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Black Patients with ALS Face Significant Diagnostic Delays, Large Study Confirms

Article In Brief

A new study found that Black patients with amyotrophic lateral sclerosis (ALS) experienced longer delays to being diagnosed with ALS than White patients. Societal determinants of health, such as disparities in access to care, may play a role, independent sources said.

Although they had a longer median survival, Black patients with amyotrophic lateral sclerosis (ALS) took nearly a year longer to receive a diagnosis and had lower baseline ventilatory and functional status at their first clinic visit compared with White patients, according to a new study published online December 28 in Neurology from investigators at Emory University School of Medicine.

The researchers reviewed 23 years of data (1997-2020) for patients seen at the Emory ALS Center; patients were included in the study if their race was self-reported as Black or White and symptom onset was before January 1, 2017 (to allow for adequate analysis of survival time). A total of 1,298 patients were included in the analysis, 203 of whom were Black, and 1,095 of whom were White.

Black patients were more than 2.5 years younger than White patients at the time of symptom onset (mean difference 2.59 years, 95% CI 0.69-4.5), and experienced a delay of approximately eight months from symptom onset to diagnosis compared with White patients (8.04 months, 95% CI -13.20- -2.89). Their baseline scores on the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) were significantly lower (mean difference 4.73 points, 95% CI 3.15-6.31), as was their baseline forced vital capacity (FVC) (mean difference 18.29%, 95% CI 14.12-22.41).

These findings “could suggest the presence of access or referral barriers to a tertiary care center,” wrote the authors, led by Jonathan Glass, MD, professor of neurology and director of the Emory ALS Center. “Further study of these findings is needed, and potentially targeted interventions are needed to ensure equitable referral and access to ALS diagnostic centers. Lower median incomes were noted for [B]lack patients compared to [W]hite patients, which could also contribute to inequities in care.”

By contrast, Black patients had a 54-month median survival compared to 44 months for White patients (hazard ratio 0.76, 95% confidence interval 0.64-0.90), but importantly, the authors found that race was not associated with survival when controlling for age at symptom onset, bulbar onset, and positivity for the C9ORF72 gene.

This is an important finding, suggested Catherine Lomen-Hoerth, MD, PhD, professor of neurology at the University of California, San Francisco (UCSF) and director of the ALS Center at UCSF Medical Center, who was not involved with the study. “It tells us that there are no inherent differences in the disease process between patients who are Black compared with those who are White, once we account for factors like site of onset and time of disease onset. That has been controversial in the literature previously.”

Disparities in Outcomes

A small retrospective case-controlled study published in Neurology in 2019 found that Black people with ALS lived longer than White patients, but that may have been due to the fact that they received tracheostomies at three times the rate of Whites.

“Once you have a tracheostomy and a ventilator, patients can live longer, but with this disease that may not be with a good quality of life for some,” said lead author Michael Cartwright, MD, professor of neurology at Wake Forest Baptist Medical Center. “Although we couldn't pinpoint why Black patients had more tracheostomies in our study, we do know that earlier interventions, such as breathing masks, can slow down the rate of decline and provide patients more time and options for dealing with the disease.”

Particularly troubling in the current study, said Dr. Lomen-Hoerth, is the finding that patients who were Black took nearly a year longer to get a diagnosis of ALS and had reached a more advanced disease state at the time of diagnosis.

“This is consistent with what has been found in previous studies, and it has a lot of consequences. First, these patients are less likely to be eligible for clinical trials because you have to be early on in the disease process for that. Also, they will have missed out on potentially important measures that help to prolong quality and quantity of life, such as a PEG [percutaneous endoscopic gastronomy] tube or using a Trilogy vent non-invasively. Sometimes patients present too late to get a feeding tube because it would be too risky a procedure or too hard for them to acclimate to the non-invasive ventilation. It's clear from this large and rigorous study that patients with ALS who are Black are having delayed access to care.”

The study found that Black patients represented 13.9 percent of the ALS Center's clinical population, substantially lower than the 34.3 percent of the population of metro Atlanta identified as Black and less than the 15.6 percent in the general national population. This is consistent with other studies suggesting that ALS is less prevalent in Blacks compared to Whites, but Dr. Lomen-Hoerth said the study's other findings may call this one into question.

