Cystic Fibrosis Foundation

Joan Walton RN

Cystic Fibrosis Foundation

Research Goals

To increase understanding of CF complexity and disease progression

To enhance my ability to care for and understand patients with respiratory conditions and impaired mucus clearing capacities

To gain knowledge on how the CFF supports and aids the CF population.

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Cystic Fibrosis is a chronic progressive multi organ affecting genetic disease Cause: Faulty CFTR gene

CFTR Gene

Function: produces cystic

fibrosis transmembrane

conductance regulator

protein

Defect in gene and its

protein product leads to

faulty cellular water,

sodium, and chloride flow

Defect causes thick, sticky

mucus

Incidence

CF occurs equally in males

and females

Both parents must be

carriers

Child has a 25% chance of

contracting CF or being

unaffected

Child has a 50% chance of

becoming a carrier

CF Prevalence

30,000 or 1/3700 U.S. children

and adults have CF

Worldwide prevalence is

70,000

Approximately 1000 new cases

diagnosed each year

Affects nearly every race

Most common in Caucasian

of Northern European descent

1/2500 Caucasian births

affected

75% of new cases are diagnosed by age 2

Diagnosis

Newborn screening required in all states using a genetic test or blood test.

Positive genetic test reveals flawed CFTR gene.

Blood test shows abnormal pancreatic function.

2 Sweat tests confirm diagnosis if genetic or blood tests is positive

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Systems affected by CF

Complications

Bronchiectasis, chronic infections, nasal polyps, hemoptysis, pneumothorax, respiratory failure

Nutritional deficiencies, diabetes, rectal prolapse, intussusception

Osteoporosis, electrolyte imbalance

Respiratory

Gastrointestinal

Other

Testing Following Diagnosis

Genetic testing

Chest x-ray

Sinus x-ray

Lung function tests

To identify type of CFTR defect

Can reveal lung inflammation, scarring, or air trapping

May show signs of sinusitis

Measures inspiratory and expiratory capacity, respiratory rate, and blood oxygen level.

Testing Following Diagnosis

Sputum culture

Prenatal genetic screening

Carrier testing

Tests for bacteria in sputum

Pseudomonas presence may indicate advanced disease

Associated with an increased morbidity and mortality

May be completed by amniocentesis and chorionic villus sampling

Blood or saliva-tests for faulty CFTR gene, accurate in 9/10 cases

Care and Treatment Goals

Specialist care recommended

Available at major medical centers

>100 CF care centers in the U.S.

Medical teams consist of nurses, PT, dieticians, RT and social workers

Programs/clinics for adults and children

Treatment Goals:

Prevent and control lung infections

Loosening and removing thick, sticky mucus from the lungs

Prevent or treat intestinal blockages

Provide adequate nutrition

Prevent dehydration

Treatment

CPT or Chest Physiotherapy

Synonymous with postural drainage and percussion

Electric chest clapper or mechanical percussor

Inflatable therapy vest

Flutter valve or mask

Treatments

Exercise improves

physical condition

Increased and harder breathing

helps loosen mucus

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Treatments

Medicine:

Antibiotics

oral, inhaled or

IV

Anti

inflammatories

Mucus clearing

medicine

Bronchodilators

Synthetic enzymes-mucolytic

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Treatments

Ivacaftor

First drug to target faulty CTFR

gene and its protein product

May be prescribed in those

with G551D gene mutation

Occurs in 5% of people with

CF

Approved for those 6 years

and older.

