People living with cystic fibrosis face numerous health challenges, but have continued hope for an improved quality of life through ongoing research to target the root cause of this rare disease and ameliorate life-threatening symptoms. Many approved treatments and standard of care guidelines have proven to boost the median life expectancy, which has grown to nearly 40 years as compared to only 10 years in the 1960s.
Working with this special population of patients requires more than the standard level of care provided in clinical trials. From operational challenges in a study to patient recruitment, sponsors must account for many unique requirements to reach market success to make a difference for people with cystic fibrosis.
A developing history
The name cystic fibrosis was first created in 1938 by Dr. Dorothy Andersen when she identified a disease pattern of pancreatic abnormalities and respiratory disturbances in her autopsies of children. Around this time, many other researchers were also starting to make connections between the variety of symptoms and the disease, establishing the starting point for this crucial research.
In the 1950s, parents of children with cystic fibrosis established the Cystic Fibrosis Foundation to expand their options for care and bring greater attention to this rare disease. Today, researchers have a better understanding of treatment strategies and the genetic mutations that can cause cystic fibrosis.
Most people with cystic fibrosis are subject to a common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene; more than 1,700 mutations have been identified. One in 25 Caucasians is a carrier of the mutated CFTR gene, which results in one in 2,500 Caucasian babies in the U.S that are born with the disease.
Treatments for people can address the symptoms associated with cystic fibrosis and the root cause at the level of the defective CFTR protein or the channel that fails to effectively transfer chloride and water at the cell surface.
Examining operational challenges
Considering the complexity of the disease, cystic fibrosis trials require specialty sites that can handle all the necessary study steps required for managing cystic fibrosis. Many tests require complicated procedures and equipment; samples must be gathered and reported in a consistent manner.
Even seasoned global sponsors may be taken by surprise when venturing into the cystic fibrosis realm. They may not be aware of the challenges associated with the protocols and the level of documentation required. From a medical perspective, people with cystic fibrosis are considered very complicated patients.
For example, a sponsor testing an inhaled antibiotic for cystic fibrosis will need to consider the rigor required for these studies and how it goes beyond the requirements in a standard clinical trial given the multi-organ effect of cystic fibrosis. We can help sponsors navigate this process, provide highly specialized services and manage expectations to prepare them when entering this space for the first time.
Managing a wide age range
Now that modern medicine has extended the average life expectancy of people with cystic fibrosis treatment needs will change to reflect the needs of a wider age range. Pediatric experience in a trial will continue to be essential and must take into account the needs of families who are an essential part of their child’s daily treatment plan. Study participants and their caregivers are also well-educated about the availability of clinical trials and may be willing to travel long distances to join a trial. Sponsors and CROs need to consider the efforts a family will take to participate in a trial along with the impact on the family to follow a regime. A study can require significant commitment. Typical tasks include inhaling a medicine for two hours, taking timed medication and completing several questionnaires.
Fostering close site relationships
Given the level of care required with cystic fibrosis, patients often have close relationships with their specialty care sites. As a result, a study investigator will be well aware of the available participants for an upcoming study or when a patient will be completing an ongoing study and past the “washout” period. Sponsors can assist investigators by providing thorough information about the requirements to help them make the best match for their patients and make recruitment forecasts.
As a CRO with deep experience in cystic fibrosis studies, we recommend maintaining strong communication to ensure the sites fully understand their obligations and have the expertise to perform complex tasks.
Ongoing research on currently approved therapies and potential breakthrough therapies are the key for improving the lives of people with cystic fibrosis and provide hope to reach a cure. With a better understanding of the patient experience in a trial, sponsors can design stronger studies that ease the burden on sites, patients and their families in this ongoing, global effort. We remain committed to support sponsors’ efforts to meet patient needs and implement patient-centric practices through the life of a cystic fibrosis trial.
Cystic Fibrosis Foundation https://www.cff.org/About-Us/About-the-Cystic-Fibrosis-Foundation/Our-History/