Barth syndrome

Summary

Barth syndrome (MONDO:0010543) is a disease caused by TAFAZZIN (GenCC Definitive), with 5 cohort genes and 9 clinical trials. Top therapeutic interventions include triheptanoin and elamipretide.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: TAFAZZIN (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 509
• Phenotypes (HPO): 4
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.22	Europe	Validated
Prevalence at birth	1-9 / 1 000 000	0.29	United States	Validated
Prevalence at birth	1-9 / 1 000 000	0.15	France	Validated
Prevalence at birth	1-9 / 1 000 000	0.71	United Kingdom	Validated

Signs & symptoms

Clinical features (HPO)

4 HPO clinical features (Orphanet curated; top 4 by frequency):

HPO ID	Term	Frequency
HP:0001644	Dilated cardiomyopathy	Very frequent (80-99%)
HP:0001706	Endocardial fibroelastosis	Frequent (30-79%)
HP:0001874	Abnormality of neutrophils	Frequent (30-79%)
HP:0008322	Abnormal mitochondrial morphology	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Barth syndrome
Mondo ID	MONDO:0010543
MeSH	D056889
OMIM	302060
Orphanet	111
DOID	DOID:0050476
ICD-10-CM	E78.71
ICD-11	452199926
NCIT	C84585
SNOMED CT	297231002
UMLS	C0574083
MedGen	107893
GARD	0005890
NORD	840
Is cancer (heuristic)	no

Also known as: 3-methylglutaconic aciduria type 2 · 3-methylglutaconic aciduria type II · Barth syndrome · Barth syndrome, X-linked recessive · BTHS · cardioskeletal myopathy with neutropenia and abnormal mitochondria · cardioskeletal myopathy-neutropenia syndrome · MGA2 · TAZ defect · X-linked cardioskeletal myopathy and neutropenia

Data availability: 509 ClinVar variants · 3 GenCC gene-disease records · 26 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › congenital myopathy › congenital structural myopathy › inborn mitochondrial myopathy › Barth syndrome

Related subtypes (23): myopathy, lactic acidosis, and sideroblastic anemia, mitochondrial encephalomyopathy, progressive external ophthalmoplegia, mitochondrial myopathy with a defect in mitochondrial-protein transport, mitochondrial myopathy with diabetes, mitochondrial myopathy with reversible cytochrome C oxidase deficiency, lethal infantile mitochondrial myopathy, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, mitochondrial trifunctional protein deficiency, adenosine monophosphate deaminase deficiency, congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, autosomal dominant mitochondrial myopathy with exercise intolerance, fatal infantile encephalocardiomyopathy, mitochondrial myopathy-lactic acidosis-deafness syndrome, mitochondrial neurogastrointestinal encephalomyopathy, adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, maternally-inherited progressive external ophthalmoplegia, mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, mitochondrial complex II deficiency, nuclear type, mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, X-linked recessive mitochondrial myopathy, mitochondrial complex I deficiency, nuclear type 1, COX deficiency, benign infantile mitochondrial myopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

509 retrieved; paginated sample, class counts are floors:

