At $2M, priciest ever medicine treats fatal genetic disease

U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby’s muscle control and kills nearly all of those with the most common type of the disease within a couple of years.

Posted: May 24, 2019 10:47 PM

U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby’s muscle control and kills nearly all of those with the most common type of the disease within a couple of years.

The treatment is priced at $2.125 million. Out-of-pocket costs for patients will vary based on insurance coverage.

The medicine, sold by the Swiss drugmaker Novartis, is a gene therapy that treats an inherited condition called spinal muscular atrophy. The treatment targets a defective gene that weakens a child’s muscles so dramatically that they become unable to move, and eventually unable to swallow or breathe. It strikes about 400 babies born in the U.S. each year.

The Food and Drug Administration on Friday approved the treatment, called Zolgensma, for all children under age 2 who are confirmed by a genetic test to have any of the three types of the disease. The therapy is a one-time infusion that takes about an hour.

Novartis said it will let insurers make payments over five years, at $425,000 per year, and will give partial rebates if the treatment doesn’t work.

The one other medicine for the disease approved in the U.S. is a drug called Spinraza. Instead of a one-time treatment, it must be given every four months. Biogen, Spinraza’s maker, charges a list price of $750,000 for the first year and then $350,000 per year after that.

The independent nonprofit group Institute for Clinical and Economic Review, which rates the value of expensive new medicines, calculated that the price of the new gene therapy is justifiable at a cost of $1.2 million to $2.1 million because it “dramatically transforms the lives of families affected by this devastating disease.”

ICER’s president, Dr. Steven D. Pearson, called the treatment’s price “a positive outcome for patients and the entire health system.”

The defective gene that causes spinal muscular atrophy prevents the body from making enough of a protein that allows nerves that control movement to work normally. The nerves die off without the protein.

In the most common type, which is also the most severe, at least 90% of patients die by age 2, and any still alive need a ventilator to breathe. Children with less-severe types become disabled more slowly and can live for up to a couple decades.

Zolgensma works by supplying a healthy copy of the faulty gene, which allows nerve cells to then start producing the needed protein. That halts deterioration of the nerve cells and allows the baby to develop more normally.

In patient testing, babies with the most severe form of the disease who got Zolgensma within 6 months of birth had limited muscle problems. Those who got the treatment earliest did best.

Babies given Zolgensma after six months stopped losing muscle control, but the medicine can’t reverse damage already done.

Evelyn Villarreal was one of the first children treated, at eight weeks. Her family, from Centreville, Virginia, had lost their first child to spinal muscular atrophy at 15 months. Two years later when Evelyn was born a test showed she also had the disease, so the family enrolled her in the gene therapy study at Nationwide Children’s Hospital in Columbus, Ohio.

Evelyn is now 4½ years old and showing no muscle problems other than minor trouble standing up, said her mother, Elena Villarreal. She has been feeding herself for a long time, she draws and speaks well, and will be starting kindergarten in the fall.

“She’s very active and goes to the playground a lot,” said Elena Villarreal. “She’s walking and even jumping.”

It is too early to know how long the benefit of the treatment lasts, but doctors’ hopes are rising that they could last a lifetime, according to Dr. Jerry Mendell, a neurologist at Nationwide Children’s. Mendell led one of the early patient studies and is Evelyn’s doctor.

“It’s beginning to look that way,” he said, because a few children treated who are now 4 or 5 still have no symptoms.

Early diagnosis is crucial, so Novartis has been working with states to get genetic testing for newborns required at birth. It expects most states will have that requirement by next year.

The FDA said side effects included vomiting and potential liver damage, so patients must be monitored for the first few months after treatment.

___

Follow Linda A. Johnson at https://twitter.com/LindaJ_onPharma .

___

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Department of Science Education. The AP is solely responsible for all content.

