publications

Working in collaboration with our sponsors, clinical experts, and patient groups, we distill the data from our studies into compelling publications in peer-reviewed journals and conference posters.

Take a look at our publications archive to see how our work amplifies the voices of our study participants.

ALSP

Beta-thalassemia

Charcot-Marie-Tooth

Cystic fibrosis

Melanoma

Myasthenia Gravis

ALSP

Beta-thalassemia

Charcot-Marie-Tooth

Cystic fibrosis

Melanoma

Myasthenia Gravis

Alopecia areata: targeted review of adverse events associated with clinical studies of treatments

Alsawady M, Borecka O, Llewellyn S (ISPOR US, 2023)

“Cash or credit?” Feedback from patients on the use of reward programs in digital research

Alsawady M, Amini F, Vincent S, Llewellyn S (ISPOR US, 2023)

Effectiveness of prostate cancer screening in reducing adult mortality: a quasi-systematic review

Llewellyn S (ISPOR US, 2023)

The Past, Present, and Future of Sickle-cell Disease Registries: Findings from a Global Review

Llewellyn S, Amini F, Borecka O, Ofori A (Pharma Focus Asia, 2023)

MANUSCRIPT: Sickle cell disease: a global patient registry review

Borecka O, Ofori A, Amini F, Llewellyn S (Future Rare Diseases, 2022)

Challenges in presenting engagement statistics in real-world digital studies

Day L, Lau J, Quinn C (ISPOR EU, 2022)

“Please complete your surveys”: a targeted review of adherence rates in real-world studies using digital technologies

Borecka O, Ofori A, Llewellyn S (ISPOR EU, 2022)

“How easily could you obtain proof of diagnosis for your medical condition?” Feedback from individuals with chronic medical conditions on a digital diagnosis validation feature

Vincent S, Borecka O, Llewellyn S, Bottomley C (ISPOR EU, 2022)

WHITE PAPER: Patient-centric real-world evidence: benefits, uses, and the power of digital technology

Amini F, Bagshaw E, Bottomley C, Larkin M (2022)

When is a patient a patient? Diagnosis validation in patient-centered research

Llewellyn S, Bottomley C, Borecka O (National PROMS UK, 2022)

Tips of the Trade: Delivering Patient-Centricity With Digital Real-World Evidence

Monnickendam G, Quinn C, Amini F, Larkin M, Cannon D (ISPOR Value & Outcomes Spotlight, 2022)

Building a bridge between patient and pharma: the CMT story

Amini F (Rare Revolution Magazine, 2022)

A comparison of the reimbursement of digital therapeutics in France, Germany, and the UK

***Ofori A,* *Monnickendam G*** (ISPOR EU, 2021)

Is there an optimal way to estimate healthcare resource use?

Bagshaw E, Llewellyn S, Monnickendam G (ISPOR EU, 2021)

eCOA migration for bring-your-own-device technology: comparison of user testing versus screenshot review

Richards A, Kretz S, Miller F (ISOQOL, 2021)

Comparative study of linguistic validation developer-prescribed processes involved in the development of patient-reported outcomes

Miller F, Kretz S, Richards A, Spinage C (ISOQOL, 2021)

Which data are migraine patient registries collecting? A targeted review

Ofori A, Llewellyn S, Bottomley C, Kousoulakou H (Value in Health, 23(2): S746)

Gamification – the future of real-world patient-reported studies? Analysis of the ethical and legal challenges of applying gamification in observational studies using smartphone apps: a review of the UK and France

Richards A, Bottomley C (Quality of Life Research, 29: S129)

Treatment patterns and healthcare resource use in primary hypercholesterolaemia and mixed dyslipidaemia: results of a UK Delphi panel

Llewellyn S, Bilitou A, Dunton K, Åkesson C, Hall K, Quinn C (EAS, 2020)

A conceptual framework for the approach to the evluation of oncology survival benefit in health technology assessment

Monnickendam G, Larkin M, Larkin J, Quinn C (ISPOR EU, 2020)

What role does caregiver burden play in health technology assessment bodies’ appraisals of highly specialized technologies?

