Clinician-to-Clinician Update Clinician-to-Clinician Update

New Therapies and Early Care Benefit Patients with Cystic Fibrosis

August 2016

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— Minnesota Cystic Fibrosis Center provides diagnosis and care for infants with positive newborn screens. (Patient not pictured) ©iStock

Worldwide about 70,000 people have cystic fibrosis (CF), and it is most common in Caucasian people of Northern European descent. In the United States, CF is diagnosed in approximately 1 in 3,500 newborns.1 Caused by inherited mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the condition causes mucus in the airways to become thicker and stickier, leading to persistent lung infections. It is also associated with an impaired gastrointestinal system. The condition results in losses of key digestive nutrients, poor growth, damage to lung tissue, and premature mortality.2 Thirty years ago, a person with CF was not expected to reach adulthood. In 2014, because of advances in early diagnosis and routine treatment, the median predicted survival age advanced to 39.3 years.1

All 50 states now require that newborns receive screening for CF. Each infant in the state of Minnesota has been screened since 2006. Positive CF screening results are relayed to primary care providers in the community, who refer patients for a confirmatory sweat test at a Cystic Fibrosis Foundation-accredited CF center. As an accredited center, the Minnesota Cystic Fibrosis Center offers sweat testing, comprehensive genetic counseling, a clinical evaluation, and treatment if needed. The Minnesota Cystic Fibrosis Center has offered CF care for over 50 years and contributed to the effort to add CF screening for all newborns in the state.

One of 120 accredited clinical centers nationwide, the center’s multidisciplinary team provides care tailored to meet the needs of children and adults living with CF. The team includes physicians, nurse practitioners, dieticians, and respiratory therapists as well as psychologists, social workers, genetic counselors, pulmonologists, and gastroenterologists among other experts from a variety of clinical specialties.

Cystic Fibrosis Foundation-accredited centers have extended life expectancy by focusing on early, aggressive preventive care. Emphasizing the importance of adequate nutrition early in life and promoting daily airway clearance to clear mucus that builds up in the lungs allow for improved quality of life and increased life expectancy.3

Children diagnosed with CF through newborn screening and who receive early, aggressive treatment beginning at diagnosis have been found to have better health outcomes than children who begin routine treatment at a later age (4 to 14 months).2 Children diagnosed and treated early accrue several health benefits. These include improvements in lung function and overall growth, reduction of airway inflammation, less incidence of mucoid P. aeruginosa infection, a delay in chronic airway infection, fewer hospitalizations, and an improved rate of survival.2

For the first time, drugs that target the underlying defect in the CFTR gene are in clinical trials. In 2012, the FDA approved ivacaftor, the first drug to treat the defective CFTR protein instead CF symptoms only. Unfortunately, only 4% of people with CF have the one mutation that makes them eligible for this approved drug. In 2015, the FDA approved a second combination-drug therapy, ivacaftor/lumacaftor, for use in people with the most common CFTR mutation. More than half of people with CF fit this profile and are eligible for this combination drug.4 University of Minnesota Health patients with CF participated in these clinical trials. New drugs and new treatments for CF are currently being investigated in major clinical trials5, and a large number of CF clinical trials are available through University of Minnesota Health physicians and facilities.

To find current clinical trials available through M Health providers, visit studyfinder.umn.edu.

References

  1. Cystic Fibrosis Patient Registry. 2014 Data Report to the Center Directors. Bethesda, MD: Cystic Fibrosis Foundation; 2015.
  2. Van Devanter D, Kahle J, O’Sullivan A, Sikirica S, Hodgkins P. Cystic fibrosis in young children: A review of disease manifestation, progression, and response to early treatment. Journal of Cystic Fibrosis. 2016;15(2):147-157. doi:10.1016/j.jcf.2015.09.008.
  3. O’Sullivan B, Freedman S. Cystic fibrosis. The Lancet. 2009;373(9678):1891-1904.doi:10.1016/s0140-6736(09)60327-5.
  4. Cystic Fibrosis Patient Registry. Highlights of the 2014 Patient Registry Data. Bethesda, MD: Cystic Fibrosis Foundation; 2015.
  5. Kumar S, Tana A, Shankar A. Cystic fibrosis — What are the prospects for a cure? European Journal of Internal Medicine. 2014;25(9):803-807. doi:10.1016/j.ejim.2014.09.018. Journal Of Internal Medicine. 25(9), 803-807. http://dx.doi.org/10.1016/j.ejim.2014.09.018

When to refer

The Minnesota Cystic Fibrosis Center, affiliated with University of Minnesota Health hospitals and clinics, is one of the largest and most experienced such centers in the world. Designated a Therapeutics Development Center by the Cystic Fibrosis Foundation, the center is a leader in the clinical care of patients with cystic fibrosis (CF) and heads leading-edge research into the complications of CF and their management.

As an accredited center, our center can accept referred infants and perform confirmatory sweat tests. The sweat test determines whether the patient has CF or is a carrier of only 1 CFTR mutation. At our center, 2 genetic counselors work directly with community providers and families to answer questions and walk them through the steps necessary to obtaining the sweat test. Most infants are seen within 2 weeks after a positive newborn screen, although some high-risk infants—those with 2 gene mutations, for instance—can be seen at the Minnesota Cystic Fibrosis Center within 24 hours after test results are released.

Our pediatric CF team members are dedicated full time to CF patients. The team includes pediatric pulmonologists, gastroenterologists, endocrinologists, and psychologists, a nurse practitioner, nurse coordinators, a social worker, a dietician, a respiratory therapist, and genetic counselors, among other specialists. A variety of clinical subspecialists provide crucial expertise tailored to each patient’s needs. At age 18, patients can transition and receive continued care at the University of Minnesota Cystic Fibrosis Adult Program.

To refer pediatric CF patients or schedule a sweat test:
612-365-6777

To connect with a care coordinator for pediatric and/or adult CF patients: 612-625-5995 or toll free at 1-800-688-5252, ext. 55995; Fax: 612-624-0696

Adult CF patients are cared for at University of Minnesota Health Clinics and Surgery Center.

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