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ORPHA:140922

Titin-related limb-girdle muscular dystrophy R10

medium confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD type 2J · LGMD2J · Limb-girdle muscular dystrophy type 2J · Titin-related LGMD R10

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

Publications

276

68.2th percentile

Trials

0

Interventional, condition-specific

Researchers

944

Distinct authors in sample

Gene link

TTN

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular that usually has a childhood onset (but can range from the first to third decade of life) of severe proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

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 (4)

TTN autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN · muscular dystrophy, limb-girdle, autosomal recessive 10 · muscular dystrophy, limb-girdle, type 2J

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

    Strong — TTN

  2. LiteraturePresent

    276 matched papers (202 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Muscular dystrophy; Fatty replacement of skeletal muscle; Cardiomyopathy) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) 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 (TTN).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0012127

  • Muscular dystrophy
  • Fatty replacement of skeletal muscle
  • Cardiomyopathy
  • Difficulty climbing stairs
  • Distal muscle weakness

Showing 5 of 10 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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?

276

276 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.

276 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).

202 in the last 10 years · medium confidence · 68.2th percentile (publications denominator)

Phrase hits: 140 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

944

Distinct author names in 140 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
    Udd B18 papers · 2024

    Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.

    Papers in Europe PMC
  2. 02
    Vihola A13 papers · 2018

    Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  3. 03
    Hackman P12 papers · 2020

    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  4. 04
    Richard I10 papers · 2021

    Genethon, 91000 Evry, France.

    Papers in Europe PMC
  5. 05
    Gautel M8 papers · 2023

    Randall Division of Cell and Molecular Biophysics, King's College London, London SE1 1UL, UK; Cardiovascular Division, King's College London BHF Centre of Research Excellence, London SE1 1UL, UK. Electronic address: mathias.gautel@kcl.ac.uk.

    Papers in Europe PMC
  6. 06
    Sarparanta J7 papers · 2016

    Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  7. 07
    Charton K6 papers · 2015

    Genethon, CNRS UMR8587 LAMBE, 1 rue de l’Internationale, Evry, France.

    Papers in Europe PMC
  8. 08
    Savarese M6 papers · 2024

    Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  9. 09
    Straub V6 papers · 2017

    Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom. volker.straub@ncl.ac.uk

    Papers in Europe PMC
  10. 10
    Evilä A5 papers · 2018

    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

    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 Titin-related limb-girdle muscular dystrophy R10 — 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.

("Titin-related limb-girdle muscular dystrophy R10" OR "Autosomal recessive limb-girdle muscular dystrophy type 2J" OR "LGMD type 2J" OR "LGMD2J" OR "Limb-girdle muscular dystrophy type 2J" OR "Titin-related LGMD R10" OR "TTN autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" OR "muscular dystrophy, limb-girdle, autosomal recessive 10" OR "muscular dystrophy, limb-girdle, type 2J") OR (MESH:"Muscular Dystrophy, Limb-Girdle, Type 2J") OR ("TTN syndrome" OR "TTN-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Limb-Girdle, Type 2J

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

"Titin-related limb-girdle muscular dystrophy R10" OR "Autosomal recessive limb-girdle muscular dystrophy type 2J" OR "LGMD type 2J" OR "LGMD2J" OR "Limb-girdle muscular dystrophy type 2J" OR "Titin-related LGMD R10" OR "TTN autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" OR "muscular dystrophy, limb-girdle, autosomal recessive 10" OR "muscular dystrophy, limb-girdle, type 2J"

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: 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 (276) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:46:17.228Z