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ORPHA:411493

Pontocerebellar hypoplasia type 10

high confidenceSubtype of disorder

Also known as: CLP1-related pontocerebellar hypoplasia · PCH10

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

81

54.3th percentile

Trials

0

Interventional, condition-specific

Researchers

736

Distinct authors in sample

Gene link

CLP1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor , microcephaly, spasticity, , and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor .

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)

CLP1 non-syndromic pontocerebellar hypoplasia · non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — CLP1

  2. LiteraturePresent

    81 matched papers (53 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 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 (CLP1).

GenCC classification: Strong.

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?

81

81 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.

81 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).

53 in the last 10 years · high confidence · 54.3th percentile (publications denominator)

Phrase hits: 81 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

736

Distinct author names in 81 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
    Carbon J3 papers · 1987
    Papers in Europe PMC
  2. 02
    Gleeson JG3 papers · 2024

    Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.

    Papers in Europe PMC
  3. 03
    Li H3 papers · 2025

    BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.

    Papers in Europe PMC
  4. 04
    Mert GG3 papers · 2024

    Departments of Pediatric Neurology, Cukurova University, Adana, Turkey.

    Papers in Europe PMC
  5. 05
    Schaffer AE3 papers · 2023

    Department of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.

    Papers in Europe PMC
  6. 06
    Altin N2 papers · 2023

    Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.

    Papers in Europe PMC
  7. 07
    Bilge S2 papers · 2022

    Department of Pediatric Neurology, College of Medicine, Çukurova University, Adana, Turkey. sarabsmustafa@hotmail.com.

    Papers in Europe PMC
  8. 08
    Boddaert N2 papers · 2023

    Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France.

    Papers in Europe PMC
  9. 09
    Bole-Feysot C2 papers · 2023

    Université de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.

    Papers in Europe PMC
  10. 10
    Bozdoğan ST2 papers · 2022

    Department of Medical Genetics, College of Medicine, Çukurova University, Adana, Turkey.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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.

"Pontocerebellar hypoplasia type 10" OR "CLP1-related pontocerebellar hypoplasia" OR "PCH10" OR "CLP1 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1"

Run this search on Europe PMC

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

"Pontocerebellar hypoplasia type 10" OR "CLP1-related pontocerebellar hypoplasia" OR "PCH10" OR "CLP1 non-syndromic pontocerebellar hypoplasia" OR "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" OR "CLP1"

Recall-expansion terms: CLP1

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: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

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 2026-07-27T15:37:24.268Z