Orphan drugs and rare diseases

Cognitive debriefing of the Barth Syndrome – Symptom Assessment (BTHS-SA)
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C.
Poster presented at the 9th International Scientific, Medical, & Family Conference Meeting of the Barth Syndrome Foundation, Clearwater, FL, USA, July 16-21 2018

Exploring the sign and symptom experience of Barth syndrome in adult and adolescent populations
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C.
Poster presented at the 9th International Scientific, Medical, & Family Conference Meeting of the Barth Syndrome Foundation, Clearwater, FL, USA, July 16-21 2018

Understanding the life experience of Barth syndrome from the perspective of older individuals
Stokes J, Mazar I, Ollis S. Love E, Espensen A, Shields AL.
Poster presented at the 9th International Scientific, Medical, & Family Conference Meeting of the Barth Syndrome Foundation, Clearwater, FL, USA, July 16-21 2018

Psychometric evaluation of questionnaires assessing injection regimen burden in growth hormone deficient (GHD) adults and children treated with growth hormone
Turner-Bowker DM, Yaworsky A, Palladino A, Pleil A, Shields A, Kelly M, Lamoureux RE, Love E, Morrissey L, Loftus J.
Poster presented at the International Society for Pharmacoeconomics and Outcomes Research 23rd International Meeting, Baltimore MD, USA 19-23 May 2018

Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale
Mayhew J, Bonner N, Arbuckle R, Turnbull A, Bowden A, Skrinar A.
Journal of Comparative Effectiveness Research. 2018; 7(4):381-395

Understanding the functional impact of movement disorders in glucose transporter type 1 seficiency syndrome (Glut1 DS)
Bowden A, Collins P, Blair S. Wedsock K, Haller M, Brandabur M, Hall R, Kilgariff S, Arbuckle R, Mayhew J, Skrinar A.
13th International Congress of Inborn Errors. Rio de Janiero, Brazil, 5-8 September, 2017

The functional impact of movement disorders symptoms in glucose transporter type 1 deficiency syndrome (Glut1 DS)
Bowden A, Kilgariff S, Hall R, Brandabur M, Collins P.
Poster presented at: 5th International Symposium on Paediatric Movement Disorders, Barcelon, Spain, 2-3rd February

Characterization of patients with galactosialidosis and sialidosis type 1
Cimms T, Ali Q A, Kilgariff S, Johnson C, Arbuckle R, Malkus B, Schatz A, Haller C.
Poster presentation at the 13th International Congress of Inborn Errors, 5-8 September 2017

Development of a paroxysmal movement disorder diary for patients with glucose transporter type 1 deficiency syndrome (Glut1 DS)
Hall R, Kilgariff S, Collins P, Brandabur M, Arbuckle R, Bowden A.
21st International Congress of Parkinson’s Disease & Movement Disorder, June 4-8, 2017 in Vancouver, BC

Psychometric validation of a patient-reported outcome questionnaire in patients with pancreatic exocrine insufficiency
Johnson C, Williamson N, Janssen-van Solingen G, Arbuckle R, Johnson C, Simpson S, Staab D, Dominguez-Munoz E, Levy P, Connett G, Lerch M.
Poster presented at the 49th Meeting of the European Pancreatic Club (EPC), 28 June 2017

Qualitative assessment of the symptoms and impact of pancreatic exocrine insufficiency (PEI) to inform the development of a patient-reported outcome (PRO) instrument
Johnson C D, Arbuckle R, Bonner N, Connett G, Dominguez-Munoz E, Levy P, Staab D, Williamson N, Lerch M M.
Patient. 2017; 10(5): 615–628

Saturation of sign and symptom concepts in concept elicitation studies with rare disease and vulnerable patient populations
Mazar I, Stokes J, Shields AL.
Poster presented at the 22nd Annual International Meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Boston, MA USA, 20-24 May 2017

Initiatives that impact pricing and reimbursement of orphan (and ultra orphan) drugs: Review of European trends
Rousseau B, Poinas AC, Oliver L, Collings H.
Poster presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR), 20th Annual European Congress, Glasgow, Scotland, 4-8 November 2017

Cognitive debriefing of the Primary Mitochondrial Myopathy – Symptom Assessment (PMM-SA)
Stokes J, Covino J, Aiudi A, Mazar I, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C.
Oral presentation at the 19th Annual Conference of the United Mitochondrial Disease Foundation (June 28 – July 1 2017); Alexandria, VA USA

Exploring the sign and symptom experience of Barth syndrome in adult and adolescent populations
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C.
22nd Annual International Meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Boston, MA USA, 20-24 May 2017

Exploring and documenting the signs, symptoms, and impacts of primary mitochondrial disease
Stokes J, Covino J, Aiudi A, Mazar I, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C.
Poster presented at the 22nd Annual International Meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Boston, MA USA, 20-24 May 2017

