Economic burden of Sanfilippo in US over 2 decades may top $2B

New study estimates costs of rare disease to US economy from 2023 to 2043

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

Share this article:

Share article via email
A bandage covers a large crack in a pig-shaped bank that's pictured alongside a prescription pill bottle and two capsules.

Over the next two decades, the economic burden of Sanfilippo syndrome in the U.S. is expected to exceed $2 billion, according to research that the National Institutes of Health (NIH) called “the first disease burden value estimate” ever done for the rare disease.

“Our results suggest that [Sanfilippo syndrome] will cause an estimated burden of $2.04 billion between 2023 and 2043 in the US including direct medical/non-medical costs, children’s health lost, caretaker mental health, and lost wages,” the researchers wrote in the study, titled “Economic Burden of Sanfilippo Syndrome in the United States.

The paper was published by the NIH as a preprint prior to undergoing peer review — meaning the study has not yet undergone the rigorous double-checking usually performed before the publication of scientific studies. The work was funded by the federal medical research agency, and conducted with support from the National MPS Society, a nonprofit advocacy group.

Sanfilippo syndrome is a genetic disorder that leads to a form of childhood dementia. The study estimates that it occurs in 0.27 of every 100,000 live births in the U.S.

“The severe burden associated with the disease for individual families demonstrates a considerable cumulative impact,” the researchers wrote.

Recommended Reading
#RAREis Representation program | Horizon Therapeutics | illustration of hands-in

More Studies Confirm Hefty Economic Burden of Rare Diseases

Seeking to put a pricetag on the economic burden of Sanfilippo in US

It is well-established that Sanfilippo syndrome has a heavy impact on individuals living with the disease, as well as on patients’ family members. In this study, scientists set out to measure the extent of this impact in purely cost-related terms, by estimating the economic burden of Sanfilippo on families.

Put simply, their analysis estimated the average economic value that would be generated by a person with Sanfilippo, then compared that value against the expected value from someone without the disease.

In a similar manner, they compared the value that would be produced by the parent of a child with Sanfilippo, compared with a parent of a child who does not have the disorder. These models took into account the fact that many Sanfilippo parents have to work less to help care for their child, as well as the fact that Sanfilippo parents are at heightened risk of other issues that can limit economic productivity. Such issues include depression and post-traumatic stress disorder (PTSD), a mental health condition marked by extremely strong and long-lasting emotional reactions to stressful or frightening events.

The models also included estimates for the cost of medical care for someone with Sanfilippo syndrome.

Based on these models, the researchers estimated that the total economic burden of Sanfilippo for a family is more than $8 million per child.

From a theoretical economics point of view, this means that a hypothetical treatment that could completely cure Sanfilippo would deliver more than $8 million in value to the world that would not have been possible otherwise.

The researchers cautioned, however, that this figure “is a representation of the total potential present value of curative treatment from the point of childbirth, not a price target” for future therapies. Realistically, the team noted, any future treatment “will likely recover a fraction of this burden.”

Recommended Reading
Main graphic for column titled

Sanfilippo Families on TikTok Are Coming Together to Find a Cure

Lost wages for each Sanfilippo child in US likely to average over $1M

The researchers then took into account how common Sanfilippo syndrome is, as well as the expected birth rate over the next few decades. That allowed the team to estimate the total burden of Sanfilippo on the U.S. economy over the next 20 years, from 2023 to 2043. Their result showed a total estimated economic burden of $2.04 billion.

“Each family who bears a child afflicted with [Sanfilippo] can expect to lose on average a present value between $0.89-$1.32 million in lost wages alone, $34.8-$47.6 thousand in medical out-of-pocket expenses, and $219-$304 thousand in non-medical costs,” the researchers wrote.

The cumulative disease burden without considering direct cost is estimated to be around $100 million (USD 2023) per year for the next few decades based on our analysis. … Investing in a cure would potentially be highly valuable

Numerically, most of the economic burden was due to reduced productivity by the person with Sanfilippo syndrome. Reduced productivity from parents accounted for about a fifth of the total economic burden in the models.

“One important finding to our analysis is that the caregiver economic burden was relatively small in comparison to the burden to the child,” the researchers wrote.

The researchers stressed that these models are only estimations, but they said the findings nonetheless highlight the substantial burden imposed by Sanfilippo syndrome. The researchers also noted that these models assume that the cost of Sanfilippo care remains constant over time, so they may not be accurate as new treatments are developed.

“The cumulative disease burden without considering direct cost is estimated to be around $100 million (USD 2023) per year for the next few decades based on our analysis,” the team wrote.

“Investing in a cure would potentially be highly valuable,” they added.