Dwarfism treatment triggers mixed emotions

An experimental drug to treat dwarfism by lengthening children’s bones is meeting skepticism from the leading U.S. group that represents little people, which questions giving kids a medication that might make them less little.

Parents like Chelley Martinka, whose daughter has the condition, achondroplasia, say they have no intention of giving their children injections of BioMarin Pharmaceutical’s BMN 111. That won’t change even if the drug lives up to the promise of its early trials, said Martinka, who blogs about her daughter’s condition at “A Is for Adelaide.”

“My daughter is incredibly smart, she’s funny, she is the most loving person I’ve ever met,” said Martinka, who doesn’t have achondroplasia. “I can’t ask for anything else. To do something superficial, to give her a couple of inches, it’s ridiculous.”

BioMarin is betting it can persuade parents to embrace the drug’s potential to add height and avert health issues that come with the genetic disorder. The medicine is a hot topic at the annual meeting of Little People of America, which started Friday in St. Louis.

Leaders in the organization are talking regularly with San Rafael, California-based BioMarin. They worry the drug is being presented as a way to address an “affliction.”

“Just because a person has achondroplasia doesn’t mean they are going to have health issues,” said Gary Arnold, the group’s president, who encourages new parents to get to know others in the community. “This drug might be right for some people, but we also think it’s important to get across the message that it’s not necessary to live a healthy and productive life.”

The average man with achondroplasia grows to a height of 131 centimeters, or 4 feet 4 inches, while the average woman with the condition reaches 4 feet 1 inch. The condition arises from a mutation in the FGFR3 gene, which produces a protein that inhibits the formation of bone from cartilage. The mutation makes the protein overly active, which researchers believe limits bone development.

BMN 111 is a man-made version of a natural peptide that can spur bone growth. BioMarin’s drug, also called vosoritide, boosted the speed of growth by as much as 50 percent in the first study of children with the condition, the company reported last month. That translated to almost an extra inch of height a year.

BioMarin shares jumped 12 percent the following day. The company estimates there are 24,000 children under age 18 in its potential patient population. If the drug is effective for children across that age range, that would create a market of as much as $1.8 billion a year, estimated Robyn Karnauskas, an analyst at Deutsche Bank, in a presentation to clients. Michael Yee, an analyst at RBC Capital Markets, estimates that BioMarin could charge $300,000 for the drug, which would be the company’s biggest product.

The study involved just 26 children with an average age of 7.8 years, with the 10 getting the highest dose seeing the most benefit. There was no placebo comparison, so the trial didn’t examine how they fared compared to children getting no treatment.

There’s no evidence so far that the therapy made the proportions of the children’s bodies more like an average person’s. And there’s no way to know if the accelerated growth would stop, a potential problem since other drugs tested to treat the condition have been difficult to control.

A final study of BMN 111 will probably involve 50 to 100 patients treated for six to 12 months, according to BioMarin. That may not be enough time to show if it helps children avoid serious health complications or if long-term use comes with side effects or potential harm.

Vosoritide may do more than just increase height, said Henry Fuchs, BioMarin’s chief medical officer. Kids who grow more normally could avoid some of the side effects of achondroplasia, such as a curved spine, he said.

The stunted growth can lead to a host of complications, including neurological and breathing problems, when the spinal cord, tonsils and other unaffected tissue grows faster than the surrounding bone, said Melita Irving, the lead investigator of BioMarin’s trial and a consultant in clinical genetics at the Guy’s and St. Thomas’ hospital system in London.

If it works, the drug could replace lengthy, painful and expensive surgeries to break and stretch bones. The process, which takes months, is currently the only option in a quest for longer limbs and better function.

“If it’s proven to be safe, I don’t think any average-height person with a baby is going to say no,” said Kristina Gray, the mother of a 4-year-old boy with achondroplasia in Warwickshire, England. “I see this as giving my son a better quality of life.”

Talk to us

> Give us your news tips.

> Send us a letter to the editor.

> More Herald contact information.

More in Local News

A firefighter stands in silence before a panel bearing the names of L. John Regelbrugge and Kris Regelbrugge during the ten-year remembrance of the Oso landslide on Friday, March 22, 2024, at the Oso Landslide Memorial in Oso, Washington. (Ryan Berry / The Herald)
‘Flood of emotions’ as Oso Landslide Memorial opens on 10th anniversary

Friends, family and first responders held a moment of silence at 10:37 a.m. at the new 2-acre memorial off Highway 530.