Cognitive debriefing of the Advanced Systemic Mastocytosis Symptom Assessment Form (advSM-SAF)
Taylor F, Kreil S, Reiter A, Horny HP, Evans E, Mazar I, McNamara P, Boral A, Lamoureux RE, Shields A, Gotlib J.
Poster session presented at the 22nd Annual International Meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Boston, MA USA, 20-24 May 2017

Qualitative research to explore the patient experience of X-Linked Hypophosphataemia (XLH) and to evaluate the content validity of the BPI-SF and WOMAC® for use as clinical trial endpoints
Theodore-Oklota C, Arbuckle R, Bonner N, Spencer H.
Poster presented at the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), 22nd Annual International Meeting, Boston, MA USA, 20-24 May 2017

Qualitative research to explore the pediatric patient experience of X-Linked Hypophosphataemia (XLH) and to evaluate the content validity of PROMIS® item banks, FPS-R® and POSNA-PODCI for use as clinical trial endpoints
Theodore-Oklota C, Arbuckle R, Marshall C, Spencer H.
10th International Meeting of Pediatric Endocrinology, Washington DC, USA, 14-17 September, 2017

Psychometric evaluation of the Brief Pain Inventory – Short Form (BPI-SF) and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC®) for use in X-Linked Hypophosphataemia (XLH), a rare genetic disorder
Theodore-Oklota C, Brohan E, Marshall C, Tritton T.
Poster presented at the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), 22nd Annual International Meeting, Boston, MA USA, 20-24 May 2017

Techniques for the psychometric evaluation of clinical outcome assessment (COA) measures used in rare disease
Turner-Bowker DM, Sen R, Morrissey L, Kelly M, Severson K, Litcher-Kelly L.
24th Annual Conference of the International Society for Quality of Life Research (ISOQOL). Philadelphia, PA 2017

Content validity of questionnaires assessing injection regimen burden in growth hormone deficient (GHD) adults and children treated with growth hormone
Turner-Bowker DM, Shields A, Yaworsky A, Lamoureux R, Morrissey L, Kelly M, Love E, Pleil A, Hart G, Hershkovitz O, Loftus J.
Poster session presented at the ISPOR 22nd Annual International Meeting, Boston, MA USA, 20-24 May 2017

Qualitative research to explore the patient experience of X-Linked Hypophosphatemia and evaluate the suitability of the BPI-SF and WOMAC® as clinical trial endpoints
Theodore-Oklota C, Bonner N, Spencer H, Arbuckle R, Chen C-Y, Skrinar A.
Value in Health (accepted for publication)

Challenges and solutions associated with patient-centered outcomes in rare diseases
Bonner N, Panter C, Spencer H, Braid J, Bennett B.
Poster presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR), 21st Annual International Meeting, Washington DC, USA, 21-25 May 2016

Development and content validity of the advanced systemic mastocytosis symptom assessment form (ADVSM-SAF)
Mazar I, Evans E, Taylor F, Patki A, Ojo O, Lamoureux RE, Horny H, Reiter A, Gotlib J, Shields A.
Poster presented at International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Vienna, Austria, 29th Oct-2nd Nov 2016

Responder analyses of droxidopa in patients with symptomatic neurogenic orthostatic hypotension
Rowse GJ, Hewitt A, Shields AL, Freeman R, Kaufmann H.
Poster presented at the 68th annual meeting of The American Academy of Neurology Annual Meeting in Vancouver, Canada

Towards a composite clinical endpoint: Identifying a core set of patient and caregiver relevant outcome measures through qualitative research on the global impact of Dravet syndrome
Nabbout R, Auvin S, Chiron C, Irwin J, Mistry A, Williamson N.
Poster presented at: European Congress on Epileptology, Prague 2016

Responder analyses of droxidopa in patients with symptomatic neurogenic orthostatic hypotension
Rowse GJ, Hewitt A, Shields AL, Freeman R, Kaufmann H.
Movement Disorders. 30(10):e7, SEP 2015

Development and content validity testing of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies
Bonner N, Abetz-Webb L, Renault L, Caballero T, Longhurst H, Maurer M, Christiansen S, Zuraw B and for the Icatibant Outcome Survey (IOS) International Executive Committee and the Hereditary Angioedema Association (HAEA) Medical Advisory Board.
Health Qual Life Outcomes. 2015, 13:92

Development of a patient-reported outcome measure in pancreatic exocrine insufficiency (PEI)
Johnson C, Arbuckle R, Nonner N, Connet G, Dominguez-Munoz E, Haeusler J, Levy P, Platon J, Schifflers M, Staab D, Williamson N, Lerch M.
Poster presented at: European Pancreatic Club, Spain, June 2015

Development of evidence packages for regulatory and reimbursement submissions in rare diseases: real-world examples
Bonner N, Bowden A, Bal V, Kilburg A.
Workshop presented at: 18th Annual European Congress of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Milan, Italy, 7-11 November 2015

Development of patient-centered outcomes in rare diseases
Bonner N, MacCulloch A, Bennett B.
Poster session presented at: World Orphan Drug Congress, Geneva, Switzerland, 11-13 November 2015