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“It tells us that there are no inherent differences in the disease process between patients who are Black compared with those who are White, once we account for factors like site of onset and time of disease onset. That has been controversial in the literature previously.”—DR. CATHERINE LOMEN-HOERT

“I would say we really don't know that information,” she said. “If a patient dies before receiving access to care and obtaining a diagnosis, they could have had ALS without anyone knowing it. So I'd anticipate that the prevalence of ALS in the Black population is higher than we might think, because of the barriers to care that this study highlights.”

Social Determinants

The social determinants of health, such as living conditions, employment status and economic stability, health insurance coverage, and health literacy that contribute to health care disparities for Black people in the United States have a heightened effect when it comes to access to care for a disease like ALS, says Mohamad Kazamel, MD, associate professor of neurology and a neuromuscular disease specialist at the University of Alabama at Birmingham.

“In order to suspect ALS in a patient, that person first needs to have a primary care provider. That primary care provider then needs to refer them to a neurologist. Because ALS is a life-changing and drastic diagnosis, most general neurologists do not make such a diagnosis on their own, but refer the patient to a neuromuscular/ALS specialist,” he pointed out.

“This means that most of the time, a patient needs to be seen by at least three clinicians to be diagnosed with ALS. Not everyone has that kind of insurance.” Issues like transportation, time off work, and child care can also pose barriers in getting to the multiple appointments required for even an initial diagnosis of ALS.

“Ultimately, the goal of all this research looking into this question is to improve the care of our patients, and we want to use our findings to learn how to improve access for Black patients with possible ALS,” said Dr. Cartwright. “This isn't a new finding: it's a confirmation of older findings in a larger study population. Multiple studies have shown the same findings, and we now need to truly dive into what is determining these differences. It's unlikely that they are genetic and much more likely that they are related to social determinants of health, but we need to keep figuring out how to address these issues, most importantly so that we don't have such a discrepancy in how long it takes for Black patients to be diagnosed.”

Dr. Kazamel also noted that, although the study found that median income was not associated with survival in the current study, economic limitations definitely affect access to therapies for Black patients.

“Right now, the two FDA-approved medications for ALS [riluzole and edaravone] are both quite expensive, and many insurance carriers have imposed specific requirements for coverage,” he said. “Some carriers who have large markets here in Alabama, for instance, have required us to follow certain criteria, such as having a score of more than two on each of the ALS score domains, having a baseline FVC of at least 80 percent of what is predicted for sex and height or being within two years or less from diagnosis. All of that has limited access to treatment in general, and for Black patients in particular, since, as this study points out, they are likely to experience delays in diagnosis.”

Dr. Kazamel described one of his patients, a Black retired police officer, who was asked to pay $4,000 in copays for edaravone during his first year of treatment alone. “He couldn't afford that,” Dr. Kazamel said.

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“In order to suspect ALS in a patient, that person first needs to have a primary care provider. That primary care provider then needs to refer them to a neurologist. Because ALS is a life-changing and drastic diagnosis, most general neurologists do not make such a diagnosis on their own, but refer the patient to a neuromuscular/ALS specialist.”—DR. MOHAMAD KAZAMEL

Dr. Kazamel and his patient visited with his member of Congress, Terri Sewell (D-AL-07), as part of the AAN's Neurology on the Hill program in 2018, and Rep. Sewell has since served as a co-founder of the Congressional ALS Caucus, which works on policy solutions to barriers such as these. But solutions have proven elusive for this patient so far, who is still able to afford only riluzole.

“ALS is another example of a disease in which patients who are Black are not getting the care they need as quickly and easily as patients who are White,” says Dr. Lomen-Hoerth. “So as a result, they are presenting in a more advanced disease state, which impacts their access to clinical trials and some of the preventive care that works better early on in the disease course. This is an imperative for us as neurologists and ALS specialists to address.”

Link Up for More Information

• Brand D, Polak M, Glass JD, Fournier CN. Comparison of phenotypic characteristics and prognosis between Black and White patients in a tertiary ALS clinic https://n.neurology.org/content/early/2020/12/28/WNL.0000000000011396.abstract. Neurology 2020; Epub 2020 Dec 28.
    • Qadri S, Langefeld CD, Milligan C, et al. Racial differences in intervention rates in individuals with ALS: A case-control study https://n.neurology.org/content/92/17/e1969. Neurology 2019 3;92(17):e1969–e1974.