rubens Siqueira Research Center, São José do Rio Preto 15010-100, SP, Brazil.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

202

interventional trials for this specific condition

202 interventional trials matched this specific condition name; 41 currently recruiting in our sample.

Data as of 27 July 2026

202 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.2th percentile).

high confidence · 99.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

202 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

88 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

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-26

This 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.

"Retinitis pigmentosa"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Retinitis Pigmentosa

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Retinitis pigmentosa" OR "ADGRA3" OR "ADIPOR1" OR "AHI1" OR "ARL3" OR "BEST1" OR "CA4" OR "CEP250" OR "CLCC1" OR "CRB2" OR "DHX32" OR "DHX38" OR "DSCAML1" OR "DYNC2I2" OR "EP300" OR "EYS" OR "FDFT1" OR "GDPD1" OR "HKDC1" OR "IDH3A" OR "IDH3G" OR "IMPG1" OR "KIAA1549" OR "NEUROD1" OR "POC5" OR "RAX2" OR "REEP6" OR "RP1L1" OR "RPE65" OR "SAMD11" OR "SCLT1" OR "SLC37A3" OR "SLC39A12" OR "SLC4A7" OR "SLC66A1" OR "SPP2" OR "YPEL2"

Recall-expansion terms: ADGRA3, ADIPOR1, AHI1, ARL3, BEST1, CA4, CEP250, CLCC1, CRB2, DHX32, DHX38, DSCAML1, DYNC2I2, EP300, EYS, FDFT1, GDPD1, HKDC1, IDH3A, IDH3G, IMPG1, KIAA1549, NEUROD1, POC5, RAX2, REEP6, RP1L1, RPE65, SAMD11, SCLT1, SLC37A3, SLC39A12, SLC4A7, SLC66A1, SPP2, YPEL2

Interventional trials matched via: both, 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: 202 interventional · 88 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

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 2026-07-26T15:21:50.471Z