Table 1 Outcomes of 54 reimbursement reviews and price negotiations for rare disorder drugs, 2014–2021

Riociguat (Adempas)

Pulmonary thromboembolic hypertension

7/2014

LwC

Substantial reduction

LOI

Stiripentol (Diacomit)

Dravet syndrome^a

10/2014

LwC

Reduction

LOI

Icatibant (Firazyr)

Hereditary angioedema^a

12/2014

LwC

Reduction

LOI

Ivacaftor (Kalydeco)

Cystic fibrosis gating mutations^a

12/2014

LwC

Substantial reduction

Closed, no LOI

Macitentan (Opsumit)

Pulmonary arterial hypertension

1/2015

LwC

Reduction

LOI^c

Pasireotide (Signifor)

Cushing's disease

2/2015

DNR

Lack of C-E evidence

No negotiation

Elosulfase alfa (Vimizim)

Mucopolysaccharidosis IVA^a

3/2015

DNR

Not C-E

No negotiation

Pirfenidone (Esbriet)

Idiopathic pulmonary fibrosis

4/2015^b

LwC

Substantial reduction

LOI

Lomitapide (Juxtapid)

Homozygous familial hypercholesterolemia^a

4/2015

DNR

Not C-E

No negotiation

Nintedanib (Ofev)

Idiopathic pulmonary fibrosis

10/2015

LwC

Substantial reduction

LOI

Taliglucerase alfa (Elelyso)

Gaucher disease^a

10/2015

DNR

C-E not assessable

LOI

Ivacaftor (Kalydeco)

Cystic fibrosis R117H gating mutation^a

11/2015

LwC

Substantial reduction

LOI

Riociguat (Adempas)

Pulmonary arterial hypertension

12/2015

LwC

Substantial reduction

Closed, no LOI

Galsulfase (Naglazyme)

Mucopolysaccharidosis VI^a

2/2016

LwC

Substantial reduction

No negotiation

Asfotase alfa (Strensiq)

Hypophosphatasia^a

3/2016

LwC

Substantial reduction

LOI^d

Sodium phenylbutyrate (Pheburane)

Urea cycle disorders^a

4/2016

LwC

Lack of C-E evidence

LOI

Elosulfase alfa (Vimizim)

Mucopolysaccharidosis IVA^a

5/2016^b

LwC

Substantial reduction

LOI

Teduglutide (Revestive)

Short bowel syndrome, adult

7/2016

LwC

 > 80% for $50,000/QALY

LOI

Sapropterin (Kuvan)

Phenylketonuria^a

10/2016^b

LwC

 > 90% for $50,000/QALY

LOI

Lumacaftor/ivacaftor (Orkambi)

Cystic fibrosis, F508del mutation^a

10/2016

DNR

98% for $50,000/QALY

No negotiation

Selexipag (Uptravi)

Pulmonary arterial hypertension

10/2016

LwC

 > 42% for $50,000/QALY

LOI

Glycerol phenylbutyrate (Ravicti)

Urea cycle disorders^a

3/2017

LwC

Not C-E at $50,000/QALY

LOI

Obeticholic acid (Ocaliva)

Primary biliary cholangitis

7/2017

LwC

 > 60% for $50,000/QALY

LOI

Eliglustat (Cerdelga)

Gaucher disease^a

7/2017

LwC

Not to exceed similar drugs

Closed, no LOI

Nusinersen (Spinraza)

Spinal muscular atrophy^a

12/2017^b

LwC

95% for > $400,000/QALY

LOI

Migalastat (Galafold)

Fabry disease^a

1/2018

LwC

Lower than similar drugs

LOI

Cysteamine (Procysbi)

Nephropathic cystinosis^a

1/2018

LwC

 > 95% for $100,000/QALY

LOI

Nitisinone (Orfadin)

Tyrosinemia type 1^a

2/2018

LwC

 > 87% for $50,000/QALY

LOI

Tocilizumab (Actemra)

