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Next-generation models and genetic therapies for rare neuromuscular diseases

Project description

Muscle-on-a-chip to develop gene therapies for neuromuscular disease

Muscular dystrophies, such as Duchenne muscular dystrophy, are severe genetic disorders causing muscle wasting, immobility, and early death. Despite the promise of gene therapies and genome editing, only one product has recently been approved for one form of muscular dystrophy, mainly due to lack of reliable disease models. The EU-funded MAGIC project aims to overcome this limitation by creating advanced human muscle models using microfabrication and stem cells. These muscle-on-a-chip devices will test new viral vectors and gene editing tools for safe and effective therapeutic strategies. Researchers aim to develop refined vectors that offer precise gene expression and limited immune responses, which can be further validated in large animal models before clinical testing.

Objective

Muscular dystrophies are severe genetic disorders characterised by muscle wasting, impaired mobility and premature death, which to date remain incurable. Although preclinical and clinical evidence position genetic therapies amongst the key emerging treatments for several genetic conditions, no gene therapy or genome editing strategy has been approved for any muscular dystrophies yet. The lack of robust, human(ised) models enabling precise development of such advanced therapies is a major barrier towards their clinical translation for muscle diseases. To overcome this limitation, we have assembled the multidisciplinary MAGIC consortium to build novel, high-fidelity, models of human skeletal muscle pathophysiology which will be used to develop new vectors for safe and efficacious neuromuscular gene therapy and genome editing. Specific rare (paediatric) diseases targeted by our consortium are Duchenne muscular dystrophy (DMD), X-linked (XLCNM), autosomal dominant (ADCNM) and autosomal recessive (ARCNM) centronuclear myopathies (CNMs), LMNA- and COL6-related congenital muscular dystrophies (CMDs). Microfabrication, microfluidics and human stem cell differentiation technologies will be used to generate disease-specific human myofiber- and muscle-on-chip devices qualified for commercialisation, capable of screening toxicity and cell-specificity of new adeno-associated viral vector (AAV) capsid variants, and unique muscle-specific lentiviruses. Selected vectors will be equipped with novel lineage-specific regulatory elements to further restrict transgene expression to myofibres, muscle stem cells or interstitial fibroblasts, reducing also potential immunogenicity. The same vectors will be loaded with therapeutic genes or with new mutation-independent (for DMD and XLCNM) or mutation-specific (for LMNA- and COL6-CMD) gene editing tools, which will then be validated in dystrophic rodents. Finally, GMP-compatible batches of the top performing vectors will undergo advanced preclinical testing in large animals, preparing them for future clinical translation.

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Topic(s)

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HORIZON-RIA - HORIZON Research and Innovation Actions

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Call for proposal

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(opens in new window) HORIZON-HLTH-2022-DISEASE-06-two-stage

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Coordinator

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
Net EU contribution

Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.

€ 1 596 997,00
Total cost

The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.

€ 1 596 997,00

Participants (10)

Partners (5)

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