Treatments

Pulmonary rehab recommended

Improves functional capacity, well being and life quality

Includes:

Exercise training

Nutritional counseling

Disease management education

Energy conserving techniques

Breathing strategies

Psychological counseling

Group support

Treatment

Digestive problems

Bulky stool

Swollen abdomen

Gas

Severe constipation

Pain and discomfort

Poor growth and development in children

Treatment

Well balanced diet:

Rich in calories, fat

and protein

Oral pancreatic

enzyme

replacement:

Enhances fat,

protein and CHO

digestion and

vitamin absorption

Treatment

Fat soluble vitamin (D,A,K,E) supplementation

High salt diet

Salt supplementation before exercising

Night tube feedings may be indicated

Enemas and mucus thinning medicines may be needed for intestinal blockages

Medications to reduce stomach acid may be prescribed to enhance pancreatic enzymes effectiveness

Treatment in Advance Disease

Oxygen

Lung transplant

Prognosis and Prevention

Nearly 50% of the CF population is 18 year old or older

Survival rate is nearly 37 years

Primary cause of death in 2013 was cardio-respiratory and transplant related

Early identification through newborn screening has

Increased survival rates

Improved lung function and growth

Lead to less intensive and cheaper therapy

What is the Cystic Fibrosis Foundation?

A non-profit donor-supported organization which is dedicated to attacking cystic fibrosis from every angle

The mission and focus of this organization is:

To cure CF

To provide all people with the disease the opportunity to lead full, productive lives by funding research and drug development, promoting individualized treatment and ensuring access to high-quality, specialized care

Non-profit donor-supported

Dedicated to attacking cystic fibrosis

from every angle

The mission and focus:

To cure CF

To provide those with CF the opportunity to lead full, productive lives through research funding, drug development, promoting individualized treatment and ensuring access to high-quality, specialized care.

Cystic Fibrosis Foundation History

Worlds leader in the search for a CF cure

Leading research funder

Established in 1955 in Philadelphia, Pennsylvania by a group of parents with CF children

Parents were looking at grants to fund CF medical research

CF children rarely lived to attend elementary school during this time

Today, based in Bethesda, Maryland

1989:CFF supported scientists discovered defective CTFR gene

CFF funds and accredits a national care center network recognized by the NIH as a model of care for chronic disease

As treatment became available survival rates increase

State and Local CFF champions

CFF has 70 chapters and branch offices across the country

Local Chapter:

Cystic Fibrosis Chapter of Western New York

Serves Allegany, Cattaraugus, Chautauqua, Erie, Niagara, Orleans and Wyoming Counties

Partners with community supporters to raise awareness and hold fund raising events

Funding

CFF fund raising events include Great strides, CF Cycle for Life, Finest Events, Xtreme Hike, Dinner Dances and Galas, Golf tournaments, CF Climb, fishing tournaments, American Airlines Celebrity Ski and Ultimate Golf Experience

Superdance- Annual CF fundraiser held at Bishop OConnell High School in Arlington, Virginia. 2015 is 40th year. Total funds raised is $3.9 million in support of research for a cure

Large private donations can be made through the Milestones Club

Local 2015 Cystic Fibrosis Foundation Events

June 2015 Greater Niagara BassEye Celebrity Challenge

August 2015 65 Roses Golf Tournament

September 2015 Tee Off Against CF

October 2015 Rising Stars

CFSAtional:Women of WNY

CFF Registry

Created nearly 50 years ago

Biannually published data report

Collects data from patients receiving care at CFF accredited care centers

Data collected on: health outcomes, clinical care and demographic characteristics

2013 report contained data on 28,000 CF patients

Data used to develop care guidelines and to study treatments and outcomes

Assists in guiding quality improvement initiatives and to design CF clinical trials

CF Exacerbation Evidence Based Practice Treatment Guidelines

Flume, P., Mogayzel, J. Robinson, K., Goss, C, Rosenblatt, R., Kuhn, R., Marshall, B., & the Clinical Practice Guidelines for Pulmonary Therapies Committee (2009) Pulmonary Perspective, Cystic Fibrosis Pulmonary Guidelines, Treatment of Pulmonary Exacerbations

10 guidelines developed by a CFF established committee

Recommendations based on review of research study results

Recommendation #1

IV antibiotic delivery in a nonhospital setting is not recommended unless resources and support are equivalent to the hospital setting

Bosworth, D. (1997) Effectiveness of home versus hospital care in the routine treatment of cystic fibrosis

