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ORPHA:97249

Pontocerebellar hypoplasia type 3

low confidenceSubtype of disorder

Also known as: Cerebellar atrophy with progressive microcephaly · PCH3

Publications

8,234

Trials

0

Interventional, condition-specific

Researchers

529

Distinct authors in sample

Gene link

PCLO

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with and impaired swallowing followed by , optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.

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 (6)

PCH with optic atrophy · PCH without dyskinesia · PCLO non-syndromic pontocerebellar hypoplasia · cerebellar atrophy with progressive microcephaly · clam · non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO

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.

  1. Gene identifiedPresent

    Strong — PCLO

  2. LiteraturePresent

    8,234 matched papers (5,510 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Decreased body weight; Hypoplasia of the brainstem; Cerebellar 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 trialPartial

    None under the specific name; 1 for broader category pontocerebellar hypoplasia

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 (PCLO).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0011948

  • Decreased body weight
  • Hypoplasia of the brainstem
  • Cerebellar atrophy
  • Hypoplasia of the pons
  • High palate

Showing 5 of 32 — 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?

8,234

8,234 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.

8,234 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).

5,510 in the last 10 years · low confidence

Phrase hits: 53 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

529

Distinct author names in 53 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.

  1. 01
    Ackermann F5 papers · 2025

    German Center for Neurodegenerative Diseases e.V. (DZNE), Charité Medical University, Berlin, Germany.

    Papers in Europe PMC
  2. 02
    Baas F3 papers · 2018

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  3. 03
    Barth PG3 papers · 2018

    Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  4. 04
    Bruns C3 papers · 2020

    German Center for Neurodegenerative Diseases e.V. (DZNE), Charité Medical University, Berlin, Germany.

    Papers in Europe PMC
  5. 05
    Falck J3 papers · 2025

    German Center for Neurodegenerative Diseases, Charité Medical University, 10117 Berlin, Germany.

    Papers in Europe PMC
  6. 06
    Garner CC3 papers · 2023

    German Center for Neurodegenerative Diseases e.V. (DZNE), Charité Medical University, Berlin, Germany.

    Papers in Europe PMC
  7. 07
    Hamra FK3 papers · 2020

    Department of Obstetrics and Gynecology, University of Texas Southwestern, Dallas, United States.

    Papers in Europe PMC
  8. 08
    Izsvák Z3 papers · 2020

    Max-Delbrück Center for Molecular Medicine in the Helmholtz Society, Berlin, Germany.

    Papers in Europe PMC
  9. 09
    Li W3 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Mochida GH3 papers · 2015

    Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

    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). 1 trial are registered for pontocerebellar hypoplasia, 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.

low 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.

1 interventional trial matched pontocerebellar hypoplasia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: pontocerebellar hypoplasia

1

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.

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 3 — 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 3" OR "Cerebellar atrophy with progressive microcephaly" OR "PCH with optic atrophy" OR "PCH without dyskinesia" OR "PCLO non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO") OR (MESH:"Pontocerebellar Hypoplasia Type 3") OR ("PCLO" OR "PCLO syndrome" OR "PCLO-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pontocerebellar Hypoplasia Type 3

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

"Pontocerebellar hypoplasia type 3" OR "Cerebellar atrophy with progressive microcephaly" OR "PCH with optic atrophy" OR "PCH without dyskinesia" OR "PCLO non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO"

Study-type breakdown: 0 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: PCH3; clam

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (8234) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:04:12.026Z