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ORPHA:369840

TRAPPC11-related limb-girdle muscular dystrophy R18

medium confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2S · LGMD type 2S · LGMD2S · Limb-girdle muscular dystrophy type 2S · TRAPPC11-related LGMD R18

Publications

407

78.4th percentile

Trials

0

Interventional, condition-specific

Researchers

383

Distinct authors in sample

Gene link

TRAPPC11

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular characterized by childhood-onset of proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to hyperkinetic movements, truncal , and . Additional manifestations include scoliosis, hip , and less commonly, ocular features (e.g. myopia, cataract) and .

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 (5)

TRAPPC11 autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11 · autosomal recessive limb-girdle muscular dystrophy type 2S · muscular dystrophy, limb-girdle, autosomal recessive 18 · muscular dystrophy, limb-girdle, type 2S

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TRAPPC11

  2. LiteraturePresent

    407 matched papers (345 in last 10 years) Source

  3. Phenotype characterisedPresent

    71 HPO annotations (e.g. Cerebellar atrophy; Cataract; Hip dysplasia) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  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; 24 for broader category limb-girdle muscular dystrophy

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 (TRAPPC11).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

71

Associated phenotypes · MONDO:0014144

  • Cerebellar atrophy
  • Cataract
  • Hip dysplasia
  • Microcephaly
  • Gait disturbance

Showing 5 of 71 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

407

407 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=3967) is 59.

407 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).

345 in the last 10 years · medium confidence · 78.4th percentile (publications denominator)

Phrase hits: 40 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

383

Distinct author names in 40 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
    Sacher M6 papers · 2021

    Department of Biology, Concordia University, Montreal, QC H4B 1R6 Canada.

    Papers in Europe PMC
  2. 02
    Milev MP4 papers · 2019

    Department of Biology, Concordia University, Montreal, QC H4B 1R6, Canada.

    Papers in Europe PMC
  3. 03
    Beckmann JS2 papers · 2024

    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    Jimenez-Mallebrera C2 papers · 2023

    Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. cjimenezm@fsjd.org.

    Papers in Europe PMC
  5. 05
    Jong YJ2 papers · 2017

    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

    Papers in Europe PMC
  6. 06
    Jou C2 papers · 2023

    U705 and U703 Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Kang PB2 papers · 2024

    Myology Institute, University of Florida, Gainesville, FL, USA. pbkang@ufl.edu.

    Papers in Europe PMC
  8. 08
    Kim J2 papers · 2024

    Department of Physiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.

    Papers in Europe PMC
  9. 09
    Liang WC2 papers · 2017

    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

    Papers in Europe PMC
  10. 10
    Nascimento A2 papers · 2023

    Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 24 trials are registered for limb-girdle muscular dystrophy, 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.

medium 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.

24 interventional trials matched limb-girdle muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: limb-girdle muscular dystrophy

24

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.

Recruiting under the broader category

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 TRAPPC11-related limb-girdle muscular dystrophy R18 — 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.

("TRAPPC11-related limb-girdle muscular dystrophy R18" OR "Autosomal recessive limb-girdle muscular dystrophy type 2S" OR "LGMD type 2S" OR "LGMD2S" OR "Limb-girdle muscular dystrophy type 2S" OR "TRAPPC11-related LGMD R18" OR "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" OR "muscular dystrophy, limb-girdle, autosomal recessive 18" OR "muscular dystrophy, limb-girdle, type 2S") OR ("TRAPPC11" OR "TRAPPC11 syndrome" OR "TRAPPC11-related")

Run this search on Europe PMC

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

"TRAPPC11-related limb-girdle muscular dystrophy R18" OR "Autosomal recessive limb-girdle muscular dystrophy type 2S" OR "LGMD type 2S" OR "LGMD2S" OR "Limb-girdle muscular dystrophy type 2S" OR "TRAPPC11-related LGMD R18" OR "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" OR "muscular dystrophy, limb-girdle, autosomal recessive 18" OR "muscular dystrophy, limb-girdle, type 2S"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

Query health: ok — strategies attempted: phrase; 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
  • Publication count (407) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T14:48:32.043Z