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ORPHA:111

Barth syndrome

low confidenceDisorder

Also known as: 3-methylglutaconic aciduria type 2 · BTHS · Cardioskeletal myopathy with neutropenia and abnormal mitochondria · Cardioskeletal myopathy-neutropenia syndrome · MGA2 · X-linked cardioskeletal myopathy and neutropenia

Publications

3,705

Trials

4

Interventional, condition-specific

Researchers

1,168

Distinct authors in sample

Gene link

TAFAZZIN

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated (DCM), skeletal , neutropenia, growth delay and organic aciduria.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Barth syndrome, X-linked recessive · cardioskeletal myopathy with neutropenia and abnormal mitochondria · cardioskeletal myopathy-neutropenia 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TAFAZZIN

  2. LiteraturePresent

    3,705 matched papers (2,515 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Endocardial fibroelastosis; Motor delay; Arrhythmia) Source

  4. Animal modelPresent

    8 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 1 EMA designations (2 FDA orphan-indication approvals) — e.g. elamipretide Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (TAFAZZIN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0010543

  • Endocardial fibroelastosis
  • Motor delay
  • Arrhythmia
  • Gowers sign
  • Failure to thrive

Showing 5 of 41 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

3

Designations · 2 with FDA orphan-indication approval

  • FDA elamipretideBarth Syndrome · 2018-03-22 · Not FDA Approved for Orphan Indication
  • FDA bezafibrateBarth Syndrome · 2013-07-24 · Not FDA Approved for Orphan Indication
  • EMA elamipretideTreatment of Barth syndrome · 20/05/2021 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0010543

CTD chemicals (MyDisease.info)

3 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ketoconazole · therapeutic
  • Linoleic Acid · therapeutic
  • Cardiolipins · marker/mechanism

Pathways: Glycerophospholipid metabolism; Mitochondrial protein import; Metabolism; Acyl chain remodeling of CL; Glycerophospholipid biosynthesis; Phospholipid metabolism; Metabolism of proteins; Metabolism of lipids and lipoproteins

MyDisease.info · MONDO:0010543

Literature

Is anyone studying this?

3,705

3,705 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.

3,705 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).

2,515 in the last 10 years · low confidence

Phrase hits: 2,260 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,168

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Vernon HJ11 papers · 2026

    Department of Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    Papers in Europe PMC
  2. 02
    Maack C10 papers · 2026

    Department of Translational Research, Comprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Am Schwarzenberg 15, Haus A15, 97078, Würzburg, Germany.

    Papers in Europe PMC
  3. 03
    Strathdee D10 papers · 2025

    Transgenic Technology Laboratory, Cancer Research UK Beatson Institute, Switchback Road, Glasgow G61 1BD, UK.

    Papers in Europe PMC
  4. 04
    Chin MT8 papers · 2026

    Molecular Cardiology Research Institute, Tufts Medical Center, Boston, Massachusetts, USA.

    Papers in Europe PMC
  5. 05
    Claypool SM8 papers · 2026

    Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Mitochondrial Phospholipid Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    Papers in Europe PMC
  6. 06
    Greenberg ML8 papers · 2026

    Department of Biological Sciences, Wayne State University, Detroit, MI, United States.

    Papers in Europe PMC
  7. 07
    Houtkooper RH8 papers · 2025

    Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam 1105AZ, The Netherlands.

    Papers in Europe PMC
  8. 08
    Schlame M8 papers · 2026

    Department of Anesthesiology, New York University School of Medicine, New York, NY, USA.

    Papers in Europe PMC
  9. 09
    Vaz FM8 papers · 2025

    Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam 1105AZ, The Netherlands.

    Papers in Europe PMC
  10. 10
    Conway SJ7 papers · 2026

    Department of Pediatrics, Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN, 46202, USA. siconway@iu.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

3 observational studies match 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.

Recruiting or not-yet-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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Barth syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Barth syndrome" OR "3-methylglutaconic aciduria type 2" OR "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" OR "Cardioskeletal myopathy-neutropenia syndrome" OR "X-linked cardioskeletal myopathy and neutropenia" OR "Barth syndrome, X-linked recessive") OR ("TAFAZZIN" OR "TAFAZZIN syndrome" OR "TAFAZZIN-related")

Run this search on Europe PMC

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

"Barth syndrome" OR "3-methylglutaconic aciduria type 2" OR "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" OR "Cardioskeletal myopathy-neutropenia syndrome" OR "X-linked cardioskeletal myopathy and neutropenia" OR "Barth syndrome, X-linked recessive"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 3 observational · 2 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BTHS; MGA2

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:27:55.588Z