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Registry
Annual Data Report
2013
Preston W.
Campbell, III, MD
Thanks to steady progress in CF care and treatment, the face of the disease has changed
dramatically over the last few decades. We are now on the cusp of an important milestone,
when more than half of those with CF in the United States will be 18 years and older, and
we anticipate continued growth in the adult CF population in the years to come.
Positive trends shown in this years report include:
Continued improvements in pulmonary function and nutritional status
Increase in the number of new CF diagnoses through newborn screening
Decrease in lung infections from Pseudomonas aeruginosa and MRSA
Bruce C.
Marshall, MD
The data also show that much work remains in order for all people with CF to be better
able to lead healthy and fulfilling lives. Many people with CF still require hospitalization for
treatment of exacerbations and, as the CF population ages, many now face other health
problems like CF-related diabetes and depression, which add to the daily demands of
living with this disease. We remain committed to addressing these challenges.
This year, we have used more graphics to summarize the data and convey more fully the
impact that CF has on those living with the disease. We hope this report encourages
people with CF to partner with their care center teams and take an active role in shaping
an individualized care plan to stay healthy and thrive.
We are deeply grateful to all who have contributed to this report, especially people with
CF and their families who so generously agree to share their information.
Thank you for your continued commitment to our mission to cure CF.
Sincerely,
Bruce C. Marshall, MD
Senior Vice President
Clinical Affairs
1
Table of Contents
28,000
66%
of new CF diagnoses
were made in the
first year of life.
40.7
years in 2013.
people with CF
were 40 years or older.
nutrition
and
pulmonary
health outcomes in
children and adults.
46%
22%
were students.
Diagnosis of CF 8
Sweat Test Data 9
CF Genetics 10
CF Clinical Care Practice Guidelines: Care, Screening and Prevention 12
Microbiology 13
Growth and Nutrition 14
Lung Health 16
Sweat testing
Demographics 6
Pseudomonas
2,697
Complications 19
97%
Transplantation 21
Survival 22
Resources 23
Each year, information on the health status of children and adults with CF who
receive care at CF Foundation-accredited care centers is entered into the Registry.
This information provides critical data to help care teams and researchers identify new
health trends, recognize the most effective treatments, design CF clinical trials and
develop clinical care practice guidelines.
respiratory
therapist
social
program
worker
coordinator
physician
dietitian
FRAMEWORK FOR
CLINICAL TRIALS
Track progress
in curing CF and
the impact of
treatments
Test promising
new therapies
RT
nurse
DISEASE
SURVEILLANCE
physical
research
therapist
coordinator
psychologist
pharmacist
POST-MARKETING
SURVEILLANCE
STUDIES
QUALITY
IMPROVEMENT
COMPARATIVE
EFFECTIVENESS
RESEARCH
Ensure safety
and effectiveness
of approved
products
Provide
all patients
with
high-quality care
Promote
evidence-based
clinical
decision making
In 2013,
25%
of people
with CF
participated in a
patient assistance
program through
CFF or another
source.
Through its quality improvement initiative, the CF Foundation works closely with
care centers to ensure all people with CF receive the highest quality of care. The
quality improvement initiative is aimed at identifying best practices for CF care and
treatment, and providing training and tools to implement improvements across the
care center network. People with CF and their families are important partners in this
process.
4
46%
work
full time or
part time
and
22%
are students.
People with CF are living longer and healthier lives than ever before. Today, nearly
half of all people with CF in the United States are adults. We project that survival will
continue to improve over the next decade and beyond.