Qualitative research to better understand the experience of Pancreatic Exocrine Insufficiency (PEI) symptoms from the patient perspective
Bonner N, Tolley C, Williamson N, Arbuckle R, Platon J, Haeusler J, Schifflers M.
Poster presented at European Pancreatic Club, Southampton, June 2014

The effect of ruxolitinib therapy on myelofibrosis-related symptoms and other patient-reported outcomes in COMFORT-I: a randomized, double-blind, placebo-controlled trial
Mesa RA, Gotlib J, Gupta V, Catalano JV, Deininger MW, Shields AL, Miller CB, Silver RT, Talpaz M, Winton EF, Harvey JH, Hare T, Erickson-Viitanen S, Sun S, Sandor V, Levy RS, Kantarjian MN, and Verstovsek S on behalf of all COMFORT-I Investigators.
Journal of Clinical Oncology, 31(10), 1285-1292. 2013

Use of the functional assessment of cancer therapy-anemia (FACT-AN) instrument in persons with MPN-associated myelofibrosis and anemia
Hudgens S, Gale RP, Tencer T, Khan Z.
Poster session presented at: International Society for Pharmacoeconomics and Outcomes Research (ISPOR), 18th International Meeting, New Orleans, USA, 20-22 May 2013

The progressive burden of myelofibrosis in untreated patients: an assessment of patient-reported outcomes in patients randomized to placebo in the COMFORT-I study
Mesa RA, Shields AL, Hare T, Erickson-Viitanen S, Sun W, Sarlis NJ, Sandor V, Levy RS, Verstovsek S.
Leukemia Research, 37(8), 911-916. 2013

Development and validation of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies
Bonner N, Abetz L, Renault L, Caballero T.
Value Health 2012;15:A558

Development and validation of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies
Bonner N, Abetz L, Renault L, Caballero T.
Poster presented at the 15th Annual European Congress of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Berlin, Germany, 2012

Gaining reimbursement of orphan products in Europe: Challenges due to wide variations in evidence requirements and processes
Heron L, Laurenson S, Costello J, Anderl C, Knospe J.
Value Health 2012;15:A308

Gaining reimbursement of orphan products in Europe: challenges due to wide variations in evidence requirements and processes
Heron L, Laurenson S, Costello J, Anderl C, Knospe J.
Poster presented at the 15th Annual European Congress of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Berlin, Germany, 2012

Listening to children’s and parents’ voices: using patient-reported outcomes to empower patients with orphan diseases and their parents
Abetz-Webb A, Arbuckle R.
Workshop presented at: 6th European Conference on Rare Diseases & Orphan Products, Brussels, Berlin, 23–25 May 2012

Progressive worsening of patient-reported outcomes in untreated patients with myelofibrosis
Mesa R, Shields AL, Hare T, Erickson-Viitanen S, Sun W, Verstovsek S.
Poster presented at the 17th annual international meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Washington DC, USA, 2012

The progressive burden of myelofibrosis (MF) in untreated patients: An assessment of patient reported outcomes in placebo-treated patients from COMFORT-1
Mesa R, Shields AL, Hare T, Erickson-Viitanen S, Sun W, Verstovsek S.
Poster presented at the 17th Congress of the European Hematology Association (EHA). Amsterdam, Netherlands, 2012

Use of the Functional Assessment of Cancer Therapy-Anemia (FACT-AN) instrument in persons with MPN-associated myelofibrosis and anemia
Hudgens S, Gale RP, Tencer T, Khan Z.
Poster session presented at: International Society for Pharmacoeconomics and Outcomes Research, 17th Annual International Meeting, Washington, USA, 2-6 June 2012

Associations between improvements in Myelofibrosis (MF) symptoms and quality of life measures with splenomegaly reduction in COMFORT-I: A randomized, double-blind, phase III trial of the JAK1 and JAK2 inhibitor ruxolitinib versus placebo in patients with MF
Mesa RA, Gotlib J, Gupta V, DiPersio J, Catalano J, Deininger M, Shields AL, Miller C, Silver R, Talpaz M, Winton E, Harvey J, Hare T, Erickson-Viitanen S, Sun W, Sandor V, Levy R, Kantarjian H, and Verstovsek S on behalf of all COMFORT-I Investigators.
Poster presented at the 53rd annual meeting of the American Society of Hematology. San Diego, CA, USA, 10-13 December 2011

Results using the modified Myelofibrosis Symptom Assessment Form (MFSAF v2.0) in COMFORT I: a randomized, double-blind phase III trial of JAK1/2 inhibitor ruxolitinib vs. placebo for patients with myelofibrosis (MF)
Mesa RA, Kantarjian H, Shields AL, Gotlib JR, Gupta V et al. on behalf of all COMFORT-1 investigators.
Poster presented at the 16th Congress of the European Hematology Association. London, England, 9-12 June 2011