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ORPHA:55595

TNP03-related limb-girdle muscular dystrophy D2

low confidenceDisorder

Also known as: Autosomal dominant limb-girdle muscular dystrophy type 1F · LGMD type 1F · LGMD1F · Limb-girdle muscular dystrophy type 1F

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

Publications

1,589

Trials

0

Interventional, condition-specific

Researchers

399

Distinct authors in sample

Gene link

TNPO3

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of limb-girdle muscular , with a variable age of onset, characterized by , proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

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 (1)

muscular dystrophy, limb-girdle, autosomal dominant 2

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 — TNPO3

  2. LiteraturePresent

    1,589 matched papers (1,030 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Centrally nucleated skeletal muscle fibers; Dysphagia; Delayed ability to walk) 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 (TNPO3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0012034

  • Centrally nucleated skeletal muscle fibers
  • Dysphagia
  • Delayed ability to walk
  • Difficulty climbing stairs
  • Scapular winging

Showing 5 of 20 — 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?

1,589

1,589 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.

1,589 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).

1,030 in the last 10 years · low confidence

Phrase hits: 71 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

399

Distinct author names in 71 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
    Angelini C10 papers · 2024

    IRCCS San Camillo Hospital, Via Alberoni 70, 30126 Venice, Italy.

    Papers in Europe PMC
  2. 02
    Nigro V6 papers · 2018

    TIGEM (Telethon Institute of Genetics and Medicine), Napoli, Italy.

    Papers in Europe PMC
  3. 03
    Christ F4 papers · 2021

    Laboratory of Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Herestraat 49 bus 822, 3000 Leuven, Belgium.

    Papers in Europe PMC
  4. 04
    Debyser Z4 papers · 2021

    Laboratory of Molecular Virology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Herestraat 49 bus 822, 3000 Leuven, Belgium.

    Papers in Europe PMC
  5. 05
    Fanin M4 papers · 2015

    Department of Neurosciences, University of Padova, Padova, Italy.

    Papers in Europe PMC
  6. 06
    Peterle E4 papers · 2015

    Department of Neurosciences, University of Padova, Biomedical Campus "Pietro d'Abano", via Giuseppe Orus 2B, 35129 Padova, Italy.

    Papers in Europe PMC
  7. 07
    Artero R3 papers · 2026

    Translational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjasot, 46100 Valencia, Spain.

    Papers in Europe PMC
  8. 08
    Bargiela A3 papers · 2026

    Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), 46026 Valencia, Spain.

    Papers in Europe PMC
  9. 09
    Carraro U3 papers · 2023

    Department of Biomedical Sciences, University of Padua, Italy; CIR MYO - Interdepartmental Research Centre of Myology, University of Padua, Italy; Armando & Carmela Mioni-Carraro Foundation for Translational Myology, Padua. ugo.carraro@unipd.it.

    Papers in Europe PMC
  10. 10
    Cenacchi G3 papers · 2025

    Department of Biomedical and Neuromotor Sciences-DIBINEM, Alma Mater Studiorum University of Bologna, via Massarenti 9, 40138, Bologna, Italy. giovanna.cenacchi@unibo.it.

    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. 1 observational study 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

1 observational study matches 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 2026-07-29

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 TNP03-related limb-girdle muscular dystrophy D2 — 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.

("TNP03-related limb-girdle muscular dystrophy D2" OR "Autosomal dominant limb-girdle muscular dystrophy type 1F" OR "LGMD type 1F" OR "LGMD1F" OR "Limb-girdle muscular dystrophy type 1F" OR "muscular dystrophy, limb-girdle, autosomal dominant 2") OR (MESH:"Muscular Dystrophy, Limb-Girdle, Type 1F") OR ("TNPO3" OR "TNPO3 syndrome" OR "TNPO3-related" OR "TNP03" OR "TNP03 syndrome" OR "TNP03-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Limb-Girdle, Type 1F

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

"TNP03-related limb-girdle muscular dystrophy D2" OR "Autosomal dominant limb-girdle muscular dystrophy type 1F" OR "LGMD type 1F" OR "LGMD1F" OR "Limb-girdle muscular dystrophy type 1F" OR "muscular dystrophy, limb-girdle, autosomal dominant 2" OR "Muscular Dystrophy, Limb-Girdle, Type 1F"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

Query health: suspect — strategies attempted: phrase, mesh; 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 (1589) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:57:32.496Z