Education
Marital Status
Employment
Retired
1.6%
618
125
236
74
118
407
183
592
180
649
113
1,743
1,063
54
392
189
1,047
373
678
262
261
138
Single
54.0%
Unemployed
8.2%
Full Time
34.3%
Student
22.0%
Widowed
0.2%
883
Disabled
17.6%
Homemaker
4.3%
College
Graduate
29.2%
570
667
402
Some
College
33.7%
Married/
Living
Together
40.9%
38
667
717
Less Than
High School
6.8%
Masters/
Doctoral-Level
Degree
6.4%
99
538
68
1,523
552
366
284
385
1,659
246
2,332
914
High School
Diploma
23.8%
Part
Time
12.0%
Separated/
Divorced
4.9%
381
261
217
444
782
0 99
1,744
319
100 199
200 499
1,434
65
500 999
30,000
1,000
25,000
18
African American
4.3%
White
86.8%
Number of Patients
16
20,000
15,000
10,000
5,000
or older
0
86 87 88 89 90 91 92 93 94 95 96 97 98 99 00 01 02 03 04 05 06 07 08 09 10 11 12 13
Year
Hispanic 7.9%
Other 1%
1986
29.2%
6
2013
49.7%
7
Diagnosis of CF
Nationwide newborn screening for CF has been in place since 2010. As a result, more
people with CF are now diagnosed in infancy, often before symptoms of the disease
appear. While a growing proportion of people with CF are diagnosed by newborn
screening, some are not diagnosed until adolescence or adulthood. Early diagnosis
allows for earlier treatment, which may lead to better lung function and nutritional
outcomes later in life.
60%
In 2013,
of new
diagnoses were detected
by newborn screening.
Percent of Patients with Sweat Chloride Values Reported by Year of Diagnosis, 1986-2013
Percent of Patients
90
80
70
Under
1 Year,
65.7%
60
1988
1993
1998
1 to 3 Months, 13.2%
F508del Homozygotes
4 to 6 Months, 12.2%
Year
2003
2008
2013
Other
7 to 11 Months, 9.0%
1 Year Old, 6.6%
Percent of
newly diagnosed
people with CF
with sweat values
recorded.
1993
2003
2013
97 82 75
100
80
Percent
60
40
20
0
90 91 92 93 94 95 96 97 98 99 00 01 02 03 04 05 06 07 08 09 10 11 12 13
Year
CF Genetics
In people with CF, mutations in both copies of the cystic fibrosis transmembrane
conductance regulator (CFTR) gene disrupt normal production of the CFTR protein.
Different mutations cause CFTR to malfunction in different ways. In some people with CF,
little to no CFTR is produced. In others, the defective protein is produced, but cannot
move to the surface of the cell where it is needed to regulate the transfer of chloride
and water in and out of cells. In others, CFTR is produced and moves to the surface
of the cell but the gate that controls chloride movement does not open properly. The
malfunctioning CFTR leads to an accumulation of unusually thick and sticky mucus in the
lungs, pancreas and other organs.
Today, as new therapies are developed to target problems caused by specific
CF mutations, it is extremely important for each person with CF to know his or
her mutations. There are more than 1,500 known CFTR mutations, many of which
researchers have categorized into different groups. People with two mutations in
classes I, II and III typically exhibit more severe pulmonary disease and pancreatic
insufficiency as compared to people with at least one mutation in classes IV and V.
CFTR Mutation Classes
The chart below shows just one of the ways that researchers classify CFTR mutations. Individuals with CF
can consult with a genetic counselor or other member of their care team to learn more about their specific
mutations. To find more information on CFTR and mutation classes, visit www.cftr2.org.
Cl Cl -
Cl -
Cl Cl -
Cl -
Cl -
EXAMPLES
DESCRIPTION
NUMBER OF PEOPLE
F508del
23,478
86.4
G542X
1,252
4.6
G551D
1,182
4.4
R117H
767
2.8
N1303K
672
2.5
W1282X
625
2.3
R553X
493
1.8
621+1G->T
437
1.6
1717-1G->A
425
1.6
3849+10kbC->T
411
1.5
2789+5G->A
369
1.4
3120+1G->A
267
1.0
I507del
220
0.8
D1152H
196
0.7
R1162X
193
0.7
3659delC
189
0.7
1898+1G->A
187
0.7
G85E
178
0.7
R560T
165
0.6
R347P
158
0.6
2184insA
151
0.6
R334W
145
0.5
A455E
142
0.5
Q493X
129
0.5
2184delA
116
0.4
MUTATION
Cl -
Cl -
Cl -
XX
Normal
Class I
Class II
Class III
Class IV
Class V
CFTR is created,
reaches cell
surface and
functions properly,
allowing transfer
of chloride and water.
