Transformative treatments for children with fatal genetic lung diseases
Inherited SP-B deficiency is a genetic disorder affecting approximately 1 in 1 million newborns in the US and Europe. It results from mutations in the SP-B gene, which is essential for lung function and survival.
Current interventions only provide temporary relief, and once genetic diagnosis of SP-B deficiency is confirmed, treatment is usually withdrawn and patients die. The only definitive treatment, lung transplantation, is often not accessible owing to the scarcity of donor organs for newborns and the risks involved. This leaves few if any viable options for long-term survival.
Professor Deborah Gill says: 'It must be devastating to be told that your newborn baby has a fatal disease for which there is no treatment. Surfactant protein B (SPB) deficiency is a rare disease where a baby is born with severe breathing difficulties. The babies cannot keep their lungs inflated and need mechanical ventilation to help keep them alive. Currently, there is no cure or treatment for this disease, but we think gene therapy could help. We aim to deliver a functional copy of the gene responsible for SPB deficiency deep into the babies' lungs to help them make normal lung surfactant so they can breathe independently.'
AlveoGene, co-founded in 2023 by Professor Deborah Gill and Professor Steve Hyde, is developing a gene therapy known as AVG-002 using its InGenuiTy® platform. This uses a unique lentiviral vector to deliver a functional SP-B gene directly to the neonatal deep lung alveolar region with high efficiency and efficacy via respiratory instillation.
AlveoGene has now been awarded a Rare Pediatric Disease Designation (RPDD) by the US Food & Drug Administration (FDA) for AVG-002. This means that it will receive a rare paediatric disease Priority Review Voucher (PRV) when the designated drug is approved for the associated indication in the paediatric population.
The voucher will reduce the product's review time and accelerate any granted approval and subsequent market entry by at least four months. The PRV may be used by the original recipient, or it can be sold to another company for the purchaser's use, with PRVs recently achieving sales prices of $100-$150 million.
Preclinical data in SP-B gene knock-out mouse models demonstrate that a single dose of AVG-002 extends survival substantially longer when compared with reported data of other SP-B deficiency candidates in development. This offers the possibility of a lifelong treatment from a single administration.
These data are further reinforced by findings that confirm the restoration of normal lung histology and function following AVG-002 treatment in disease-induced lung tissues. AlveoGene is therefore advancing its preparations for the clinical development of AVG-002 in lethal neonatal SP-B deficiency with the possibility of filing for marketing authorisation by 2028.
genetic lung diseases, hereditary pulmonary disorders, cystic fibrosis, alpha-1 antitrypsin deficiency, primary ciliary dyskinesia, idiopathic pulmonary fibrosis, pulmonary surfactant metabolism dysfunction, hereditary hemorrhagic telangiectasia, lung cancer genetics, rare lung diseases, congenital lung malformations, pulmonary hypertension genetics, bronchiectasis genetics, connective tissue disease-related ILD, familial pulmonary fibrosis, interstitial lung disease, lung developmental disorders, genetic testing for lung disease, monogenic lung diseases, genomic medicine in pulmonology,
#GeneticLungDiseases, #PulmonaryGenetics, #CysticFibrosis, #Alpha1AntitrypsinDeficiency, #PrimaryCiliaryDyskinesia, #IdiopathicPulmonaryFibrosis, #SurfactantMetabolism, #HereditaryHemorrhagicTelangiectasia, #LungCancerGenetics, #RareLungDiseases, #CongenitalLungMalformations, #PulmonaryHypertension, #BronchiectasisGenetics, #ILD, #FamilialPulmonaryFibrosis, #InterstitialLungDisease, #LungGenetics, #GeneticTesting, #MonogenicLungDiseases, #GenomicMedicine.
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