Cystic Fibrosis News Today brought you daily coverage on research discoveries, treatment developments, clinical trial updates, and other important information related to cystic fibrosis (CF) throughout 2020, a year marked by the COVID-19 pandemic.
As we look forward to bringing you more CF news next year, we present our top 10 most-read stories of 2020.
A study published in the journal BMC Pulmonary Medicine found that more than 70% of home nebulizers used by children with CF have microorganism contamination. Researchers analyzed samples from nebulizers used at home at least once a day by 61 children with CF in Iran. Of these nebulizers, 43 were found to be contaminated, 24 of which contained potentially harmful microorganisms. Patients with contaminated nebulizers had an increased risk of exacerbations of symptoms requiring hospitalization and intravenous antibiotic treatment. Based on the findings, the researchers concluded that there is a need for programs that educate patients and families about nebulizer maintenance to lower potential health risks to CF patients.
In February, the National Institute for Health and Care Excellence (NICE) announced that it would deliver a decision regarding the approval of Trikafta for the treatment of CF in the U.K. by the end of 2020. Developed by Vertex Pharmaceuticals, Trikafta (Kaftrio in the U.K.) is a next-generation combination of three CFTR modulator therapies — elexacaftor, tezacaftor, and ivacaftor — that alter the activity of the CFTR protein that is defective in CF. The therapy was subsequently made available to patients in the U.K. following approval by the European Commission in August.
Several months after Trikafta’s approval, patients and clinicians alike were praising the therapy for its effectiveness. “I’ve been more stable than I ever have been in my adult life,” said Meranda, a CF patient who, at that point, had been on Trikafta for nearly two years as part of a study. In an interview with Cystic Fibrosis News Today, JP Clancy, MD, vice president of clinical research at the Cystic Fibrosis Foundation, expressed his excitement at the “very positive” feedback about the therapy’s effectiveness from CF patients and their doctors in the months since it became available on the market. To further examine the biological and clinical effects of Trikafta, an observational study called PROMISE (NCT04038047) was launched, expected to enroll 490 patients, ages 12 and older.
In a report from the Institute for Clinical and Economic Review (ICER), Trikafta received the highest evidence rating (an “A”) for the treatment of CF patients with either two copies of the F508del mutation — the most common CF-causing mutation — or one F508del mutation and a minimal function mutation in the CFTR gene. Although the report, titled “Modulator Treatments for Cystic Fibrosis: Effectiveness and Value,” found that the medication “provides a substantial (moderate-large) net health benefit,” it also recommended a significant reduction in price for the benefit it provides. ICER suggested that an appropriate health-benefit price for Trikafta would range from $67,900–$85,500 per year, a 73% discount off the therapy’s list price.
CF carriers — those who have genetic mutations in only one CFTR gene copy — are at a higher risk for CF-related conditions than healthy controls, according to a study published in the journal Proceedings of the National Academy of Sciences. Of the 59 conditions analyzed, CF carriers were at a significantly increased risk for 57, including conditions not previously linked to the carriers. such as constipation or diabetes. Researchers also found that conditions that were more prevalent in CF patients were also more widespread in CF carriers. They noted, however, that although they found an increased risk for CF carriers relative to healthy controls, the actual risk of developing the conditions was still quite low.
Proteostasis Therapeutics announced plans in January to launch two Phase 3 clinical trials of its experimental triple-combination therapy for CF by the end of the year. The announcement came after a meeting with the U.K. Medicines and Healthcare Products Regulatory Agency that outlined study design and safety. The trials, called MORE and CHOICES, will explore combinations of Proteostasis’ CFTR modulators, which include a CFTR potentiator called dirocaftor (previously known as PTI-808), the CFTR corrector posenacaftor (PTI-801), and the CFTR amplifier nesolicaftor (PTI-428). The CHOICES trial will investigate the possibility of using organoids for personalized medicine in CF, while the MORE trial will attempt to confirm Phase 2 results, which showed lung function benefits in patients given the triple combination, in addition to safety and effectiveness.
In a study published in the journal Cell Stem Cell, investigators used a new variation of the gene-editing technology CRISPR-Cas9 that can correct CFTR mutations in stem cells from CF patients without cutting the DNA, making it safer and more precise. Importantly, the tool was found to have the ability to correct CFTR mutations without causing further damage to the genome. Although promising, investigators emphasized that more research is required before the approach could be used to deliver the treatment to the affected cells in patients. In particular, they need to figure out a way to deliver the CRISPR tools to the proper cells.
A study published in the Journal of Cystic Fibrosis found a lower incidence of COVID-19 in CF patients and better-than-anticipated outcomes, comparable with the general population, in those who do contract the virus. The collaborative effort was based on data from CF patient registries in eight countries and ultimately included 40 CF patients who had contracted the virus. While still early, these results indicate that “the course of disease in CF may not be as severe as expected from initial data from patients with other underlying lung diseases,” the researchers wrote. However, they encouraged continued vigilance and adherence to safety measures as the research community is still learning about COVID-19 and its impact on certain patient populations.
Researchers at Children’s Hospital of Richmond who are involved in Trikafta clinical trials for CF described the therapy as “game-changing,” especially for younger patients, in comments made in January, roughly three months after its approval in the U.S. The therapy has proven particularly important for patients like 15-year-old Anna Thompson, who previously had no treatment options for her specific CFTR mutations. “The CF patient that is born today will be living a normal life and have a better quality of life. This drug will be life transforming, especially for younger patients. This is game-changing,” said Joel Schmidt, MD, director of the pediatric program at the Cystic Fibrosis Center at Children’s Hospital of Richmond.
Fittingly, COVID-19, arguably the most important story of 2020, also occupies the top spot on our list. Early in the COVID-19 response in the U.S., our March article shared advice on safety and precautions for the CF community from Richard K. Mathis, MD, medical expert and board member of Claire’s Place Foundation, a nonprofit organization that supports CF patients and their families. Mathis recommended people with CF avoid public gatherings, disinfect surfaces, wear an N-95 face mask, and quarantine after suspected contact with the virus.
Cystic Fibrosis News Today hopes these stories and our reporting throughout 2021 will contribute to informing and improving the lives of everyone affected by CF and their loved ones.
We wish all our readers a happy and bright 2021.
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