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Congenital muscle diseases are rare, lifelong conditions that affect children from birth, and finding effective treatments is a significant challenge. One major obstacle is the lack of reliable biomarkers to assess disease progression and treatment response. Currently, the evaluation of potential therapies in clinical trials often relies on invasive muscle biopsies, which pose risks, especially for young children with these conditions.

A team of researchers at the National Institutes of Health (NIH) is taking crucial steps to address this challenge. They’ve collected blood and urine samples from children with congenital muscle diseases, including 85 children with COL6-related dystrophy or LAMA2-related congenital muscular dystrophy. These samples are vital resources for exploratory biomarker research.

To strengthen their efforts, the NIH team is seeking collaboration with experts at the Irish Centre for Maternal and Child Health Research (INFANT) at the University College Cork (UCC). INFANT has a strong track record in biomarker research, particularly in infants and young children.

One of INFANT’s areas of expertise is the study of microRNA (miRNA) expression in neonatal diseases. Led by Professor Deirdre Murray, INFANT’s studies have identified specific miRNAs in affected infants, offering insights into disease mechanisms and potential treatments.

INFANT also excels in proteomics research, led by Dr. Jane English. They study proteins in various groups of children, using advanced techniques like mass spectrometry to analyze blood samples. Their extensive collection of “control” biomarker samples from healthy children, gathered from birth to age 5, provides a unique resource for comparison.

The researchers plan to analyze miRNA in blood samples from children with muscle diseases and compare them to healthy controls. This will help identify specific miRNAs that differ significantly between the two groups. The most promising miRNAs will undergo further validation using reverse transcription quantitative real-time PCR (RT qPCR). Researchers will also assess the biological relevance of these miRNAs by comparing them to gene expression profiles from prior studies.

In parallel, the team will study proteins in blood samples using mass spectrometry. High-performance liquid chromatography (HPLC) will be used to prepare samples by removing abundant proteins. This will enable the identification of proteins that are consistently altered in patients with muscle diseases.

Additionally, the researchers will correlate miRNA and proteomics data with clinical disease severity, including neuromuscular motor scale scores.

The collaboration between NIH and INFANT is essential because the discovery of disease-specific biomarkers could revolutionize the treatment of congenital muscle diseases. Currently, clinical trials rely on invasive muscle biopsies, which are not ideal for assessing treatment effectiveness. Biomarkers offer a less invasive and more quantitative approach to monitoring therapeutic effects.

This is particularly important for conditions like COL6-related dystrophy and LAMA2-related dystrophy, where promising therapies are under development. The ability to accurately measure treatment efficacy is critical for translating preclinical research into successful clinical trials, especially in children.

In summary, the collaboration between NIH and INFANT represents a significant step toward finding biomarkers that can improve the lives of children with congenital muscle diseases. By leveraging their expertise in biomarker research, these teams aim to pave the way for more effective treatments and a brighter future for these young patients.

Duration of the project: 1 year, with the possibility of extension

Place of development: collaborative project between NIH and INFANT (Irish Research Centre for Maternal and Child Health, University of Cork (UCC).

Investigators Involved:

  • Dr Reghan Foley ( NIH, USA).
  • Dr. Jane English ( INFANT, Ireland)

Total amount of the project: 43.961’76$.

Co-financed between entities Colageno6 and Lama2:

  • Cure CMD (USA)
  • CMDTR (Turkey)
  • Fundación Noelia (Spain)
  • Col6 Fund (USA)
  • The Lama2 Europe

Pending contribution from Fundación Noelia:

January 2024: $5,000 (Proof of payment)

Collaboration Agreement

Acceptance Letter

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