Study subjects

Similar age

Similar disease severity

5 patients

27 home care courses/33

hospital care courses

Research comparison of

recommendation #1

Wolter, J., Bowler, S. Nolan, P., McCormack, J. (1997) Home intravenous therapy in Cystic Fibrosis: A prospective randomized trial examining clinical, quality of life and cost aspects

Study subjects

Adults and adolescents

CF exacerbations

17 patients

13 home care course/18 hospital care courses

Treatment: IV antibiotics and CPT

Outcome measures:

PF (FVC and FEV1)

changes

Measured at treatment start

and after 2 weeks

Treatment length

Interval between antibiotic

courses

Research comparison of

recommendation #1

Treatment: IV antibiotics and PT

Outcome measures:

Body weight

12 minute walking distance

12 hour sputum production

Room air pulse oximetry

LF improvement

Measured at treatment onset,

after 10 days and 10 days

following treatment

Findings:

Minimally supervised

homecare was less

effective than hospital

care

Home care increased

care cost by as much as

30% due to longer and

more frequent courses

of antibiotic therapy

Research comparison of

recommendation #1

Findings:

No clinical advantage

to home therapy, advantages

were related to quality of

life

Home therapy was less

costly and was found to be a

feasible alternative to

hospital care

Rochester Chapter

P.O. Box 368

Pittsford, NY 14534

Phone: 800-FIGHTCF

Email:bwebster@cff.org

Contact: Gia Coone

Contact information

Western New York Chapter-Buffalo

1775 Wehrle Drive, Suite 150

Williamsville, NY 14221

Phone: 716-204-2535

Email: west-ny@cff.org

Contact: Gia Coone

Central New York Chapter-Syracuse

2507 James Street, Suite 106

Syracuse, NY 13206

Phone: 315-463-7965

Email:central-ny@cff.org

Contact: Executive Director: Amy Spranger

Bibliography

American Lung Association (2010) Cystic Fibrosis, Retrieved March 22, 2015 from: http://www.lung.org/assets/documents/publications/solddc-chapters/cf.pdf

Bishop OConnell High School (n.d.) Superdance for Cystic Fibrosis, Retrieved April 4, 2015 from:http://www.bishopoconnell.org/page.cfm?p=679

Bosworth, D. (1997) Effectiveness of home versus hospital care in the routine treatment of cystic fibrosis, Pediatric Pulmonology, 24 (1):42-7, Retrieved March 31, 2015 from: http://www.ncbi.nlm.nih.gov/pubmed/9261852

Bibliography

Cystic Fibrosis Foundation Patient Registry (2013) Annual Data Report, Retrieved March 22, 2015 from:

http://www.cff.org/UploadedFiles/research/ClinicalResearch/PatientRegistryReport/2013_CFF_Annual_Data_Report_to_the_Center_Directors.pdf

Cystic Fibrosis Foundation (2013) An Introduction to Postural Drainage and Percussion, Consumer Fact Sheet, Retrieved April 11, 2015 from:

http://www.cff.org/UploadedFiles/treatments/Therapies/Respiratory/PosturalDrainage/An-Introduction-to-Postural-Drainage-and-Pecussion-03-2012.pdf

Cystic Fibrosis Foundation, (2014) What is Cystic Fibrosis? About Cystic Fibrosis, Retrieved March 21, 2015 from: http://www.cff.org/AboutCF/

Bibliography

Cystic Fibrosis Foundation, (n.d.) Find a Chapter, Retrieved March 30, 2015 from: http://www.cff.org/aboutCFFoundation/Locations/FindAChapter/

CFF, (n.d.) Find a Chapter, Retrieved April 4, 2015 from:http://www.cff.org/aboutCFFoundation/Locations/FindAChapter/index.cfm

Cystic Fibrosis Foundation, (n.d.) Help add tomorrows today, Your Way! Learn about signature events, Retrieved march 31, 2015 from: http://www.cff.org/GetInvolved/Events/

Cystic Fibrosis Foundation (n.d.) Ivacaftor, Retrieved April 3, 2015from:

http://www.cff.org/treatments/Therapies/ivacaftor

Bibliography

Cystic Fibrosis Foundation, (n.d.) Patient Registry Reports, Retrieved March 22, 2015 from: http://www.cff.org/LivingWithCF/QualityImprovement/PatientRegistryReport/