Giant cell arteritis

3/2018

LwC

68% for $50,000/QALY

LOI

Nitisinone (MDK-Nitisinone)

Tyrosinemia type 1^a

4/2018

LwC

 > 87% for $50,000/QALY

LOI

Nitisinone (Nitisinone)

Tyrosinemia type 1^a

8/2018

LwC

 > 87% for $50,000/QALY

LOI

Lumacaftor/ivacaftor (Orkambi)

Cystic fibrosis, F508del mutation^a

9/2018^b

DNR

97% for $100,000/QALY

LOI^d

Sebelipase alfa (Kanuma)

Lysosomal acid lipase deficiency^a

9/2018

LwC

 > 97% for $50,000/QALY

LOI

Nusinersen (Spinraza)

Spinal muscular atrophy^a

2/2019

LwC

Not C-E at $300,000/QALY

LOI

Edaravone (Radicava)

Amyotrophic lateral sclerosis

3/2019

LwC

 > 95% for $200,000/QALY

LOI

Cerliponase alfa (Brineura)

Neuronal ceroid lipofuscinosis type 2^a

5/2019

LwC

 > 99% for $50,000/QALY

LOI

Mercaptamine (Cystadrops)

Cystinosis^a

6/2019

LwC

 > 97% for $50,000/QALY

LOI

Patisiran (Onpattro)

Transthyretin amyloidosis^a

7/2019

LwC

98% for $50,000/QALY

LOI

Lanadelumab (Takhzyro)

Hereditary angioedema^a

11/2019

LwC

 > 58% for $50,000/QALY

LOI

Teduglutide (Revestive)

Short bowel syndrome, pediatric

11/2019

LwC

 > 80% for $50,000/QALY

LOI

Inotersen (Tegsedi)

Transthyretin amyloidosis^a

12/2019

LwC

 > 88% for $50,000/QALY

LOI

Tafamidis (Vyndaqel)

Transthyretin amyloidosis^a

2/2020

LwC

 > 92% for $50,000/QALY

LOI

Burosumab (Crysvita)

Hypophosphatemia (X-linked)^a

5/2020

LwC

94% for $50,000/QALY

LOI

Eculizumab (Soliris)

Neuromyelitis optica spectrum disorder^a

8/2020

LwC

96% for $50,000/QALY

Active

Caplacizumab (Cablivi)

Thrombotic thrombocytopenic purpura^a

8/2020

DNR

75% for $50,000/QALY

No negotiation

Voretigene neparvovec (Luxturna)

Leber’s congenital amaurosis^a

11/2020

LwC

 > 74% for $50,000/QALY

Active

Onasemnogene abeparvovec (Zolgensma)

Spinal muscular atrophy^a

3/2021

LwC

 > 90% for $50,000/QALY

LOI

Amifampridine (Ruzurgi)

Lambert-Eaton myasthenic syndrome^a

4/2021

LwC

Not C-E at $50,000/QALY

Active

Satralizumab (Enspryng)

Neuromyelitis optica spectrum disorder^a

4/2021

LwC

 > 89% for $50,000/QALY

Active

Luspatercept (Reblozyl)

Beta-thalassemia associated anemia^a

6/2021

LwC

 > 85% for $50,000/QALY

Under consideration

Risdiplam (Evrysdi)

Spinal muscular atrophy^a

8/2021

LwC

99% for > $50,000/QALY

Active

Elexacaftor/tezacaftor/ivacaftor (Trikafta)

Cystic fibrosis, F508del mutation^a

9/2021

LwC

 > 90% for $50,000/QALY

LOI

Givosiran (Givlaari)

Acute hepatic porphyria^a

9/2021

LwC

 > 57% for $50,000/QALY

Under consideration

Trientine (MAR-Trientine)

Wilson’s disease^a

11/2021

LwC

27% for $50,000/QALY

Active