RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:2593

Tubular aggregate myopathy

low confidenceDisorder

Publications

10,450

Trials

0

Interventional, condition-specific

Researchers

1,269

Distinct authors in sample

Gene link

ORAI1, STIM1

Definitive

Readiness

5/6

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.”

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 — ORAI1, STIM1

  2. LiteraturePresent

    10,450 matched papers (7,293 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Type 2 muscle fiber atrophy; Muscle spasm; Fatigable weakness) Source

  4. Animal modelPresent

    4 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; 182 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)

43

Associated phenotypes · MONDO:0008051

  • Type 2 muscle fiber atrophy
  • Muscle spasm
  • Fatigable weakness
  • Myalgia
  • EMG: myopathic abnormalities

Showing 5 of 43 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

10,450

10,450 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,450 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).

7,293 in the last 10 years · low confidence

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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 182 trials are registered for myopathy, 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.

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

Broader category: myopathy

182

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

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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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).

Uncertain / not reviewed (59)

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 Tubular aggregate myopathy — 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.

("Tubular aggregate myopathy" OR "myopathy, tubular aggregate, type 1") OR ("ORAI1" OR "ORAI1 syndrome" OR "ORAI1-related" OR "STIM1" OR "STIM1 syndrome" OR "STIM1-related")

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"

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

Parent-category trials query:

"myopathy"

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 (10450) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

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