Cystic Fibrosis Foundation (n.d.) Western New York Chapter, Retrieved March 22, 2015 from: http://www.cff.org/Chapters/wny/AboutUs/

Cystic Fibrosis Foundation (n.d.) Western New York Chapter, Retrieved March 22, 2015 from:http://www.cff.org/Chapters/wny/

Dunford, N. Kell, B (2012) P. Aeruginosa bacteria associated with increased hospitalization in COPD patients, American Thoracic Society International Conference, Retrieved March 21, 2015 from: http://www.thoracic.org/about/newsroom/press-releases/conference/2012/jamil%20_sethi_%20final.pdf

Bibliography

Flume, P., Mogayzel, J. Robinson, K., Goss, C, Rosenblatt, R., Kuhn, R., Marshall, B., & the Clinical Practice Guidelines for Pulmonary Therapies Committee (2009) Pulmonary Perspective, Cystic Fibrosis Pulmonary Guidelines, Treatment of Pulmonary Exacerbations, Retrieved March 27, 2015 from: http://www.cff.org/UploadedFiles/treatments/CFCareGuidelines/Respiratory/CF-Care-Guidelines-Pulmonary-Exacerbations.pdf

NIH ( 2013 ) What are the Signs and Symptoms of Cystic Fibrosis, National Heart, Lung and Blood Institute, U.S Department of Health and Human Services, Retrieved April 13, 2014 from: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/signs

Bibliography

John Hopkins Cystic fibrosis Centers (n.d.) A Case of Cystic Fibrosis, Retrieved April 13, 2015 from: http://www.biologycorner.com/worksheets/case_study_cystic_fibrosis.html

Livraghi, A., Randell, S. (2007) Cystic Fibrosis and other respiratory diseases of impaired mucus clearance, Toxicologic Pathology, 35:116-129, Retrieved March 21, 2015 from: http://tpx.sagepub.com/content/35/1/116.full.pdf+html

Mayo Clinic (2015) Complications, Cystic Fibrosis, Retrieved March 21, 2015 from:http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/complications/con-20013731

Milestones Club (n.d.) Retrieved March 4, 2015 from: http://www.cff.org/UploadedFiles/aboutCFFoundation/MilestonesCampaign/MilestonesClub/Milestones-Club-Fact-Card.pdf

Bibliography

National Heart, Lung, and Blood Institute, U.S. Department of Health and Human Services (2013) How is Cystic Fibrosis Diagnosed? Retrieved March 28, 2015 from: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/diagnosis

National Heart, Lung and Blood Institute, U.S. Department of Health and Human Service (2013)How is Cystic Fibrosis Treated? Retrieved march 28, 2015 from: http://www.nhlbi.nih.gov/health/health-topics/topics/cf/treatment

Taccetti, G. Bianchini, E. Cariani, L. Buzzetti, R. Costantini, D., Trevisan, F. Zavataro, L., Campana, S. (2012) Early antibiotic treatment for Pseudomonas aeruginosa eradication in patients with Cystic Fibrosis, A randomized multicentre study comparing two different protocols, Thorax, 67 (10):853-859. Retrieved March 21, 2015 from: http://www.medscape.com/viewarticle/770787

Bibliography

U.S. National Library of Medicine, National Institute of Health, (2015) CFTR, Genetics Home Reference, Retrieved March 28, 2015 from: http://ghr.nlm.nih.gov/gene/CFTR

Vauntium, LLC (2015) Cystic fibrosis foundation history,Org Hub, Retrieved March 22, 2015 from:http://cysticfibrosisfoundation.orghub.net/pages/history.html

Wolter, J., Bowler, S. Nolan, P., McCormack, J. (1997) Home intravenous therapy in Cystic Fibrosis: A prospective randomized trial examining clinical, quality of life and cost aspects, Eur Respiratory J., 10(4):896-900, Retrieved March 31, 2015 from: http://erj.ersjournals.com/content/10/4/896.long