Journal of Developmental Biology

The 2026 Barth Syndrome International Scientific, Medical & Family Conference was held at the Hyatt Regency Coconut Point, Bonita Springs, Florida, USA, from 19th to 25th July 2026 with scientific programming beginning 22nd July. This biennial event assembled researchers, clinicians, and affected community members for its first gathering since the U.S. FDA granted accelerated approval to elamipretide (Forzinity™; Mighty Therapeutics), the first therapy for Barth syndrome and first ever mitochondrially targeted therapy, in September 2025. Scientific sessions addressed: (1) emerging cardiolipin biology; (2) convergent identification of ABHD18 as a therapeutic target for correction of the cardiolipin phenotype; (3) advancing therapeutic strategies including AAV gene therapy, enzyme replacement therapy, and ABHD18 inhibition; (4) the elamipretide post-approval program, including the SPIBA-401 confirmatory trial; (5) natural history characterization covering infant outcomes, extra-cardiac manifestations, diaphragm weakness, neutropenia, and amino acid metabolism; (6) regulatory and drug development strategies in ultra-rare indications; and (7) international Centers of Expertise models and the launch of the BarthINSIGHTS registry. This report summarizes the key scientific advances, discussions, and future priorities as they relate to Barth syndrome biology, therapeutic development, and clinical care.

It has been hypothesized that a lack of dioxygen could be the trigger of hatching. Here we address the question of whether developmental heterochronies could be an indirect way to study adaptation to lack of dioxygen. To answer this question, we aim to explore the potential of an original method which compares the relative rate of anatomical development across an extended set of 19 species using a hierarchical analysis of ontogenetic time. Then we compare heterochronic rates with the relative time at hatching and information about dioxygen availability. Pairwise independence between dioxygen richness, rate of development and relative time at hatching are all rejected at the 5% threshold. This suggests a link between these three variables, and provides consilient evidence for the hypothesis that lack of dioxygen is a trigger of hatching. A possible scenario is the following: hatching early relatively to developmental time (because of a lack of dioxygen) exposes larvae to predation, and concomitant accelerated early anatomical development could be the result of a selective constraint which consists of being able to escape predators. We conjecture that accelerated embryonic development might be linked to adaptation against predation in dioxygen-poor waters.

Embryonic kidney morphogenesis depends on the coordinated communication among ureteric epithelium, nephron progenitors, stroma, endothelium and differentiating nephrons. Classical studies established central roles for glial cell line-derived neurotrophic factor (GDNF) signaling through the RET proto-oncogene receptor tyrosine kinase (RET), WNT-family signaling, fibroblast growth factor (FGF), bone morphogenetic protein (BMP), Notch, Hedgehog, vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) pathways, but pathway-centered models do not fully explain why similar signals produce different outcomes across cell states, anatomical locations and developmental stages. Single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics have refined these models by resolving heterogeneous progenitor, stromal and vascular states, reassigning several signal sources and constraining predicted interactions to defined tissue relationships. Here, we examine how these findings change the interpretation of ureteric bud (UB) branching, nephron progenitor transitions, stromal patterning and vascular integration. We use the dynamic developmental niche as an evidence-organizing framework, rather than as a new biological entity, to distinguish established mechanisms from relationships supported mainly by transcriptomic, spatial or computational evidence. Vascular, immune and mechanical interactions are evaluated according to their model-specific support, and we outline experiments required to connect predicted communication with morphogenetic outcomes and congenital anomalies of the kidney and urinary tract (CAKUT).