Terre Haute
Clear
84° wxIcon
Hi: 84° Lo: 68°
Feels Like: 89°
Robinson
Scattered Clouds
82° wxIcon
Hi: 84° Lo: 67°
Feels Like: 88°
Indianapolis
Broken Clouds
87° wxIcon
Hi: 85° Lo: 68°
Feels Like: 90°
Rockville
Clear
77° wxIcon
Hi: 83° Lo: 66°
Feels Like: 79°
Casey
Few Clouds
84° wxIcon
Hi: 84° Lo: 67°
Feels Like: 88°
Brazil
Clear
84° wxIcon
Hi: 83° Lo: 68°
Feels Like: 89°
Marshall
Clear
84° wxIcon
Hi: 84° Lo: 67°
Feels Like: 89°
Partly cloudy with AM patchy fog.
WTHI Planner
WTHI Temps
WTHI Radar

Latest Video

Image

Thursday Afternoon Weather

Image

Police surround N 5th St Home

Image

Teachers are gearing up for a socially distanced classroom

Image

Thursday: Mix of clouds and sunshine. Average temperatures. High: 86

Image

Tia Tolbert

Image

Sullivan football

Image

New restaurant set to open in southern Vigo County

Image

Oblong pays off late water bills with COVID-19 relief funding

Image

Southwest Sullivan Parent

Image

Local artist creates a piece for the Indianapolis Motor Speedway

WTHI Events

 

Illinois Coronavirus Cases

(Widget updates once daily at 7 p.m. CT)

Confirmed Cases: 199893

Reported Deaths: 7881
CountyConfirmedDeaths
Cook1130444934
Lake12939449
DuPage12511522
Kane9948305
Will9486346
St. Clair4155162
Winnebago3806131
McHenry3279114
Madison277778
Kankakee180769
Rock Island178438
Peoria171736
Champaign170919
Kendall141223
Unassigned1395209
Sangamon132333
DeKalb95631
LaSalle82525
Boone77023
Jackson74020
McLean68615
Macon67823
Tazewell5818
Adams5806
Coles52021
Randolph4867
Williamson4547
Ogle4205
Clinton41917
Whiteside36717
Grundy3435
Stephenson3356
Monroe33213
Union33023
Knox3241
Jefferson30420
Morgan2866
Iroquois26912
Henry2621
Vermilion2492
Bureau2413
Cass23811
Macoupin2003
Franklin1981
Warren1940
Lee1861
Perry1853
Effingham1831
Montgomery1747
Woodford1703
Marion1690
Logan1661
McDonough14715
Christian1444
Saline1342
Jo Daviess1331
Livingston1303
Douglas1293
Jersey1222
Pulaski971
Moultrie930
Shelby901
Clark872
Mercer774
White720
Fayette713
Johnson700
Hancock681
Washington670
Greene660
Wayne662
Bond643
Carroll644
Piatt640
Jasper597
Menard580
Cumberland573
Mason570
Gallatin512
Lawrence510
Ford502
Massac420
Wabash420
Alexander370
Fulton370
De Witt340
Hamilton300
Crawford290
Edgar290
Marshall280
Clay270
Scott270
Pike260
Edwards240
Richland220
Schuyler190
Hardin180
Brown150
Henderson140
Putnam140
Calhoun110
Pope110
Stark70
Out of IL00

Indiana Coronavirus Cases

(Widget updates once daily at 8 p.m. ET)

Confirmed Cases: 76522

Reported Deaths: 3086
CountyConfirmedDeaths
Marion16194731
Lake7742281
Elkhart495586
Allen4040163
St. Joseph361083
Hamilton2887104
Vanderburgh205313
Hendricks1943108
Cass18069
Johnson1794119
Porter136239
Clark130750
Tippecanoe124511
Madison103066
LaPorte93530
Howard92065
Kosciusko87212
Floyd82249
Bartholomew82147
Marshall79423
Monroe76732
Delaware76052
Vigo71411
Dubois71312
Boone69746
Noble69029
Hancock68839
Jackson5975
Warrick58830
Shelby56828
LaGrange56610
Grant53130
Dearborn51628
Morgan48934
Clinton4504
Henry41820
Wayne38810
White37711
Montgomery36021
Lawrence35727
Harrison35224
Decatur34232
Putnam3218
Daviess27920
Miami2772
Scott27310
Jasper2572
Greene25434
Franklin24715
DeKalb2384
Gibson2334
Jennings22812
Steuben2153
Ripley2138
Carroll2003
Fayette1957
Perry18713
Posey1800
Starke1807
Orange17824
Wells1782
Fulton1732
Wabash1715
Jefferson1662
Knox1640
Whitley1566
Tipton14912
Washington1441
Sullivan1411
Spencer1393
Clay1315
Huntington1273
Randolph1274
Newton12110
Adams1172
Owen1051
Jay920
Rush894
Pulaski821
Fountain762
Brown752
Blackford662
Ohio656
Benton640
Pike620
Vermillion590
Parke551
Switzerland530
Martin500
Crawford450
Union410
Warren241
Unassigned0208