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ORPHA:43115

Hereditary myopathy with lactic acidosis due to ISCU deficiency

low confidenceDisorder

Also known as: ISCU-related myopathy · Myopathy due to succinate dehydrogenase and aconitase deficiency · Myopathy with exercise intolerance, Swedish type

Publications

2,480

Trials

0

Interventional, condition-specific

Researchers

692

Distinct authors in sample

Gene link

ISCU

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of energy metabolism characterized clinically by with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle respiratory chain enzymes, succinate dehydrogenase and aconitase.

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)

ISCU myopathy · aconitase deficiency · iron-sulfur cluster deficiency myopathy · myopathy with exercise intolerance, Swedish type

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 — ISCU

  2. LiteraturePresent

    2,480 matched papers (1,516 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Rhabdomyolysis; Elevated circulating creatine kinase activity; Myopathy) 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; 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 (ISCU).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0009706

  • Rhabdomyolysis
  • Elevated circulating creatine kinase activity
  • Myopathy
  • Hypotonia
  • Muscle spasm

Showing 5 of 32 — 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?

2,480

2,480 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.

2,480 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).

1,516 in the last 10 years · low confidence

Phrase hits: 116 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

692

Distinct author names in 116 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
    Rouault TA17 papers · 2022

    Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, Bethesda, MD 20892, USA. Electronic address: rouault@mail.nih.gov.

    Papers in Europe PMC
  2. 02
    Haller RG12 papers · 2023

    Department of Neurology, Department of Veterans Affairs Medical Center, Dallas, Texas 75216.

    Papers in Europe PMC
  3. 03
    Ghosh MC7 papers · 2021

    Metals Biology and Molecular Medicine Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; and.

    Papers in Europe PMC
  4. 04
    Maio N7 papers · 2022

    Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 9000 Rockville Pike, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  5. 05
    Tong WH6 papers · 2018

    Metals Biology and Molecular Medicine Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; and.

    Papers in Europe PMC
  6. 06
    Crooks DR5 papers · 2018

    Department of Biochemistry, Molecular and Cellular Biology, Georgetown University Medical Center, Washington, DC, USA.

    Papers in Europe PMC
  7. 07
    Hirano M4 papers · 2023

    Department of Neurology, H. Houston Merritt Center, Columbia Translational Neuroscience Initiative, Columbia University Irving Medical Center, New York, NY, United States

    Papers in Europe PMC
  8. 08
    Stemmler TL4 papers · 2022

    Departments of Pharmaceutical Science, and Biochemistry and Molecular Biology, Wayne State University, Detroit, MI 48201, USA.

    Papers in Europe PMC
  9. 09
    Taivassalo T4 papers · 2023

    Department of Physiology and Functional Genomics, Clinical and Translational Research Building, University of Florida, Gainesville, FL, United states

    Papers in Europe PMC
  10. 10
    Dancis A3 papers · 2022

    Department of Medicine, Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

    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. 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

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.

None of the matched observational studies is currently listed as 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 Hereditary myopathy with lactic acidosis due to ISCU deficiency — 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.

("Hereditary myopathy with lactic acidosis due to ISCU deficiency" OR "ISCU-related myopathy" OR "Myopathy due to succinate dehydrogenase and aconitase deficiency" OR "Myopathy with exercise intolerance, Swedish type" OR "ISCU myopathy" OR "aconitase deficiency" OR "iron-sulfur cluster deficiency myopathy") OR ("ISCU" OR "ISCU syndrome" OR "ISCU-related")

Run this search on Europe PMC

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

"Hereditary myopathy with lactic acidosis due to ISCU deficiency" OR "ISCU-related myopathy" OR "Myopathy due to succinate dehydrogenase and aconitase deficiency" OR "Myopathy with exercise intolerance, Swedish type" OR "ISCU myopathy" OR "aconitase deficiency" OR "iron-sulfur cluster deficiency myopathy"

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; 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 (2480) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:05:49.055Z