187 uncertain significance, 186 likely benign, 41 likely pathogenic, 39 pathogenic, 31 conflicting classifications of pathogenicity, 12 pathogenic/likely pathogenic, 9 benign/likely benign, 4 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2422157	NC_000023.10:g.(?152014869)(155171615_?)del	ABCD1	Pathogenic	criteria provided, single submitter
3243728	NC_000023.10:g.(?152954030)(154005142_?)del	ABCD1	Pathogenic	criteria provided, single submitter
1073013	NM_000116.5(TAFAZZIN):c.109+5G>A	DNASE1L1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070847	NC_000023.10:g.(?153640161)(153649363_?)del	TAFAZZIN	Pathogenic	criteria provided, single submitter
1070848	NC_000023.10:g.(?153639844)(153642537_?)del	TAFAZZIN	Pathogenic	criteria provided, single submitter
1070849	NC_000023.10:g.(?153647872)(153650075_?)del	TAFAZZIN	Pathogenic	criteria provided, single submitter
1072332	NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)	TAFAZZIN	Pathogenic	criteria provided, single submitter
1075571	NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)	TAFAZZIN	Pathogenic	criteria provided, single submitter
11100	NM_000116.5(TAFAZZIN):c.239-1G>A	TAFAZZIN	Pathogenic	no assertion criteria provided
11101	NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	TAFAZZIN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11102	NM_000116.5(TAFAZZIN):c.239-1G>C	TAFAZZIN	Pathogenic	no assertion criteria provided
11103	NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	TAFAZZIN	Pathogenic	criteria provided, single submitter
11104	NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)	TAFAZZIN	Pathogenic	no assertion criteria provided
11105	NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)	TAFAZZIN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11107	NM_000116.5(TAFAZZIN):c.284+110G>A	TAFAZZIN	Pathogenic	no assertion criteria provided
11109	NM_000116.5(TAFAZZIN):c.110-2A>G	TAFAZZIN	Pathogenic	criteria provided, multiple submitters, no conflicts
11110	NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)	TAFAZZIN	Pathogenic	no assertion criteria provided
11111	NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)	TAFAZZIN	Pathogenic	no assertion criteria provided
11112	NM_000116.5(TAFAZZIN):c.647-1G>C	TAFAZZIN	Pathogenic	no assertion criteria provided
1704478	NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)	TAFAZZIN	Pathogenic	criteria provided, multiple submitters, no conflicts
177908	NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)	TAFAZZIN	Pathogenic	criteria provided, single submitter
1922509	NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)	TAFAZZIN	Pathogenic	criteria provided, single submitter
1966105	NM_000116.5(TAFAZZIN):c.238+1del	TAFAZZIN	Pathogenic	criteria provided, single submitter
202091	NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter)	TAFAZZIN	Pathogenic	criteria provided, multiple submitters, no conflicts
202092	NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)	TAFAZZIN	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
202093	NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)	TAFAZZIN	Pathogenic	criteria provided, multiple submitters, no conflicts
2112174	NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)	TAFAZZIN	Pathogenic	criteria provided, multiple submitters, no conflicts
2127122	NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)	TAFAZZIN	Pathogenic	criteria provided, single submitter
2138791	NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)	TAFAZZIN	Pathogenic	criteria provided, single submitter
234475	NM_000116.5(TAFAZZIN):c.461-2A>G	TAFAZZIN	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 11 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
TAFAZZIN	Definitive	X-linked	Barth syndrome	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TAFAZZIN	Orphanet:111	Barth syndrome
TAFAZZIN	Orphanet:154	Familial isolated dilated cardiomyopathy
LAGE3	Orphanet:2065	Galloway-Mowat syndrome
IKBKG	Orphanet:464	Incontinentia pigmenti
IKBKG	Orphanet:69088	Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
IKBKG	Orphanet:699605	NEMO deleted exon 5 autoinflammatory syndrome
IKBKG	Orphanet:98813	Hypohidrotic ectodermal dysplasia with immunodeficiency
ABCD1	Orphanet:139396	X-linked cerebral adrenoleukodystrophy
ABCD1	Orphanet:139399	Adrenomyeloneuropathy
ABCD1	Orphanet:369942	CADDS
ABCD1	Orphanet:388	Hirschsprung disease

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TAFAZZIN	HGNC:11577	ENSG00000102125	Q16635	Tafazzin	gencc,clinvar
LAGE3	HGNC:26058	ENSG00000196976	Q14657	EKC/KEOPS complex subunit LAGE3	clinvar
DNASE1L1	HGNC:2957	ENSG00000013563	P49184	Deoxyribonuclease-1-like 1	clinvar
IKBKG	HGNC:5961	ENSG00000269335	Q9Y6K9	NF-kappa-B essential modulator	clinvar
ABCD1	HGNC:61	ENSG00000101986	P33897	ATP-binding cassette sub-family D member 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TAFAZZIN	Tafazzin	Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1’,3’-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary fo…
LAGE3	EKC/KEOPS complex subunit LAGE3	Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine.
IKBKG	NF-kappa-B essential modulator	Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor.
ABCD1	ATP-binding cassette sub-family D member 1	ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.4

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Phosphatase	1	16.8×	0.094
Transporter	1	15.6×	0.094
Other/Unknown	3	1.1×	0.608

