HST appraisals published to date
| Reference | Technology (brand)/indication | Prognosis without treatment | Patient population size (England) | QALY gain | ICER* (£/QALY) | Recommendation†‡ |
| HST 145–47 | Eculizumab (Soliris)/atypical haemolytic uraemic syndrome | Acute mortality ranges from 10% to 15%; up to 70% of patients progress to end–stage renal failure and need dialysis or die within the first year of disease. | Estimated 170 eligible patients at the time of appraisal; 20 patients per year thereafter. | 10–25 | Not applicable (n/a) | Unable to prepare a recommendation; recommended; recommended |
| HST 248–50 | Elosulfase alfa (Vimizim)/mucopolysaccharidosis type IVa | Variable. Severe disease is early onset (<3 years), with high morbidity and rapid progression. The condition leads to reduced life expectancy, primarily through respiratory failure and heart problems. | Estimated 74–77 eligible patients at the time of appraisal; three patients per year thereafter. | 5–20 | n/a | Minded not to recommend; recommended; recommended (MAS) |
| HST 351 52 | Ataluren (Translarna)/Duchenne muscular dystrophy (DMD) with a non-sense mutation in the dystrophin gene | People with DMD have a gradual decline in physical functioning, with subsequent respiratory and cardiac failure that leads to death, usually before age 30 years. | Estimated 80 eligible patients at the time of appraisal. | 2.9–8.6 | n/a | Minded not to recommend; recommended (MAS, PAS) |
| HST 453 54 | Migalastat (Galafold)/Fabry disease | Variable. The disease leads to irreversible organ damage, resulting in progressive kidney and heart disease and increased risk of stroke at a relatively young age. Fabry disease is associated with both reduced quality of life and reduced life expectancy. | Estimated 142 eligible patients at the time of appraisal. | 0.3–1.0 | n/a | Recommended; recommended (PAS) |
| HST 555 56 | Eliglustat (Cerdelga)/type 1 Gaucher disease | Variable. Gaucher disease causes symptoms such as fatigue, bone pain and reduced mobility. People who present early have a particularly poor prognosis and usually develop bone disease and immobility in the third or fourth decade of life, with a high early mortality. | Approximately 50–100 eligible patients at the time of appraisal. | 1.0–1.1 | n/a | Not recommended; recommended (PAS) |
| HST 657–59 | Asfotase alfa (Strensiq)/paediatric-onset hypophosphatasia | Symptoms are variable but include chronic debilitating pain, rickets, softening and weakening of the bones, bone deformity and a greater incidence of fractures. The most severe forms tend to occur before birth and in early infancy. About 50%–100% of babies presenting with the condition die within the first year of life. | Between 1 and 7 eligible patients per year. | 14–25 | n/a | Not recommended; recommended (perinatal-onset and infantile-onset only); recommended (all paediatric onset, PAS, MAS) |
| HST 760 61 | Strimvelis/adenosine deaminase deficiency–severe combined immunodeficiency | The main feature of ADA–SCID is a severely compromised immune system, which, if untreated, requires the patient to be isolated, severely impacting quality of life. Untreated infants typically die before school age. | The company estimated that three people a year are diagnosed with ADA–SCID and that one person a year would have Strimvelis treatment. | 14.0–19.6 | <1 20 506 | Recommended; recommended |
| HST 862 63 | Burosumab (Crysvita)/X-linked hypophosphataemia in children and young people | Early signs include skeletal abnormalities such as bowed or bent legs, below average height and irregular growth of the skull. Bone defects are common in children and can cause pain and subsequently limit physical functioning. When bone growth stops, bone deformities become irreversible and can be the source of continuing pain. | Up to 250 eligible UK patients at the time of appraisal. | 5.5–16.0 | 1 13 000–1 50 000 | Not recommended; recommended (PAS) |
| HST 964 65 | Inotersen (Tegsedi)/hereditary transthyretin amyloidosis (hATTR) | People may have a range of symptoms affecting one or more body systems. These can include the autonomic nervous system, peripheral nerves, heart, gastrointestinal system, eyes and central nervous system. The effects and complications of the condition can lead to death within 3–15 years of symptoms developing. | Approximately 150 eligible UK patients at the time of appraisal. | <10 | 96 697 | Not recommended; recommended (PAS) |
| HST 1066 67 | Patisiran (Onpattro)/hATTR | As above. | As above. | 9.2–12.2 | 80 730–1 25 256 | Not recommended; recommended (PAS) |
| HST 1168 | Voretigene neparvovec (Luxturna)/inherited retinal dystrophies caused by RPE65 gene mutations | People with the condition have progressive vision loss, beginning as early as the first few months of life, or during childhood, or adolescence. Ultimately, the deterioration leads to near-total blindness. | Approximately 86 eligible patients at the time of appraisal. | 12.1–17.7 | 1 14 956–1 55 750 (pre discount)§ | Recommended (PAS) |
| HST 1269–71 | Cerliponase alfa (Brineura)/neuronal ceroid lipofuscinosis type 2 | Symptoms include a decline in mental and other capacities, epilepsy and sight loss in late infancy, leading to death by early adolescence. Symptoms appear in the second year of life and can then progress rapidly. Ultimately, the child will become totally dependent on family and carers for all their needs. | Approximately 30–50 eligible UK patients at the time of appraisal; 3–6 patients per year thereafter. | >30 | >3 00 000 (pre discount)§ | Not recommended; not recommended; recommended (MAS) |
| HST 1372 73 | Volanesorsen (Waylivra)/familial chylomicronaemia syndrome | Symptoms include repeated episodes of severe abdominal pain, recurrent episodes of acute pancreatitis, liver and spleen enlargement, and fatigue. Acute pancreatitis is a life-threatening condition for which intensive care may be needed. | Approximately 80–100 eligible UK patients at the time of appraisal. | <10 | 98 103 | Not recommended; recommended (PAS) |
*Calculation of a technology’s incremental cost-effectiveness ratio (ICER) did not form part of the formal methods of the HST process at the time that HTS1–HST6 took place.
†Provisional decisions in normal type, final decisions indicated by bold type.
‡A PAS is the standard way for pharmaceutical companies to make high-cost drugs affordable for the NHS when they are routinely commissioned. Each scheme is approved by the Department of Health. They can be a simple discount or more complex (eg, price cap). A managed access scheme consists of two components: (1) a data collection arrangement, which sets out data that will be collected to resolve clinical uncertainty during the 'managed access' period, and (2) a commercial agreement that determines how much the NHS will pay for the treatment during the managed access period. This could be a PAS.
§ICERs for these appraisals are commercial in confidence and the figures quoted do not reflect the price paid by the NHS after the agreed discount has been applied.
ADA–SCID, adenosine deaminase deficiency–severe combined immunodeficiency; HST, highly specialised technology; MAS, managed access scheme; NHS, National Health Service; PAS, patient access scheme; QALY, quality-adjusted life-year.