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Response to Quality of Life Surveying:
An Analysis of Patients with WiskottAldrich Syndrome
Tara Bani-Hashemi
MPH Candidate 2017
University of San Francisco
School of Nursing and Health Professional
Agenda
Background
- Wiskott-Aldrich Syndrome
- PedsQL™
- The Wiskott-Aldrich Foundation
Scope of Work
- Personal Objectives
- Agency Objectives
Results
Conclusions
Policy Implications/Physician Responsibility
What is Wiskott-Aldrich Syndrome?
• Abnormal immune system function (immune
deficiency)
• Thrombocytopenia – decrease in platelets
- Platelets help with clotting
- WAS patients easily bruise and bleed after
minor traumas
• Abnormal/nonfunctional white blood cells
- Increased presence/severity of infection
• Immune System Malfunction (cancers)
• Inflammatory disorders (eczema)
Who has Wiskott-Aldrich Syndrome?
• Males (X-linked disorder)
• Females are usually
healthy carriers
Treatment / Management
• HSCT (hematopoietic stem cell transplantation) at
a young age of less than 5 years old
- Donor type (GvHD risk)
• Gene Therapy
- avoid the graft rejection and GvHD barriers
- gene would be corrected using viruses to
integrate the desired gene back into the genome
• Intravenous Ig (IVIG) with prophylactic
antibiotics/penicillin
Background – PedsQL™
• 23 Items in 4 Dimensions:
1.
2.
3.
4.
Physical
Emotional
Social
School/Work
• Summary scores for physical health, psychosocial
health, and overall QOL
- Score 0-100
• Family Impact Module
- Parent QoL
- Family Function
- Worry
The Wiskott-Aldrich Foundation
Mission:
The Wiskott-Aldrich Foundation is dedicated to serving
children with Wiskott-Aldrich Syndrome and their
families worldwide by funding research and providing
educational, financial and emotional support
The Wiskott-Aldrich Foundation
• Inform people of the disease, promote research, and
provide support for WAS families
• Collaborates with families, physicians, researchers,
patients, and charities
• www.wiskott.org
- most current research
- Registries
- financial resources
- support groups
- summer camps
- leading treatment institutions near them
• Creates a community
Scope of Work
The primary goal of the project was to
improve the quality of life for patients
and families of patients diagnosed with
Wiskott-Aldrich Syndrome through raising
awareness of the effects of WAS and
encouragement of questioning QoL through
surveying.
Personal Objectives
• Research past QoL studies and effectiveness
• Familiarize self with PedsQL™
• Understand scoring of QoL surveys
• Maintain IRB consents and QoL surveys through
UCSF IRB
• Administer QoL surveys in various languages when
needed
• Administer QoL surveys to UCSF WAS patients at
cross-sectional visits
• Data entry of QoL results
Agency Objectives
• Improve patient’s quality of life (QoL)
• Share the effects of WAS and treatment options on the
QoL of patients with healthcare professionals and
colleagues
• Encourage the administration of QoL surveys regularly
• Improve QoL surveying to best reflect patient and
family sentiments
• Use QoL as a tool to help families and physicians
assess treatment options
• Use QoL study results to impact other conditions
outside of WAS on a global level
PedsQL™ Scores of Patients with Selected
Diseases
No Identified Chronic Disease
83
Cardiac Disease
81
Diabetes
79
X-Linked Agammaglobulinemia
77
Wiskott-Aldrich Syndrome
76
Humoral PIDD
76
Chronic Graft-vs.-Host Disease
75
Obesity
75
End-Stage Renal Disease
70
Cancer
68
Chronic Granulomatous Disease
65
Cerebral Palsy
51
0
20
40
60
80
100
Preliminary and confidential data from The Wiskott-Aldrich Foundation
PedsQL™ Scores by Domain
120
100
Patients
Parents
80
60
40
20
0
Preliminary and confidential data from The Wiskott-Aldrich Foundation
PedsQL™ Scores by Clinical Factors
Preliminary and confidential data from The Wiskott-Aldrich Foundation
Family Impact Scores in Selected Clinical
Conditions
Acquired Brain Injury
80.4
Disabled
75.1
Late preterm NICU
87.3
Late preterm non-NICU
92.2
Wiskott-Aldrich Syndrome
69
0
20
40
60
80
100
Preliminary and confidential data from The Wiskott-Aldrich Foundation
Panepinto et al., PedsQL™ scores
Panepinto, J. A., Hoffmann, R. G., & Pajewski, N. M. (2009). A psychometric evaluation of
the PedsQL™ Family Impact Module in parents of children with sickle cell disease.
Health and Quality of Life Outcomes, 7(1), 32. doi:10.1186/1477-7525-732
Conclusions
• QOL scores in patients with WAS are decreased to a
level that is considered to be clinically important
• Parents and patients report similar QOL scores across
domains
- Mothers reported lower physical QoL
• Psychosocial QOL scores are lower than physical QOL
scores
• QOL in WAS is similar to QOL in other PIDs and in
chronic GvHD
• QOL scores are significantly higher in patients who
have had an hematopoietic cell transplant compared to
patients who have not had a transplant
Conclusions
These groups are confronted with a rare
condition that can be very isolating, and
a community to understand their family
function and perception of disease can
ultimately improve quality of life and
overall care of patient.
