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ORPHA:171690

Metabolic myopathy due to lactate transporter defect

low confidenceDisorder

Also known as: Erythrocyte lactate transporter defect

Publications

7,929

Trials

0

Interventional, condition-specific

Researchers

69

Distinct authors in sample

Gene link

SLC16A1

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

due to lactate transporter defect is a rare characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

erythrocyte lactate transporter defect

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

    Limited — SLC16A1

  2. LiteraturePresent

    7,929 matched papers (6,073 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. EMG abnormality; Elevated circulating creatine kinase activity; Exercise-induced muscle fatigue) 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; 2 for broader category metabolic 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?

Possibly — only limited evidence so far for SLC16A1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

5

Associated phenotypes · MONDO:0009501

  • EMG abnormality
  • Elevated circulating creatine kinase activity
  • Exercise-induced muscle fatigue
  • Exercise-induced muscle cramps
  • Exercise-induced muscle stiffness

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?

7,929

7,929 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.

7,929 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).

6,073 in the last 10 years · low confidence

Phrase hits: 8 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

69

Distinct author names in 8 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
    Giacomini KM2 papers · 2025

    1] Department of Bioengineering and Therapeutic Sciences, Schools of Pharmacy and Medicine, University of California San Francisco, San Francisco, California 94158, USA. [2] Institute for Human Genetics, University of California San Francisco, San Francisco, California 94158, USA.

    Papers in Europe PMC
  2. 02
    Hussain K2 papers · 2019

    Department of Paediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar. khussain@sidra.org.

    Papers in Europe PMC
  3. 03
    Yee SW2 papers · 2025

    Department of Bioengineering and Therapeutic Sciences, Schools of Pharmacy and Medicine, University of California San Francisco, San Francisco, California 94158, USA.

    Papers in Europe PMC
  4. 04
    Al-Khawaga S1 paper · 2019

    Department of Paediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar. SarAlKhawaga@hbku.edu.qa.

    Papers in Europe PMC
  5. 05
    Anikster Y1 paper · 2017

    Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

    Papers in Europe PMC
  6. 06
    Aran A1 paper · 2017

    Hadassah Medical School, Hebrew University, Jerusalem, Israel.

    Papers in Europe PMC
  7. 07
    Artursson P1 paper · 2025

    Department of Pharmacy, Uppsala University, Uppsala, Sweden.

    Papers in Europe PMC
  8. 08
    Awan FM1 paper · 2022

    Department of Medical Lab Technology, The University of Haripur, Haripur, Pakistan.

    Papers in Europe PMC
  9. 09
    Azimi M1 paper · 2025

    Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.

    Papers in Europe PMC
  10. 10
    Bachis V1 paper · 2015

    Department of Life and Environmental Sciences, University of Cagliari, Cagliari, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for metabolic 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.

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

Broader category: metabolic myopathy

2

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.

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 Metabolic myopathy due to lactate transporter defect — 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.

("Metabolic myopathy due to lactate transporter defect" OR "Erythrocyte lactate transporter defect") OR (MESH:"Erythrocyte Lactate Transporter Defect") OR ("SLC16A1" OR "SLC16A1 syndrome" OR "SLC16A1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Erythrocyte Lactate Transporter Defect

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

"Metabolic myopathy due to lactate transporter defect" OR "Erythrocyte lactate transporter defect"

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

Parent-category trials query:

"metabolic myopathy"

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 (7929) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:41:36.221Z