Earlier moves to specialist, better therapies welcome, patients say
Discussion of patient experience shows an emphasis on quality of life
People with pulmonary sarcoidosis believe earlier referrals to specialists could improve the diagnostic process and call for new treatment approaches leading to a better quality of life, according to findings from a discussion with patients from six countries.
They also questioned the “concept of remission” in a multiorgan disease like sarcoidosis, and voiced a willingness to accept reasonable side effects for treatments that limit disease progression.
The study, “Living with sarcoidosis: Virtual roundtable dialogue with patients and healthcare professionals,” was published in Respiratory Medicine.
Path to a sarcoidosis diagnosis ‘often convoluted’
Sarcoidosis is caused by inflammatory clumps of immune cells that can affect organs throughout the body, causing a wide range of symptoms in patients. “The disease’s [variability] complicates the study of patients’ experiences,” the researchers wrote.
A team of scientists in the U.S., Italy, and at Novartis used a virtual platform to host a discussion with a group of nine sarcoidosis patients from the U.S., Australia, Japan, Denmark, Germany, and Italy. Three expert clinicians also were available for explanations and comments.
Novartis, which also funded the study, is testing its therapy candidate CMK389 in people with pulmonary sarcoidosis in a Phase 2 trial (NCT04064242). The study is enrolling eligible patients at sites across the U.S. and Europe.
A combination of closed and open questions was included in the roundtable, with a goal of better understanding “patients’ life experience, unmet needs and views on existing and hypothetically emerging treatment options,” the researchers wrote.
Patients’ age ranged from 44 to 73, and four were women. They had been living with sarcoidosis for at least three years to more than three decades, and all had pulmonary sarcoidosis.
Five rated their own disease as mild, two as moderate, and two as severe. For most of the patients, self-rated disease severity varied from day to day, the researchers noted.
Their journey with sarcoidosis generally began with symptoms like a persistent cough or shortness of breath that prompted them to seek medical attention. A involved process to arrive at a proper diagnosis followed.
“Frequently, the first [healthcare providers] contacted had little awareness of sarcoidosis and were focused on other possibilities such as cancer or tuberculosis. The path to a diagnosis was often convoluted, with up to 4 physicians involved along the way,” the researchers wrote.
Value most a therapy that promotes a good quality of life
Despite these difficulties, the discussion group overall expressed satisfaction with their clinicians during the diagnostic process. Still, the group agreed that the diagnostic process could be improved by getting patients referred out to specialists more quickly.
The patients attributed their disease severity to “reduced physical activities, side effects from treatments, the need to adhere to treatment schedules and the psychological burden of having to request assistance from others,” the team wrote.
Most patients described themselves as “living with a disease” rather than “being ill,” which was seen as an important distinction for many.
“Living with the condition entailed reducing and adapting leisure activities, finding new ways for families and couples to engage with one another, and developing the mindset to have ‘the opportunity to appreciate every moment in life,’” the researchers wrote.
Most patients were initially treated with corticosteroids like prednisone and corticosteroid-sparing agents such as methotrexate. They generally continued to use these agents long term: While many attempted to reduce their corticosteroid dose, in most cases this led to a disease flare.
When asked about the most important factors for trying a hypothetical new treatment, patients generally valued most the therapy’s ability to improve their life, followed by a reduction in disease progression and severity.
“I can live with some side effects if the treatment improves symptoms, quality of life and activity level,” one patient said.
A therapy’s side effect profile was seen as less important than its effect on life quality, though patients noted that these were related. “If the side effects flatten me, the treatment is not improving my quality of life,” a patient said.
All expressed fears about future disease flares, particularly as they would mean a need to increase corticosteroid doses, which can cause side effects like mood swings, weight gain, and high blood pressure.
“Fear of disease progression and spread to other organs was also common,” the researchers wrote, noting that many of the participants were skeptical of the idea of their disease being in remission since there is always a risk of future worsening.
Participants noted a need for better tools to help predict the likely course of sarcoidosis. They also highlighted a need for new therapies that can target the underlying cause of sarcoidosis and work to prevent the disease from worsening, rather than just managing symptoms.
“In summary, this interactive exchange provided important insights into how people with sarcoidosis experience their condition in dialogue with other patients and with expert clinicians available for clarifications,” the researchers wrote.
“Important concerns raised by the sarcoidosis patients included the need for more rapid referral to specialists, distrust of the concept of remission in sarcoidosis, and the need for new therapies targeted at reducing disease progression and improving symptoms and [quality of life] rather than corticosteroid withdrawal,” they added.