Profound Surfactant Protein Deficiency incidence in the UK
Research type
Research Study
Full title
Incidence and natural history of early-onset Surfactant Protein Deficiency in the UK
IRAS ID
342928
Contact name
Deborah Gill
Contact email
Sponsor organisation
University of Oxford
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
Children born with certain types of protein deficiency (SP-B and ABCA3) fail to produce sufficient amounts of a substance called pulmonary surfactant. This means they cannot inflate their lungs at birth. They experience respiratory distress requiring mechanical ventilation to support life. Treatment is purely supportive. No treatments that prolong life are available for these babies. Once a diagnosis is confirmed from a biopsy or genetic tests, palliative care is instituted and ventilation is typically withdrawn. Life expectancy is limited to only a few hours after mechanical ventilation stops. One solution may be to deliver the gene for SP-B or ABCA3 (as appropriate) to the lung using our viral vector technology, to restore normal pulmonary surfactant. In order to help plan this gene therapy study, we need to understand how many newborns are diagnosed with ABCA3 / SP-B deficiency every year, in the UK. We will use population-level data available in the National Neonatal Research Database (NNRD), of babies who were admitted to neonatal intensive care units in England, Wales and Scotland for ventilator support. We will consider data from all babies born at or after 37 weeks of pregnancy (i.e. full term), to identify those that have a clinical picture that suggests Surfactant Protein Deficiency (SPD). We will then ask their main neonatal unit to confirm whether they were diagnosed with a severe form of SPD, a mild form of SPD or some other outcome (other diagnosis or discharged home without the need for further mechanical ventilation). We will compare the features that may differentiate these three groups of full-term babies as well as count the number of SPD cases per year. Analysis of incidence as well as natural history of this profound form of the disease will help define a future clinical trial protocol, including obtaining funding.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
24/NE/0153
Date of REC Opinion
27 Aug 2024
REC opinion
Favourable Opinion