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Dr Foley’s new research project to identifiy relevant biomarkers for LAMA2-CMD

Dr Reghan Foley has recently started a new research project in collaboration with the University College Cork / Cork’s University Hospital’s Irish Centre for Maternal and Child Health Research (INFANT). The focus of this project is on identifying and validating disease-relevant biomarkers for LAMA2 and COL6-related congenital muscular dystrophies.

Supported by LAMA2 Europe, this research initiative bridges Dr Foley’s clinical research expertise in LAMA2 and COL6-related dystrophies with the University College Cork INFANT Centre’s expertise in miRNA and proteomic biomarker research within extensive patient cohorts afflicted by congenital diseases. The project will capitalize on the INFANT Centre’s extensive collection of blood samples obtained from infants and children diagnosed with LAMA2- and COL6-CMD.

Biomarkers are measurable biological indicators which can be used to objectively evaluate the level of a disease, or the response to a therapeutic intervention. These markers can include protein levels, miRNA levels, genetic mutations, metabolites, and hormonal or inflammatory signals. Identifying reliable biomarkers is crucial for any clinical trial to be successful as they allow researchers to:

  • Diagnose and categorise patients: For instance, in LAMA2-CMD patients, different LAMA2 mutations and symptom sets may be present, necessitating precise categorization.
  • Evaluate the efficacy of a new treatment: Biomarkers are used to objectively assess the effectiveness of a treatment and whether it is having the desired therapeutic effect.
  • Reducing trial costs and duration: By identifying patients more likely to respond to a treatment, biomarkers reduce the need for extensive and time-consuming clinical trials, resulting in cost savings and faster approval for new therapies.

Given the promising therapeutic approaches currently under development for LAMA2-CMD, identifying and validating specific LAMA2-CMD biomarkers capable of reflecting potential therapeutic change is essential and would increase the chance of success of upcoming clinical trials.

Dr Reghan Foley, MD, MD(Res) is a Fullbright Scholar and Senior Research Physician in the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, at the National Institutes of Health in Maryland, USA, and has been collaborating closely with LAMA2 Europe since 2019.