No
functional
CFTR
created.
CFTR protein
is created,
but misfolded,
keeping it from
reaching the
cell surface.
CFTR protein
is created and
reaches cell
surface, but
does not
function properly.
The opening
in the CFTR
protein ion
channel
is faulty.
CFTR
is created
in insufficient
quantities.
G542X
W1282X
R553X
F508del
N1303K
I507del
G551D
S549N
V520F
R117H
D1152H
R347P
3849+10kbC->T
2789+5G->A
A455E
97%
of people
with CF
had their
mutations
identified
through
genetic
testing.
10
11
Microbiology
CF clinical care practice guidelines are developed by expert multidisciplinary committees, based
on published evidence and clinical experience. Guidelines are intended to inform care centers
about CF care and treatment best practices and to be adapted by care center teams to the
needs, preferences and values of the individual with CF and his or her family.
Pulmonary infections are a serious and chronic problem for many living with CF. People
with CF are at greater risk of getting lung infections because the thick and sticky mucus
that accumulates in their lungs allows germs to thrive and multiply. The prevalence of
the bacteria, Pseudomonas aeruginosa or Pseudomonas has been gradually decreasing
over time in people with CF. Prevalence of nontuberculous mycobacteria (NTM)
infections is increasing in the general population. This is of concern because people
with CF are at a higher risk of developing NTM infections which require long periods of
treatment with multiple antibiotics.
Current CF Foundation clinical care practice guidelines recommend that individuals ages 6 and
older visit their care center at least four times, receive four microbiological cultures and perform
two pulmonary function tests (PFTs) per year. There are other annual guidelines for CF care,
some of which are listed below.
To help reduce the spread of germs, the infection prevention and control guidelines
for CF were created. These CF Foundation guidelines provide recommendations for
people with CF, their families and CF health care professionals to help reduce the
spread of germs in the clinic and hospital setting, and at home, school or work.
4
clinic visits
4
cultures
2
PFTs
The majority of people with CF followed in the Registry receive care as recommended by
the Guidelines; however, adults with CF do not receive guideline-recommended care to the
same extent as children. There are various possible reasons for this difference. Teens and
adults may be busy with school or jobs, and some may have milder disease.
UNDER
18 YEARS
18 YEARS
AND OLDER
ALL
74
56
65
ELIGIBILITY CRITERIA
FOR RECOMMENDATION
Prevalence
of Respiratory Microorganisms, 19882013
80
S. aureus
S.
aureus
60
Percent of Patients
P. aeruginosa
P.
aeruginosa
MRSA
40
MDR-PA
MDR-PA
H. influenzae
Influenzae
S. maltophilia
maltophilia
20
A. xylosoxidans
Achromobacter
All
B.cepacia
B.
cepacia
complex
0
4 or more sputum/throat cultures
63
40
52
All
91
87
89
96
93
95
90
80
85
All
50
29
37
84
76
80
All
12
88 89 90 91 92 93 94 95 96 97 98 99 00 01 02 03 04 05 06 07 08 09 10 11 12 13
Year
8%
16%
Percent of
people with CF
tested between
2010 and 2013
who had
NTM infections
13
BMI
Body mass index (BMI)
is based on a persons
weight and height. BMI is
calculated by dividing body weight
in kilograms (kg) by the persons
height in meters squared (m2).
22
BMI
Better nutrition is associated with better lung function in people with CF. This
association suggests that maintaining a healthy weight is important not only to
nutrition and growth, but to lung function as well. This association is especially
important for infants whose length and weight can be measured, but who cannot
perform lung function tests.
21
20
Median Nutritional Outcome Percentiles for Children and Adolescents Ages 2 to 19 years, 1986-2013
19
1988
1993
1998
2003
2008
2013
Years
60
20 Year Olds
25 Year Olds
30 Year Olds
35 Year Olds
Percentile
50
40
30
BMI Percentile
20
10
BMI
Weight
Height
0
86
89
92
95
98
Year
87%
of people with CF take
pancreatic enzyme
supplements.