Policy Implications / Physician Responsibility
• QoL surveying addressing psychosocial/emotional
components of care – first visit & annual
• BMT - Protect sleep, pain control, emotional
support, support after BMT
• Incorporate QoL into disease management discussions
- Evaluation patient/parent perception of patient
QoL
- Address parental worry
• Establish Interdisciplinary PID Clinic
- Collaboration between immunologist, hematologist,
BMT, psychiatry, pediatrician, dermatologist
Acknowledgements
• Sumathi Iyengar, MD
• Jim Varni, MD
• Mort Cowan, MD
• Wiskott-Aldrich Foundation
• The PIDTC
• The Primary Immune Deficiency Treatment Consortium (U54-AI082973) is part of Rare
Diseases Clinical Research Network (RDCRN), an initiative of the Office of Rare Diseases
Research (ORDR), National Center for Advancing Translational Sciences (NCATS)
• The PIDTC is funded through collaboration between NCATS-ORDR, and the National Institute
of Allergy and Infectious Diseases
• UCSF Benioff Children’s Hospital
• Immune Deficiency Foundation
Questions?
References
Aspesberro, F., Fesinmeyer, M.D., Zhou, C., Zimmerman, J.J., & Mangione-Smith, R. (2016). Construct validity and responsiveness of the
Pediatric Quality of Life Inventory 4.0 Generic Core Scales and Infant Scales in the PICU. Pediatric Critical Care Medicine, 17(6),
e272-e279.
Bosticardo M et al. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood. 2009; 113: 6288-6295.
Boztug K et al. Stem-cell gene therapy for the Wiskott-Aldrich Syndrome. New Engl J Med. 2010; 363: 1918-1927.
Buchbinder, D., Nugent, D., & Fillipovich, A. (2014). Wiskott–Aldrich syndrome: diagnosis, current management, and emerging
treatments. The Application of Clinical Genetics, 55-64. doi:10.2147/tacg.s58444
Desai, A. D., Zhou, C., Stanford, S., Haaland, W., Varni, J.W., & Mangione-Smith, R.M. (2014). Validity and responsiveness of the
Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales in the pediatric inpatient setting. JAMA Pediatrics, 68,
1114-1121.
Imai K et al. Clinical course of patients with WASP gene mutations. Blood. 2004; 103: 456-464.
Lawitschka, A., Güclü, E.D., Varni, J.W., Putz, M., Wolff, D., Pavletic, S., Greinix, H., Peters, C., & Felder-Puig, R. (2014). Healthrelated quality of life in pediatric patients after allogeneic SCT: Development of the PedsQL™ Stem Cell Transplant Module and
results of a pilot study. Bone Marrow Transplantation, 49, 1093–1097.
Notarangelo, LD, Miao CH, Ochs HD, Wiskott-Aldrich syndrome. Curr Opin Hematol, 2008; 15: 30-36.
References continued
Nuss, S. L., & Wilson, M. E. (2007). Health-Related Quality of Life Following Hematopoietic Stem Cell Transplant During Childhood. Journal of
Pediatric Oncology Nursing, 24(2), 106-115. doi:10.1177/1043454206296033
Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol. 2005; 12: 284-291.
Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol, 2006. 117: 725-738; quiz 739.
Panepinto, J. A., Hoffmann, R. G., & Pajewski, N. M. (2009). A psychometric evaluation of the PedsQL™ Family Impact Module in parents of children
with sickle cell disease. Health and Quality of Life Outcomes, 7(1), 32. doi:10.1186/1477-7525-7-32
Sullivan KE, et al., A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994; 125: 876-85.
Switzer, G.E., Bruce, J., Kiefer, D.M., Kobusingye, H., Drexler, R., Besser, R.M., Confer, D.L., Horowitz, M.M., King, R.J., Shaw, B., van Walraven,
S.M., Wiener, L., Packman, W., Varni, J.W., & Pulsipher, M.A. (in press). Health-related quality of life among pediatric hematopoietic stem
cell donors. Journal of Pediatrics.
Varni, J.W., Bendo, C.B., Shulman, R.J., Self, M.M., Nurko, S., Franciosi, J.P., Saps, M., Saeed, S., Zacur, G.M., Dark, C.V., & Pohl, J.F. (2015).
Interpretability of the PedsQL™ Gastrointestinal Symptoms Scales and Gastrointestinal Worry Scales in pediatric patients with functional and
organic gastrointestinal diseases. Journal of Pediatric Psychology, 40, 591-601.
Varni, J.W., Franciosi, J.P., Shulman, R.J., Saeed, S., Nurko, S., Neigut, D.A., Bendo, C.B., Patel, A.S., Self, M.M., Saps, M., Zacur, G.M., Denham, J.,
Dark, C.V., & Pohl, J.F. (2015). PedsQL™ Gastrointestinal Symptoms Scales and Gastrointestinal Worry Scales in pediatric patients with
Inflammatory bowel disease in comparison to healthy controls. Inflammatory Bowel Diseases, 21, 1115-1124.
Varni, J.W., Limbers, C.A., Neighbors, K., Schulz, K., Lieu, J.E.C., Heffer, R.W., Tuzinkiewicz, K., Mangione-Smith, R., Zimmerman, J.J., & Alonso,
E.M. (2011). The PedsQL™ Infant Scales: Feasibility, internal consistency reliability and validity in healthy and ill infants. Quality of Life
Research, 20, 45-55.
Zhang, H., Wang, L., Quan, M., Huang, J., Wu, P., Lu, Q., & Fang, Y. (in press). Health-related quality of life in children with chronic immune
thrombocytopenia in China. Health and Quality of Life Outcomes.