DNA Repair Disorders Service

Description

DNA nucleotide excision repair (DNA) disorders include xeroderma pigmentosa (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). Xeroderma Pigmentosa (XP) service was commissioned as a HSS in 2010, the service specification was updated in 2018 to include the CS and TTD. These are rare inherited multi-organ disorders and patients have specific, complex and specialist needs. Although the underlying diseases are not curable, there is potential to significantly improve health and quality of life through a comprehensive, expert patient focused service. Many individuals with CS/TTD require photoprotection, have reduced mobility or are on supplemental feeds. The conditions are complex to diagnose and treat, and require input from: dermatology, dermatological surgery, paediatric neurology, adult neurology, ophthalmology, neuropsychology, clinical genetics, paediatric dentistry, psychology, dietetics, endocrinology, optometry, medical photography, audiology and palliative care. Lot 1: DNA nucleotide excision repair (DNA) disorders include xeroderma pigmentosa (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). Xeroderma Pigmentosa (XP) service was commissioned as a HSS in 2010, the service specification was updated in 2018 to include the CS and TTD. These are rare inherited multi-organ disorders and patients have specific, complex and specialist needs. Although the underlying diseases are not curable, there is potential to significantly improve health and quality of life through a comprehensive, expert patient focused service. Many individuals with CS/TTD require photoprotection, have reduced mobility or are on supplemental feeds. These circumstances can impact their ability to maintain optimal vitamin D levels. Therefore, regular vitamin D monitoring is important. are genetic conditions that are complex to diagnose and treat, and require input from: dermatology, dermatological surgery, paediatric neurology, adult neurology, ophthalmology, neuropsychology, clinical genetics, paediatric dentistry, psychology, dietetics, endocrinology, optometry, medical photography, audiology and palliative care. An award has been made following direct award process A. The service started on 1st April 2024 for a period of 3 years with an option to extend for a further 2 years. The lifetime value of the contract is £7,186,475.00.