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ORPHA:91130

Cardiomyopathy-hypotonia-lactic acidosis syndrome

low confidenceDisorder

Publications

1,189

Trials

0

Interventional, condition-specific

Researchers

93

Distinct authors in sample

Gene link

SLC25A3

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

--lactic syndrome is characterised by hypertrophic , muscular and the presence of lactic at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a membrane transporter.

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 (1)

hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

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 — SLC25A3

  2. LiteraturePresent

    1,189 matched papers (884 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Hypertrophic cardiomyopathy; Hypotonia; Abnormal mitochondrial shape) 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; 26 for broader category lactic acidosis

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 (SLC25A3).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0012557

  • Hypertrophic cardiomyopathy
  • Hypotonia
  • Abnormal mitochondrial shape
  • Respiratory insufficiency
  • Cyanosis

Showing 5 of 18 — 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?

1,189

1,189 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.

1,189 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).

884 in the last 10 years · low confidence

Phrase hits: 11 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

93

Distinct author names in 12 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
    Artursson P1 paper · 2025

    Department of Pharmacy, Uppsala University, Uppsala, Sweden.

    Papers in Europe PMC
  2. 02
    Asano N1 paper · 2010
    Papers in Europe PMC
  3. 03
    Azimi M1 paper · 2025

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

    Papers in Europe PMC
  4. 04
    Benachi A1 paper · 2013
    Papers in Europe PMC
  5. 05
    Blando S1 paper · 2026

    Department of Biomedical and Neuromotor Sciences (DIBINEM), Cellular Signaling Laboratory - Anatomy Center, University of Bologna, 40126 Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Bonnefont JP1 paper · 2013
    Papers in Europe PMC
  7. 07
    Burlet P1 paper · 2013
    Papers in Europe PMC
  8. 08
    Cantó-Santos J1 paper · 2020

    Muscle Research and Mitochondrial Function Laboratory, CELLEX-IDIBAPS, Faculty of Medicine, University of Barcelona, 08036 Barcelona, Spain.

    Papers in Europe PMC
  9. 09
    Caporali L1 paper · 2026

    Programma di Neurogenetica, IRCCS Istituto Delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Carelli V1 paper · 2026

    Department of Biomedical and Neuromotor Sciences (DIBINEM), Neurology Unit, University of Bologna, 40139 Bologna, 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). 26 trials are registered for lactic acidosis, 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.

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

Broader category: lactic acidosis

26

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 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 Cardiomyopathy-hypotonia-lactic acidosis syndrome — 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.

("Cardiomyopathy-hypotonia-lactic acidosis syndrome" OR "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome") OR (MESH:"Mitochondrial Phosphate Carrier Deficiency") OR ("SLC25A3" OR "SLC25A3 syndrome" OR "SLC25A3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Mitochondrial Phosphate Carrier Deficiency

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

"Cardiomyopathy-hypotonia-lactic acidosis syndrome" OR "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" OR "Mitochondrial Phosphate Carrier Deficiency"

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

Parent-category trials query:

"lactic acidosis"

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 (1189) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:56:32.595Z