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TAFAZZIN	Other/Unknown	no		Tafazzin, Plipid/glycerol_acylTrfase
LAGE3	Other/Unknown	no		CTAG/Pcc1
DNASE1L1	Phosphatase	yes		Endo/exonuclease/phosphatase, DNase_I, Deoxyribonuclease-1_AS
IKBKG	Other/Unknown	no		NEMO_N, CC2-LZ_dom, NEMO_ZF
ABCD1	Transporter	yes	7.6.2.4	ABC_transporter-like_ATP-bd, AAA+_ATPase, FA_transporter

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
granulocyte	2
apex of heart	1
lower esophagus mucosa	1
Brodmann (1909) area 10	1
oocyte	1
secondary oocyte	1
gastrocnemius	1
gluteal muscle	1
hindlimb stylopod muscle	1
blood	1
spleen	1
ileal mucosa	1
left adrenal gland	1
left adrenal gland cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TAFAZZIN	238	ubiquitous	marker	apex of heart, granulocyte, lower esophagus mucosa
LAGE3	273	ubiquitous	marker	oocyte, secondary oocyte, Brodmann (1909) area 10
DNASE1L1	283	ubiquitous	marker	hindlimb stylopod muscle, gastrocnemius, gluteal muscle
IKBKG	134	ubiquitous	marker	granulocyte, blood, spleen
ABCD1	201	ubiquitous	marker	ileal mucosa, left adrenal gland cortex, left adrenal gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IKBKG	4,981
TAFAZZIN	1,754
ABCD1	1,181
DNASE1L1	1,012
LAGE3	870

Structural data

PDB: 3 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IKBKG	Q9Y6K9	17
ABCD1	P33897	14
LAGE3	Q14657	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TAFAZZIN	Q16635	94.87
DNASE1L1	P49184	90.83

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 112. Enrichment computed across 5 evidence-associated genes (5 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Protein localization	2	76.1×	0.030	TAFAZZIN, ABCD1
Defective ABCD1 causes ALD	1	1142.0×	0.035	ABCD1
IKBKB deficiency causes SCID	1	761.3×	0.035	IKBKG
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)	1	761.3×	0.035	IKBKG
Acyl chain remodeling of CL	1	380.7×	0.035	TAFAZZIN
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	1	380.7×	0.035	ABCD1
SLC15A4:TASL-dependent IRF5 activation	1	380.7×	0.035	IKBKG
IkBA variant leads to EDA-ID	1	326.3×	0.035	IKBKG
Linoleic acid (LA) metabolism	1	228.4×	0.035	ABCD1
ZBP1(DAI) mediated induction of type I IFNs	1	207.6×	0.035	IKBKG
SUMOylation of immune response proteins	1	190.3×	0.035	IKBKG
Beta-oxidation of very long chain fatty acids	1	175.7×	0.035	ABCD1
Diseases of Immune System	1	175.7×	0.035	IKBKG
Diseases associated with the TLR signaling cascade	1	175.7×	0.035	IKBKG
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10	1	175.7×	0.035	IKBKG
Downstream signaling events of B Cell Receptor (BCR)	1	163.1×	0.035	IKBKG
IRAK1 recruits IKK complex	1	163.1×	0.035	IKBKG
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	1	163.1×	0.035	IKBKG
alpha-linolenic acid (ALA) metabolism	1	142.8×	0.035	ABCD1
MAP3K8 (TPL2)-dependent MAPK1/3 activation	1	142.8×	0.035	IKBKG
RIP-mediated NFkB activation via ZBP1	1	134.3×	0.035	IKBKG
Peroxisomal lipid metabolism	1	134.3×	0.035	ABCD1
Regulation of NF-kappa B signaling	1	126.9×	0.035	IKBKG
ABC transporters in lipid homeostasis	1	120.2×	0.035	ABCD1
TICAM1, RIP1-mediated IKK complex recruitment	1	120.2×	0.035	IKBKG
Modulation of host responses by IFN-stimulated genes	1	120.2×	0.035	IKBKG
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1	1	103.8×	0.035	IKBKG
Class I peroxisomal membrane protein import	1	103.8×	0.035	ABCD1
TCR signaling	1	99.3×	0.035	IKBKG
activated TAK1 mediates p38 MAPK activation	1	99.3×	0.035	IKBKG

