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ORPHA:1878

TRIM32-related limb-girdle muscular dystrophy R8

low confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD due to TRIM32 deficiency · LGMD type 2H · LGMD2H · Limb-girdle muscular dystrophy due to TRIM32 deficiency · Limb-girdle muscular dystrophy type 2H · Sarcotubular myopathy · TRIM32-related LGMD R8

Publications

2,227

Trials

0

Interventional, condition-specific

Researchers

1,164

Distinct authors in sample

Gene link

TRIM32

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A mild subtype of limb girdle muscular characterized by slowly proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

TRIM32 autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32 · autosomal recessive limb-girdle muscular dystrophy type 2H · limb-girdle muscular dystrophy due to TRIM32 deficiency · muscular dystrophy, limb-girdle, autosomal recessive 8 · sarcotubular myopathy

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 — TRIM32

  2. LiteraturePresent

    2,227 matched papers (1,572 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Waddling gait; Proximal lower limb muscle weakness; Tall stature) Source

  4. Animal modelPresent

    2 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 (TRIM32).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0009683

  • Waddling gait
  • Proximal lower limb muscle weakness
  • Tall stature
  • Mask-like facies
  • Gait disturbance

Showing 5 of 31 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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?

2,227

2,227 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.

2,227 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).

1,572 in the last 10 years · low confidence

Phrase hits: 264 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,164

Distinct author names in 200 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
    Spencer MJ9 papers · 2024

    Department of Neurology, University of California, Los Angeles, California.

    Papers in Europe PMC
  2. 02
    Wrogemann K8 papers · 2012
    Papers in Europe PMC
  3. 03
    Meroni G7 papers · 2026

    Department of Life Sciences, University of Trieste and Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. Electronic address: gmeroni@units.it.

    Papers in Europe PMC
  4. 04
    Geisbrecht ER6 papers · 2021

    Department of Biochemistry and Molecular Biophysics, Kansas State University, Manhattan, KS, 66506, USA. geisbrechte@ksu.edu.

    Papers in Europe PMC
  5. 05
    Kudryashova E6 papers · 2015

    Department of Neurology, Center for Duchenne Muscular Dystrophy at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1606, USA.

    Papers in Europe PMC
  6. 06
    Di Rienzo M5 papers · 2024

    Department of Epidemiology, Preclinical Research and Advanced Diagnostics, National Institute for Infectious Diseases IRCCS 'L. Spallanzani', Rome, Italy.

    Papers in Europe PMC
  7. 07
    Fimia GM5 papers · 2024

    Department of Epidemiology, Preclinical Research and Advanced Diagnostics, National Institute for Infectious Diseases IRCCS 'L. Spallanzani', Rome, Italy. gianmaria.fimia@inmi.it.

    Papers in Europe PMC
  8. 08
    Frosk P5 papers · 2006

    Department of Biochemistry, University of Manitoba, Winnipeg, Canada.

    Papers in Europe PMC
  9. 09
    Greenberg CR5 papers · 2016

    Departments of Biochemistry & Medical GeneticsUniversity of ManitobaWinnipegCanada; Pediatrics & Child HealthUniversity of Manitoba745 Bannatyne Ave.WinnipegMB R3E 0J9Canada; The Manitoba Institute of Child Health513-715 McDermot Ave.WinnipegMB R3E 3P4Canada.

    Papers in Europe PMC
  10. 10
    Lazzari E5 papers · 2026

    Department of Life Sciences, University of Trieste and Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

    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 9 September 2026 · last trial check 9 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

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase

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 2026-07-27

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 TRIM32-related limb-girdle muscular dystrophy R8 — 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.

("TRIM32-related limb-girdle muscular dystrophy R8" OR "Autosomal recessive limb-girdle muscular dystrophy type 2H" OR "LGMD due to TRIM32 deficiency" OR "LGMD type 2H" OR "LGMD2H" OR "Limb-girdle muscular dystrophy due to TRIM32 deficiency" OR "Limb-girdle muscular dystrophy type 2H" OR "Sarcotubular myopathy" OR "TRIM32-related LGMD R8" OR "TRIM32 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" OR "muscular dystrophy, limb-girdle, autosomal recessive 8") OR (MESH:"Limb-girdle muscular dystrophy type 2H") OR ("TRIM32" OR "TRIM32 syndrome" OR "TRIM32-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Limb-girdle muscular dystrophy type 2H

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

"TRIM32-related limb-girdle muscular dystrophy R8" OR "Autosomal recessive limb-girdle muscular dystrophy type 2H" OR "LGMD due to TRIM32 deficiency" OR "LGMD type 2H" OR "LGMD2H" OR "Limb-girdle muscular dystrophy due to TRIM32 deficiency" OR "Limb-girdle muscular dystrophy type 2H" OR "Sarcotubular myopathy" OR "TRIM32-related LGMD R8" OR "TRIM32 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" OR "muscular dystrophy, limb-girdle, autosomal recessive 8"

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: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (2227) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T02:29:58.469Z