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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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,260

Trials

4

Interventional, condition-specific

Researchers

1,189

Distinct authors in sample

Gene link

TAFAZZIN

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — TAFAZZIN

  2. LiteraturePresent

    2,260 matched papers (1,454 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

2,260

2,260 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=5449) is 41.

2,260 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).

1,454 in the last 10 years · low confidence

Phrase hits: 2,260 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,189

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
    Maack C11 papers · 2026

    Comprehensive Heart Failure Center, University Clinic Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  2. 02
    Vernon HJ10 papers · 2026

    Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

    Papers in Europe PMC
  3. 03
    Strathdee D9 papers · 2025

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

    Papers in Europe PMC
  4. 04
    Vaz FM9 papers · 2025

    Department of Laboratory Medicine and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.

    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
    Dudek J8 papers · 2026

    German Center for Heart Failure, Faculty of Medicine, University of Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  7. 07
    Conway SJ7 papers · 2026

    Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

    Papers in Europe PMC
  8. 08
    Houtkooper RH7 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
  9. 09
    Chin MT6 papers · 2026

    Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA 02111, USA.

    Papers in Europe PMC
  10. 10
    Greenberg ML6 papers · 2026

    Department of Biological Sciences, Wayne State University, Detroit, Michigan, USA. Electronic address: mgreenberg@wayne.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 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

low confidence · 86.7th 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

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 2026-07-26

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"

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" OR "TAFAZZIN"

Recall-expansion terms: TAFAZZIN

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: suspect — strategies attempted: phrase, recall-expansion; 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