14
01
04
07
10
13
BMI percentile
matches a childs BMI to other
children in the United States
of the same age and gender.
A BMI of the 50th percentile
means half of the children of the
same age and gender are larger
and half are smaller.
2013
20% 6%
Percentage of people with CF
with a BMI less than 18.
1993
2013
20% 7%
15
Lung Health
Median FEV1 Percent Predicted in 1993 and 2013
Pulmonary function in individuals with CF has improved over time, but the
pattern of decreasing pulmonary function beginning in adolescence persists.
Research shows that people with CF of all ages, including infants, have some
lung damage even when FEV1 percent predicted is within the normal
range. This damage to the lungs is primarily the result of mucus buildup and
lung infections.
To keep their lungs healthy, people with CF must take a number of drugs.
Most pulmonary medications recommended by CF care providers are widely
used by people with CF. However, medications alone cannot keep CF lungs
healthy, and people with CF also use various airway clearance techniques
(ACTs), including exercise, to help move mucus out of the lungs.
Despite notable improvements in pulmonary function and nutritional status
over the past two decades, a significant proportion of people with CF in the
Registry are still treated with IV antibiotics for pulmonary exacerbations.
FEV1
Percent
Predicted
FEV1 is a measure of lung
function. It is the forced
exhaled volume of air
in the first second of an
exhaled breath. It is shown
as a percent predicted,
based on the FEV1 of
healthy, non-smoking
people of the same age,
height and gender.
85
95
62
83
1993
2013
1993
2013
0
100
90
25
75
80
70
60
50
40
30
6 Year Olds
1998
11
Year
Olds
Years
2003
16 Year Olds
2008
21
Year
Olds
2013
26
Year
Olds
Percent of Patients
Percent of Patients
100
stneiof
taPPatients
fo tnecreP
Percent
Percent
of Patients
FEVP1ercent
Percent
Predicted
FEV1
Predicted
100
1993
75
75
100 24.1
37.3
24.1
24.1 38.6
50
75
38.6
50
50
50
38.6 38.6
25 38.6
50
37.3
75
25
25
0
25
37.3
24.1 1988
37.3 37.3
1000
Median
1 Percent
FEV1988
1988 1988
16
1998 14.2
23.4
9.6
2003
5.5
2008
5.5
Median
Predicted
18 Olds,
Year9.6Olds,
1988-2013
27.8
Median
FEV1 FEV
Percent
Predicted
in 18 in
Year
1988-2013
1 Percent
1988
24.1
1993
14.2
23.4
34.8
14.214.2
23.4
42.1
23.4 34.5
34.8
34.5
34.834.8
34.5
51.0
42.1
34.8
51.0
42.1
51.0
51.01998
1993
23.4
42.1 42.1
1993
Predicted
1993 1993
9.69.6
5.5
5.5
27.8
7.2
7.2
21.0
27.8
27.8
21.0
21.0
56.8
33.7
33.7
66.6
66.6
34.5 34.5
14.2
in
1998
18
Year
19981998
21.0
7.2
33.7
33.7
51.0
7.2
2013
71.9
71.9
71.9
56.8
33.7
56.8
56.8
2003
9.6
66.6
66.6
27.8
2008
5.5
2003
2008
Olds,
1988-2013
2003
2003
2008
2008
56.8
66.6
FEV1Normal/Mild
Moderate (40%
to 69%)
(>
_70%)
FEV1
Moderate
(40%
Severe
(<40%)
FEV1
Moderate
(40%toto69%)
69%)
FEV1
Normal/Mild
(70%)
FEV1 Normal/Mild (70%)
71.9
71.9
21.0
2013
7.2
2013
2013
2013
17
Complications
Lung Health
Percentage (%) of People Prescribed CF Medications
CRITERIA FOR
PRESCRIBING MEDICATION
2012
2013
Dornase alfa
(Pulmozyme)
84
85
Hypertonic saline
61
63
66
63
42
Azithromycin
(such as Zithromax)
Ivacaftor (Kalydeco)
39
71
78
69
87
Detecting complications early and managing them properly is crucial for the health
and well-being of those with CF. Complications of CF include cystic fibrosis-related
diabetes (CFRD), liver disease, bone disease, distal intestinal obstructive syndrome
(DIOS), gastroesophageal reflux disease (GERD) and depression.