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
peroxisomal membrane transport	1	1685.2×	0.008	ABCD1
very long-chain fatty-acyl-CoA catabolic process	1	1685.2×	0.008	ABCD1
positive regulation of cardiolipin metabolic process	1	1685.2×	0.008	TAFAZZIN
positive regulation of unsaturated fatty acid biosynthetic process	1	1123.5×	0.008	ABCD1
cardiolipin acyl-chain remodeling	1	842.6×	0.008	TAFAZZIN
sterol homeostasis	1	842.6×	0.008	ABCD1
long-chain fatty acid import into peroxisome	1	674.1×	0.008	ABCD1
regulation of fatty acid beta-oxidation	1	561.7×	0.008	ABCD1
long-chain fatty acid catabolic process	1	561.7×	0.008	ABCD1
myelin maintenance	1	561.7×	0.008	ABCD1
regulation of mitochondrial depolarization	1	561.7×	0.008	ABCD1
tRNA threonylcarbamoyladenosine metabolic process	1	561.7×	0.008	LAGE3
fatty acid elongation	1	481.5×	0.008	ABCD1
very long-chain fatty acid catabolic process	1	481.5×	0.008	ABCD1
establishment of vesicle localization	1	481.5×	0.008	IKBKG
positive regulation of fatty acid beta-oxidation	1	306.4×	0.011	ABCD1
fatty acid derivative biosynthetic process	1	306.4×	0.011	ABCD1
anoikis	1	259.3×	0.011	IKBKG
regulation of cellular response to oxidative stress	1	259.3×	0.011	ABCD1
regulation of oxidative phosphorylation	1	240.7×	0.011	ABCD1
positive regulation of ATP biosynthetic process	1	240.7×	0.011	TAFAZZIN
neuron projection maintenance	1	224.7×	0.011	ABCD1
DNA metabolic process	1	210.7×	0.011	DNASE1L1
cristae formation	1	210.7×	0.011	TAFAZZIN
negative regulation of reactive oxygen species biosynthetic process	1	198.3×	0.011	ABCD1
DNA catabolic process	1	187.2×	0.011	DNASE1L1
fatty acid homeostasis	1	187.2×	0.011	ABCD1
alpha-linolenic acid metabolic process	1	177.4×	0.011	ABCD1
inner mitochondrial membrane organization	1	168.5×	0.011	TAFAZZIN
tRNA processing	1	168.5×	0.011	LAGE3

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Elamipretide.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 5

Druggability breadth: 3 of 5 evidence-associated genes (60%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TAFAZZIN	0	0
LAGE3	0	0
DNASE1L1	0	0
IKBKG	0	0
ABCD1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
IKBKG	38	Binding:30, Functional:8
TAFAZZIN	1	Binding:1
LAGE3	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ABCD1	7.6.2.4	ABC-type fatty-acyl-CoA transporter

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	ABCD1
D	Druggable family + AlphaFold only, no drug	1	DNASE1L1
E	Difficult family or no structure, no drug	3	TAFAZZIN, LAGE3, IKBKG

Undrugged target profiles

5 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TAFAZZIN	1	—
LAGE3	1	—
DNASE1L1	0	—
IKBKG	38	—
ABCD1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE4	1
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07531251	PHASE4	NOT_YET_RECRUITING	Clinical Trial in Patients With Barth Syndrome- 4TAZPower
NCT03098797	PHASE2/PHASE3	COMPLETED	A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04689360	Not specified	AVAILABLE	An Intermediate Size Expanded Access Protocol of Elamipretide
NCT05554835	Not specified	RECRUITING	Global Registry and Natural History Study for Mitochondrial Disorders
NCT01194141	Not specified	COMPLETED	Exercise Training in Barth Syndrome
NCT01461304	Not specified	NO_LONGER_AVAILABLE	Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
NCT01625663	Not specified	COMPLETED	Heart and Muscle Metabolism in Barth Syndrome
NCT01629459	Not specified	COMPLETED	Resistance Exercise in Barth Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TRIHEPTANOIN	4	1
ELAMIPRETIDE	3	3