RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:166073

Pontocerebellar hypoplasia type 6

low confidenceSubtype of disorder

Also known as: Fatal infantile encephalopathy with mitochondrial respiratory chain defects · PCH6

Publications

500

Trials

1

Interventional, condition-specific

Researchers

900

Distinct authors in sample

Gene link

RARS2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with , clonus, , impaired swallowing and from infancy by microcephaly, spasticity and lactic .

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 (4)

RARS2 non-syndromic pontocerebellar hypoplasia · fatal infantile encephalopathy with mitochondrial respiratory chain defects · non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2 · pontocerebellar hypoplasia type 6

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 — RARS2

  2. LiteraturePresent

    500 matched papers (375 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Narrow forehead; Lethargy; Cerebral cortical atrophy) 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

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 (RARS2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0012683

  • Narrow forehead
  • Lethargy
  • Cerebral cortical atrophy
  • Cerebellar atrophy
  • Hypotonia

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?

500

500 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.

500 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).

375 in the last 10 years · low confidence

Phrase hits: 92 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

900

Distinct author names in 92 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
    Kurian MA4 papers · 2018

    Department of Neurology, Great Ormond Street Hospital, London, UK; Neurosciences Unit, UCL-Institute of Child Health, London, UK. Electronic address: manju.kurian@ucl.ac.uk.

    Papers in Europe PMC
  2. 02
    Meyer E4 papers · 2018

    Neurosciences Unit, UCL-Institute of Child Health, London, UK.

    Papers in Europe PMC
  3. 03
    Prabhakar P4 papers · 2018

    Department of Neurology, Great Ormond Street Hospital for Children, London, UK.

    Papers in Europe PMC
  4. 04
    Rahman S4 papers · 2018

    Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK. S.Rahman@ich.ucl.ac.uk

    Papers in Europe PMC
  5. 05
    Bertini E3 papers · 2023

    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Brown G3 papers · 2013
    Papers in Europe PMC
  7. 07
    Carr LJ3 papers · 2018

    Department of Neurology, Great Ormond Street Hospital, London, UK.

    Papers in Europe PMC
  8. 08
    Chen L3 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.

    Papers in Europe PMC
  9. 09
    Horvath R3 papers · 2018

    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K. rita.horvath@ncl.ac.uk.

    Papers in Europe PMC
  10. 10
    King MD3 papers · 2018

    Department of Paediatric Neurology, Children's University Hospital, Temple Street, Dublin, Ireland.

    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; none in our sample are currently recruiting.

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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: pontocerebellar hypoplasia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Pontocerebellar hypoplasia type 6 — 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.

("Pontocerebellar hypoplasia type 6" OR "Fatal infantile encephalopathy with mitochondrial respiratory chain defects" OR "RARS2 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2") OR (MESH:"Pontocerebellar Hypoplasia Type 6") OR ("RARS2" OR "RARS2 syndrome" OR "RARS2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pontocerebellar Hypoplasia Type 6

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

"Pontocerebellar hypoplasia type 6" OR "Fatal infantile encephalopathy with mitochondrial respiratory chain defects" OR "RARS2 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2"

Interventional trials matched via: both (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.

Parent-category trials query:

"pontocerebellar hypoplasia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PCH6

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
  • Publication count (500) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:19:20.704Z