ORPHA:88628
Posterior column ataxia-retinitis pigmentosa syndrome
Also known as: Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP
Publications
100
60.3th percentile
Trials
1
Interventional, condition-specific
Researchers
770
Distinct authors in sample
Gene link
FLVCR1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012177
- MeSH:C536343
- OMIM:609033
- UMLS:C1836916
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — FLVCR1
- LiteraturePresent
100 matched papers (71 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 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)
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?
100
100 papers have ever been published on this condition (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.
100 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).
71 in the last 10 years · high confidence · 60.3th percentile (publications denominator)
Phrase hits: 99 · MeSH hits: 2
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.
- 01Chiabrando D13 papers · 2026
Molecular Biotechnology Centre, Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy.
Papers in Europe PMC - 02Tolosano 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 - 03Fiorito V8 papers · 2026
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.
Papers in Europe PMC - 04
- 05Petrillo S5 papers · 2026
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.
Papers in Europe PMC - 06Altruda F4 papers · 2024
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.
Papers in Europe PMC - 07Bertino F4 papers · 2026
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center "Guido Tarone", University of Torino, Turin, Italy.
Papers in Europe PMC - 08Biffi 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 - 09Faccenda E4 papers · 2019
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, EH8 9XD, UK.
Papers in Europe PMC - 10Faccioli 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
- NCT06565572·ENROLLING BY INVITATION·Antisense Oligonucleotide Treatment for PCARP Disease Due to Mutation in FLVCR1
Conditions: Posterior Column Ataxia With Retinitis Pigmentosa·Matched via MeSH
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.
"Posterior column ataxia-retinitis pigmentosa syndrome" OR "Autosomal recessive posterior column ataxia and retinitis pigmentosa" OR "PCARP" OR "ataxia, posterior column, with retinitis pigmentosa"
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" OR "FLVCR1"
Recall-expansion terms: FLVCR1
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, recall-expansion; 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
Ingested 2026-07-27T03:22:55.354Z