BAG3 encodes BAG cochaperone 3 (575 aa). Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. Highest expression in Muscle Skeletal (370.4 TPM) and Artery Aorta (139.2 TPM).

Myofibrillar myopathy 6 is associated with mutations in the BAG3 gene on chromosome 10.

The BAG3 protein participates in CREB3L4 translocates from the cytosol to the nucleus pathway.

BAG3 is classified as a druggable target with score 0.0.

Genetic testing for BAG3 is available. Testing is considered confirmatory for diagnosis.

No approved treatments are currently available for myofibrillar myopathy 6. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for myofibrillar myopathy 6, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for myofibrillar myopathy 6. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for myofibrillar myopathy 6 have been reported in the published literature.

Phenotype severity distribution: 3 always present features, 20 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for myofibrillar myopathy 6.

15 publications have been identified in PubMed for myofibrillar myopathy 6. Research spans Basic Science / Preclinical (47%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (13%).

Recent Publications

• Filippi K (2026). [PMID: 41965903](https://pubmed.ncbi.nlm.nih.gov/41965903/). *Nature communications*. [Basic Science / Preclinical]

• Ozes B (2026). [PMID: 42137292](https://pubmed.ncbi.nlm.nih.gov/42137292/). *Mol Ther Adv*. [Gene Therapy / Novel Therapeutics]

• Zhou W (2026). [PMID: 41951012](https://pubmed.ncbi.nlm.nih.gov/41951012/). *Biochim Biophys Acta Mol Basis Dis*. [Review / Meta-Analysis]

• Daire E (2026). [PMID: 41736716](https://pubmed.ncbi.nlm.nih.gov/41736716/). *Front Genet*. [Other]

• Riße I (2025). [PMID: 39729860](https://pubmed.ncbi.nlm.nih.gov/39729860/). *Stem cell research*. [Gene Therapy / Novel Therapeutics]

• Zrelski MM (2025). [PMID: 40641151](https://pubmed.ncbi.nlm.nih.gov/40641151/). *Journal of cachexia, sarcopenia and muscle*. [Basic Science / Preclinical]

• Filippi K (2025). [PMID: 39662463](https://pubmed.ncbi.nlm.nih.gov/39662463/). *Stem cell research*. [Basic Science / Preclinical]

• Filippi K (2025). [PMID: 40318522](https://pubmed.ncbi.nlm.nih.gov/40318522/). *Stem cell research*. [Basic Science / Preclinical]

• Filippi K (2025). [PMID: 39662461](https://pubmed.ncbi.nlm.nih.gov/39662461/). *Stem cell research*. [Basic Science / Preclinical]

• Batonnet-Pichon S (2025). [PMID: 41165044](https://pubmed.ncbi.nlm.nih.gov/41165044/). *Journal of cachexia, sarcopenia and muscle*. [Basic Science / Preclinical]