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ORPHA:254361

Plectin-related limb-girdle muscular dystrophy R17

low confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2Q · LGMD type 2Q · LGMD2Q · Limb-girdle muscular dystrophy type 2Q · Plectin-related LGMD R17

Publications

3,030

Trials

0

Interventional, condition-specific

Researchers

335

Distinct authors in sample

Gene link

PLEC

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

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)

muscular dystrophy, limb-girdle, autosomal recessive 17 · muscular dystrophy, limb-girdle, type 2Q

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 — PLEC

  2. LiteraturePresent

    3,030 matched papers (2,175 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Loss of ambulation; Skeletal muscle atrophy; Elevated circulating creatine kinase activity) 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; 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 (PLEC).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

45

Associated phenotypes · MONDO:0013390

  • Loss of ambulation
  • Skeletal muscle atrophy
  • Elevated circulating creatine kinase activity
  • Limb-girdle muscle weakness
  • EMG: myopathic abnormalities

Showing 5 of 45 — 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?

3,030

3,030 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.

3,030 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).

2,175 in the last 10 years · low confidence

Phrase hits: 48 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

335

Distinct author names in 48 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
    Winter L6 papers · 2021

    Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  2. 02
    Wiche G5 papers · 2021

    Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  3. 03
    Walko G3 papers · 2021

    Max F. Perutz Laboratories, Department of Biochemistry and Cell Biology, University of Vienna, Vienna, Austria.

    Papers in Europe PMC
  4. 04
    Zhang W3 papers · 2024

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

    Papers in Europe PMC
  5. 05
    Dincer P2 papers · 2026

    Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkiye.

    Papers in Europe PMC
  6. 06
    Gundesli H2 papers · 2026

    Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye 06100, Ankara, Turkey.

    Papers in Europe PMC
  7. 07
    Kunkel LM2 papers · 2014

    Program in Genomics, Department of Pediatrics and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA, USA Department of Genetics, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Lan D2 papers · 2019

    Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, P.R. China.

    Papers in Europe PMC
  9. 09
    Li L2 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  10. 10
    Liu Y2 papers · 2026

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    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.

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.

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 Plectin-related limb-girdle muscular dystrophy R17 — 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.

("Plectin-related limb-girdle muscular dystrophy R17" OR "Autosomal recessive limb-girdle muscular dystrophy type 2Q" OR "LGMD type 2Q" OR "LGMD2Q" OR "Limb-girdle muscular dystrophy type 2Q" OR "Plectin-related LGMD R17" OR "muscular dystrophy, limb-girdle, autosomal recessive 17" OR "muscular dystrophy, limb-girdle, type 2Q") OR ("PLEC" OR "PLEC syndrome" OR "PLEC-related")

Run this search on Europe PMC

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

"Plectin-related limb-girdle muscular dystrophy R17" OR "Autosomal recessive limb-girdle muscular dystrophy type 2Q" OR "LGMD type 2Q" OR "LGMD2Q" OR "Limb-girdle muscular dystrophy type 2Q" OR "Plectin-related LGMD R17" OR "muscular dystrophy, limb-girdle, autosomal recessive 17" OR "muscular dystrophy, limb-girdle, type 2Q"

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 (3030) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T11:02:07.752Z