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ORPHA:2593

Tubular aggregate myopathy

medium confidenceDisorder

Publications

329

82th percentile

Trials

0

Interventional, condition-specific

Researchers

1,269

Distinct authors in sample

Gene link

ORAI1, STIM1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.

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)

myopathy, tubular aggregate, type 1 · tubular aggregate 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ORAI1, STIM1

  2. LiteraturePresent

    329 matched papers (252 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 181 for broader category myopathy

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 (ORAI1, STIM1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

329

329 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=5449) is 41.

329 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

252 in the last 10 years · medium confidence · 82th percentile (publications denominator)

Phrase hits: 329 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,269

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
    Böhm J26 papers · 2026

    Département de Médecine Translationelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

    Papers in Europe PMC
  2. 02
    Laporte J21 papers · 2026

    Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.

    Papers in Europe PMC
  3. 03
    Dirksen RT9 papers · 2026

    Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.

    Papers in Europe PMC
  4. 04
    Silva-Rojas R9 papers · 2025

    Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.

    Papers in Europe PMC
  5. 05
    Protasi F8 papers · 2025

    DMSI, Department of Medicine and Aging Sciences & CAST, Center for Advanced Studies and Technology, University G. d'Annunzio of Chieti-Pescara, 66100 Chieti, Italy.

    Papers in Europe PMC
  6. 06
    Fahrner M7 papers · 2026

    Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.

    Papers in Europe PMC
  7. 07
    Romero NB7 papers · 2024

    Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  8. 08
    Chevessier F6 papers · 2023

    CureVac AG, Tübingen, Germany.

    Papers in Europe PMC
  9. 09
    Derler I6 papers · 2026

    Institute of Biophysics, JKU Life Science Center, Johannes Kepler University Linz, A-4020 Linz, Austria.

    Papers in Europe PMC
  10. 10
    Lee EH6 papers · 2026

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

    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. 181 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th 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.

181 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myopathy

181

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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Tubular aggregate myopathy" OR "myopathy, tubular aggregate, type 1"

Run this search on Europe PMC

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

"Tubular aggregate myopathy" OR "myopathy, tubular aggregate, type 1" OR "ORAI1" OR "STIM1"

Recall-expansion terms: ORAI1, STIM1

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

Parent-category trials query:

"myopathy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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

Ingested 2026-07-26T20:38:22.596Z