Julie Petersen poses for a photo with images of her sister Christina Jefferds and Jefferds’ grand daughter Sanoah Violet Huestis next to a memorial for Sanoah at her home on March 20, 2024 in Arlington, Washington. Peterson wears her sister’s favorite color and one of her bangles. (Annie Barker / The Herald)
‘It just all came down’: An oral history of the Oso mudslide

Ten years later, The Daily Herald spoke with dozens of people — first responders, family, survivors — touched by the deadliest slide in U.S. history.

Victims of the Oso mudslide on March 22, 2014. (Courtesy photos)
Remembering the 43 lives lost in the Oso mudslide

The slide wiped out a neighborhood along Highway 530 in 2014. “Even though you feel like you’re alone in your grief, you’re really not.”

Director Lucia Schmit, right, and Deputy Director Dara Salmon inside the Snohomish County Department of Emergency Management on Friday, March 8, 2024, in Everett, Washington. (Ryan Berry / The Herald)
How Oso slide changed local emergency response ‘on virtually every level’

“In a decade, we have just really, really advanced,” through hard-earned lessons applied to the pandemic, floods and opioids.

Ron and Gail Thompson at their home on Monday, March 4, 2024 in Oso, Washington. (Olivia Vanni / The Herald)
In shadow of scarred Oso hillside, mudslide’s wounds still feel fresh

Locals reflected on living with grief and finding meaning in the wake of a catastrophe “nothing like you can ever imagine” in 2014.

Rep. Suzan DelBene, left, introduces Xichitl Torres Small, center, Undersecretary for Rural Development with the U.S. Department of Agriculture during a talk at Thomas Family Farms on Monday, April 3, 2023, in Snohomish, Washington. (Olivia Vanni / The Herald)
Under new federal program, Washingtonians can file taxes for free

At a press conference Wednesday, U.S. Rep. Suzan DelBene called the Direct File program safe, easy and secure.

Former Snohomish County sheriff’s deputy Jeremie Zeller appears in court for sentencing on multiple counts of misdemeanor theft Wednesday, March 27, 2024, at Snohomish County Superior Court in Everett, Washington. (Ryan Berry / The Herald)
Ex-sheriff’s deputy sentenced to 1 week of jail time for hardware theft

Jeremie Zeller, 47, stole merchandise from Home Depot in south Everett, where he worked overtime as a security guard.

Everett
11 months later, Lake Stevens man charged in fatal Casino Road shooting

Malik Fulson is accused of shooting Joseph Haderlie to death in the parking lot at the Crystal Springs Apartments last April.

T.J. Peters testifies during the murder trial of Alan Dean at the Snohomish County Courthouse on Tuesday, March 26, 2024 in Everett, Washington. (Olivia Vanni / The Herald)
Bothell cold case trial now in jury’s hands

In court this week, the ex-boyfriend of Melissa Lee denied any role in her death. The defendant, Alan Dean, didn’t testify.

A speed camera facing west along 220th Street Southwest on Tuesday, Nov. 21, 2023 in Edmonds, Washington. (Olivia Vanni / The Herald)
New Washington law will allow traffic cams on more city, county roads

The move, led by a Snohomish County Democrat, comes as roadway deaths in the state have hit historic highs.

Mrs. Hildenbrand runs through a spelling exercise with her first grade class on the classroom’s Boxlight interactive display board funded by a pervious tech levy on Tuesday, March 19, 2024 in Marysville, Washington. (Olivia Vanni / The Herald)
Lakewood School District’s new levy pitch: This time, it won’t raise taxes

After two levies failed, the district went back to the drawing board, with one levy that would increase taxes and another that would not.

Alex Hanson looks over sections of the Herald and sets the ink on Wednesday, March 30, 2022 in Everett, Washington. (Olivia Vanni / The Herald)
Black Press, publisher of Everett’s Daily Herald, is sold

The new owners include two Canadian private investment firms and a media company based in the southern United States.

Support local journalism

If you value local news, make a gift now to support the trusted journalism you get in The Daily Herald. Donations processed in this system are not tax deductible.