ORPHA:171690
Metabolic myopathy due to lactate transporter defect
Also known as: Erythrocyte lactate transporter defect
Publications
8
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
69
Distinct authors in sample
Gene link
SLC16A1
Limited
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009501
- MeSH:C565449
- OMIM:245340
- UMLS:C1855577
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — SLC16A1
- LiteraturePresent
8 matched papers (6 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
8
8 papers have ever been indexed 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.
8 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).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 1
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.
- 01Giacomini 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 - 02Hussain K2 papers · 2019
Department of Paediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar. khussain@sidra.org.
Papers in Europe PMC - 03Yee 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 - 04Al-Khawaga S1 paper · 2019
Department of Paediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar. SarAlKhawaga@hbku.edu.qa.
Papers in Europe PMC - 05Anikster Y1 paper · 2017
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Papers in Europe PMC - 06Aran A1 paper · 2017
Hadassah Medical School, Hebrew University, Jerusalem, Israel.
Papers in Europe PMC - 07Artursson P1 paper · 2025
Department of Pharmacy, Uppsala University, Uppsala, Sweden.
Papers in Europe PMC - 08Awan FM1 paper · 2022
Department of Medical Lab Technology, The University of Haripur, Haripur, Pakistan.
Papers in Europe PMC - 09Azimi M1 paper · 2025
Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.
Papers in Europe PMC - 10Bachis 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 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.
high 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.
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.
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 2026-07-26This 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"
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" OR "SLC16A1"
Recall-expansion terms: SLC16A1
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, recall-expansion; 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
Ingested 2026-07-27T08:41:36.221Z