Nearly 39,000 people with CF thought to be living in US in 2020

CF Foundation study also estimates 77% of patients participated in its registry

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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Nearly 39,000 people were estimated to be living with cystic fibrosis (CF) in the U.S. in 2020, up from the roughly 34,000 estimate made in 2012, a study led by the Cystic Fibrosis Foundation reported.

A majority — about 77% — of these people also took part in the CF Foundation Patient Registry (CFFPR) in 2019 or 2020, supporting the registry as “the most representative source of data on individuals with CF,” the scientists wrote. Children younger than 15 years of age had the highest participation.

Recent increases in CF rates likely reflect more efficient CF diagnosis, earlier referrals to accredited care centers, and better survival rates, the team added.

The study, “Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020,” was published in the Journal of Cystic Fibrosis.

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CF registry collects data on patients seen at accredited CF care centers

The CFFPR was established in 1968 to collect long-term data on CF patients being treated at CF care centers, all accredited by the foundation, across the U.S. The current registry is updated annually.

Among its many uses is that of serving as a source for estimates of CF prevalence and how it changes over time, and patient demographics.

Using the registry, scientists estimated CF prevalence in the U.S. in 2012 to be between 33,292 and 34,327 people, with between 81% and 84% of them having participated in the CFFPR.

Researchers again worked with simulations of available data to establish new estimates for 2020, while also taking into account various factors, such as statewide newborn screening programs, patient groups by race and/or ethnicity, and survival.

A median of 53,900 children were estimated to have been born with CF between 1968 and 2020. Most of them, 45,714 or nearly 85%, were white; 4,780 were Hispanic; 2,482 were Black (non-Hispanic); and 930 were of other racial groups.

An estimated 15,100 of these children are thought to have died. Between 70% and 80% of those born in 1968 did not survive into 2020, analyses showed, with more than 98% of those born after 2010 alive today.

The estimated prevalence of CF in 2020, or the number of CF patients living in the U.S., was set at 38,804 people.

More than 90% of them also participated in the CFFPR at some point in their lives, the scientists determined.

Limiting the analysis to those who contributed data in 2019 or 2020, the number of registry participants was 30,000 — amounting to 77% of the estimated CF population in the U.S.

More than 90% of children age 10 or younger participating in registry

Registry participation was highest among children and younger adolescents, and lowest among adults.

“Among individuals <15 years of age, participation in 2019 or 2020 was between 85% and 93%. In contrast, among adults born between 1968-1975, we estimated 54.8% … contributed recent data,” the scientists wrote.

While exact reasons for lower adult participation are not known, the researchers speculated that as people with CF live longer, a “loss-to-follow-up may play a role,” with some patients not transitioning to an accredited adult CF care center.

The 2020 estimate for median predicted survival with CF was 50 years old.

The widespread adoption of newborn screening for CF also might explain the high rate of participation — exceeding 90% — among children ages 10 and younger. Screening enables not only “more timely diagnosis but also earlier referral to the CF care model and possibly improved CFFPR participation,” the researchers wrote.

Overall, the scientists believe their estimates of CF prevalence are “plausible at the population level.”

While their estimation model accounted for various factors, the team noted it was limited by not accounting for changes in newborn screening algorithms over time or the COVID-19 pandemic’s potential impact on diagnosis.

“Looking to the future, the prevalence of CF may continue to increase as CF survival increases,” the researchers wrote.

“Improvements in CF diagnosis and increased awareness of CF as disease that affects non-White populations, coupled with improved gene sequencing techniques, may also result in more diagnoses, particularly among adults,” they added.