35%
of people
with CF were
treated with
IV antibiotics
for pulmonary
exacerbations
in 2013.
40
Percent of Patients
RECOMMENDED CHRONIC
MEDICATIONS FOR LUNG HEALTH
CF is often associated with complications other than lung disease and impaired
nutritional status. These complications can be a direct result of the disease or a
result of treatments for CF.
30
20
10
<6
6 to 10
Arthritis/Arthropathy
11 to 17
18 to 24
Age (Years)
Bone Disease
25 to 34
CFRD
35 to 44
Depression
Pulmonary
exacerbation
Exercise
4.9%
3.0%
3.0%None
71.7%
HFCWO
(vest)
8.9% PEP/OscPEP
10.5%
Postural Drainage
A pulmonary exacerbation
refers to a period of
time when IV antibiotics
are administered either
during a hospitalization
or via home IV therapy in
response to worsening
signs and symptoms of
lung disease.
35%
of people
with CF age
18 years and
older have
CFRD.
1.0%
1.0%Forced Expiration
18
19
Complications
Transplantation
4,657
In 2013,
245
people with CF
received a
lung transplant.
The Registry also collects data on people with CF who have had other
types of transplants, and there were 135 people with CF followed who
received a kidney, heart or liver transplant in 2013 or in a prior year.
The median
age of
recipients
was
years.
people with CF
used insulin
in 2013.
31
200
40
35
30
150
100
25
20
50
15
10
0
90
91
92
93
94
95
96
97
98
99
00
01 02
Year
03
04
05
06
07
08
09
10
11
12
13
0
1988
1993
1998
2003
2008
2013
Year
Patients 10 to 17 Years
20
21
Appendix of Resources
Survival
People with CF are living longer than ever before with the median predicted
survival age continuing to increase.
Median
Predicted
Survival Age
40
36
32
28
24
19891993
1989 - 1993
19941998
1994
- 1998
19992003
1999
- 2003
20042008
2004
- 2008
20092013
2009
- 2013
Year
40.7
years
Median
predicted
survival age
in 2013.
CF Genetics
About CF Genetics
www.cff.org/AboutCF/Testing/Genetics
CF Care Guidelines
www.cff.org/treatments/CFCareGuidelines
Quality Improvement Initiative
Improve Your CF Care
www.cff.org/LivingWithCF/QualityImprovement/
ImproveYourCare/
Quality Improvement
www.cff.org/LivingWithCF/Webcasts/ArchivedWebcasts/
PartneringCare/#Partnering_for_Improvement
www.cff.org/LivingWithCF/QualityImprovement
Genetics-Related CF Webcasts
www.cff.org/LivingWithCF/Webcasts/ArchivedWebcasts/
Genetics/
Types of CF Mutations
www.cff.org/AboutCF/Testing/Genetics/CFMutations/
Microbiology
Additional Clinical Initiatives: Burkholderia cepacia,
Methicillin-resistant Staphylococcus aureus (MRSA) and
Nontuberculous Mycobacteria (NTM)
www.cff.org/research/DrugDevelopmentPipeline/
AdditionalClinicalInitiatives
Demographics
Diagnosis of CF
CF Care Guidelines Age Specific Care
www.cff.org/treatments/CFCareGuidelines/
AgeSpecificCare
CF Infant Care: First Year of Life
www.cff.org/LivingWithCF/StayingHealthy/CFInfantCare
22
23
Complications
24
SOURCE OF DATA
Cystic fibrosis patients under care at CF Foundation-accredited
care centers in the United States, who consented to have their
data entered in 2013.
SUGGESTED CITATION
Cystic Fibrosis Foundation Patient Registry
2013 Annual Data Report
Bethesda, Maryland
2014 Cystic Fibrosis Foundation
COVER PHOTO BY
Cade Martin Photography