‘Substantial’ clinical and economic burden found for US Rett patients

Real-world study underscores need for effective therapies

Andrea Lobo, PhD avatar

by Andrea Lobo, PhD |

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Individuals with Rett syndrome experience a “substantial” clinical and economic burden throughout their life, according to a new real-world study in the U.S.

Altogether, the study found, the high prevalence of clinical symptoms, increased use of healthcare resources, considerable healthcare costs, and great reliance on medications and supportive therapies reflect the significant disease burden on patients with the rare neurodevelopmental disorder.

“These findings underscore the unmet need for effective therapies to manage the multifactorial manifestations of [Rett syndrome] and restore function to activities of daily life for patients,” the researchers wrote.

The study, “Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study,” was published in the journal BMC Neurology.

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Rett syndrome is estimated to affect 1 of every 10,000 girls in the U.S. by age 12. The first symptoms usually start in infancy, between the ages of 6 and 18 months, with regression or loss of acquired skills, and issues affecting speech, hand function, walking, learning, mood, and breathing.

In almost all cases, the disease is caused by mutations in the MECP2 gene on the X chromosome. This gene contains instructions to produce the MeCP2 protein that regulates the activity of other genes by switching them on or off, playing a critical role in brain development and function.

There are studies reporting the high disease burden of respiratory and spine symptoms among patients, with a noted need for surgical correction of spinal deformities for many.

However, the scientists wrote, “the literature remains scarce when evaluating the overall [healthcare resources utilization] and healthcare costs associated with [Rett] among patients in US clinical practice” — with the team noting it represents “a much-needed area of research.”

To address these knowledge gaps, the researchers analyzed data from Rett patients identified in IQVIA medical claims and prescription databases. These are large, open, anonymous databases of medical claims from office-based physicians and specialists, and prescription claims from pharmacies and transactional records.

The annual prevalence, or number of people with the disease in the population between November 2016 and October 2019 was 0.3–0.32 per 10,000 people, and was higher among females (0.45-0.52 vs. 0.08-0.1 in males).

The number of new cases — known as the disease’s incidence rate— per year was 0.34 and 0.23 per 10,000 participants in 2018 and 2019, respectively. Among females, the annual incidence, also per 10,000 females, was 0.43 in 2018 and 0.31 in 2019. Meanwhile, for males, incidence was 0.22 for 2018 and 0.13 for 2019, both per 10,000 people.

By age, the incidence per 10,000 participants in 2018 was 1.4 for ages 0 to 4 years, 1.53 for ages 5 to 10, and 1 for ages 11 to 17. In 2019, it was 1.25 for ages 0 to 4 years, 0.92 for ages 5 to 10, and 0.67 for ages 11 to 17.

Of a total of 5,940 female patients, 52% (3,078) were children and 48% (2,862) were adults, with a mean age of 20.

During a mean observation period of nearly two years, the most prevalent clinical signs among females were neurological conditions (72.8%), mainly epilepsy (52.1%), followed by gastrointestinal and nutritional issues (41.9%), and orthopedic disorders (34.6%). The prevalence of neurological and gastrointestinal problems was highest during early childhood, between ages 1 and 3, and at 2 years, respectively.

Following diagnosis, female patients used healthcare resources a mean 44.43 times per patient per year, including home/hospice care (16.31 visits), outpatient visits (9.58), and therapeutic service visits (7.26). Nearly half of this use (47%) was attributed to Rett.

Findings from this real-world study highlight the substantial disease burden experienced by patients with [Rett].

Mean total healthcare costs were $40,326 per patient per year, including $34,772 (86%) in medical costs and $5,554 (14%) in adjudicated pharmacy costs. They were mainly related to home/hospice care visits ($12,054), followed by therapeutic services ($7,071), outpatient visits ($6,791), and inpatient visits ($6,088).

Rett-related costs accounted for 45% of total healthcare costs. These included medical costs of $14,643 and $3,428 in adjudicated pharmacy costs. The main drivers of Rett-associated medical costs included home/hospice care visits ($5,026), therapeutic services ($3,973), outpatient visits ($2,692), and inpatient visits ($2,235).

The use of healthcare resources by any cause was higher among children — 52.43 versus 35.86 among adults — which translated into higher healthcare costs: $45,718 vs. $34,548.

The most prevalent supportive therapy was feeding assistance, required by 37.9% of patients, and the main medications used were anti-epileptic, by 54.8% of patients.

“Findings from this real-world study highlight the substantial disease burden experienced by patients with [Rett],” the researchers wrote. The clinical and economic burden suggests a “substantial unmet need for treatment options that may modify the disease course and progression of [Rett] rather than managing its symptoms,” they added.

According to the team, future studies are required to establish a standard of care for those living with Rett syndrome, and develop therapies that may enhance their quality of life.