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ORPHA:88628

Posterior column ataxia-retinitis pigmentosa syndrome

low confidenceDisorder

Also known as: Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Publications

862

Trials

1

Interventional, condition-specific

Researchers

770

Distinct authors in sample

Gene link

FLVCR1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Posterior column - retinitis pigmentosa is characterized by the association of sensory and retinitis pigmentosa.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

ataxia, posterior column, with retinitis pigmentosa · autosomal recessive posterior column ataxia and 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — FLVCR1

  2. LiteraturePresent

    862 matched papers (708 in last 10 years) Source

  3. Phenotype characterisedPresent

    62 HPO annotations (e.g. Flexion contracture of finger; Bowel incontinence; Cataract) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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 (FLVCR1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

62

Associated phenotypes · MONDO:0012177

  • Flexion contracture of finger
  • Bowel incontinence
  • Cataract
  • Rod-cone dystrophy
  • Pigmentary retinopathy

Showing 5 of 62 — 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?

862

862 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.

862 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).

708 in the last 10 years · low confidence

Phrase hits: 99 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

770

Distinct author names in 100 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
    Chiabrando D13 papers · 2026

    Molecular Biotechnology Centre, Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy.

    Papers in Europe PMC
  2. 02
    Tolosano E12 papers · 2026

    Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy. emanuela.tolosano@unito.it.

    Papers in Europe PMC
  3. 03
    Fiorito V8 papers · 2026

    Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

    Papers in Europe PMC
  4. 04
    Li W5 papers · 2026

    BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China.

    Papers in Europe PMC
  5. 05
    Petrillo S5 papers · 2026

    Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

    Papers in Europe PMC
  6. 06
    Altruda F4 papers · 2024

    Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

    Papers in Europe PMC
  7. 07
    Bertino F4 papers · 2026

    Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.

    Papers in Europe PMC
  8. 08
    Biffi G4 papers · 2026

    University of Cambridge, Cancer Research UK Cambridge Institute, Li Ka Shing Centre, Robinson way, CB2 0RE, Cambridge, UK

    Papers in Europe PMC
  9. 09
    Faccenda E4 papers · 2019

    Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  10. 10
    Faccioli LH4 papers · 2018

    Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Universidade de São Paulo (FCFRP/USP), Ribeirao Preto, Sao Paulo 14040-903, Brazil.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Posterior column ataxia-retinitis pigmentosa syndrome — check Associations / patient organisations on that page.

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.

("Posterior column ataxia-retinitis pigmentosa syndrome" OR "Autosomal recessive posterior column ataxia and retinitis pigmentosa" OR "PCARP" OR "ataxia, posterior column, with retinitis pigmentosa") OR (MESH:"Posterior column ataxia with retinitis pigmentosa") OR ("FLVCR1" OR "FLVCR1 syndrome" OR "FLVCR1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Posterior column ataxia with retinitis pigmentosa

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

"Posterior column ataxia-retinitis pigmentosa syndrome" OR "Autosomal recessive posterior column ataxia and retinitis pigmentosa" OR "PCARP" OR "ataxia, posterior column, with retinitis pigmentosa" OR "Posterior column ataxia with retinitis pigmentosa"

Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (862) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:22:55.354Z