Ofori A, Llewellyn S, Bottomley C, Kousoulakou H (ISPOR EU, 2020)

Sickle cell disease patient registries are not collecting enough data

Llewellyn S, Doe A, Åkesson C, Kousoulakou H, Quinn C, Larkin M (ISPOR US, 2020)

Complexities in localizing participant profile survey questions in real-world studies for smartphone apps

Kretz S, Richards A (Quality of Life Research, 29: S135)

MANUSCRIPT: The clinical and cost-effectiveness of supplemental parenteral nutrition in oncology

Webb N, Fricke J, Hancock E, Trueman D, Ghosh S, Winstone J, Miners A, Shepelev J, Valle JW (ESMO Open. 2020 Jun 1;5(3):e000709)

Challenges with using paper format legacy Patient Reported Outcome Measures (PROMs) in digital real-world evidence (RWE) studies for apps

Kretz S, Spinage C, Bottomley C (Quality of Life Research, 29: S137)

Innovative partnerships with patients and patient advocacy groups in digital observational rare disease studies.

Llewellyn S,Bagshaw E,Williams H,Larkin M (RARE Patient Advocacy Summit; 2019 Sep 18-20; San Diego, CA, US)

Myasthenia gravis

MANUSCRIPT: Patient-reported impact of myasthenia gravis in the real world: findings from a digital observational survey-based study (MyRealWorld MG)

Berrih-Aknin S, Palace J, Meisel A, Claeys K, Muppidi S, Saccà F, Amini F, Larkin M, Quinn C, Beauchamp J, Philips G, De Ruyck F, Ramirez J, Paci S (BMJ Open 2023)

MANUSCRIPT: Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG

Dewilde S, Philips G, Paci S, Beauchamp J, Chiroli S, Quinn C, Day L, Larkin M, Palace J, Berrih-Aknin S, Claeys K, Muppidi S, Mantegazza R, Saccà F, Meisel A, Bassez G, Murai H, Janssen MF (BMJ Open 2022)

WHITE PAPER: Unleashing the potential of real-world evidence in rare diseases

Murthy A, Mantegazza R, Larkin M, Friconneau M, Annemans L, Van Damme B, Sokol T, Emond S (2022)

Digital data collection to measure the impact of myasthenia gravis on patients' utility values in the real world

Dewilde S, Kousoulakou H, Janssen M, Claeys K, Friconneau M, Jacob S, Meisel A, Day L, Quinn C, Larkin M, Leighton T, Phillips G, Paci S (Value in Health, 25(1): S246)

Real-world patient-reported impact of myasthenia gravis: initial data from the MyRealWorld MG study

Berrih-Aknin S, Claeys KG, Friconneau M, Mantegazza R, Meisel A, Murai H, Palace J, Saccà F, Bagshaw E, Larkin M, Beauchamp J, De Ruyck F, Paci S, Phillips G (AANEM, 2021)

MANUSCRIPT: Patient-reported impact of myasthenia gravis in the real world: protocol for a digital observational study (MyRealWorld MG)

Berrih-Aknin S, Claeys K, Law N, Mantegazza R, Murai H, Sacca F, Dewilde S, Janssen M, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J, Leighton T, Paci S (BMJ Open 2021;11:e048198. doi: 10.1136/bmjopen-2020-048198)

Capturing the patient-reported impact of myasthenia gravis in the real-world setting using a smartphone application

Assouly P, Berrih-Aknin S, Claeys K, Murai H, Palace J, Saccà F, Baggi F, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J (Muscle & Nerve, 62: S65-S66)

Capturing the patient-reported impact of myasthenia gravis in the real-world setting using a smartphone application

Palace J, Assouly P, Claeys KG, Saccà F, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J, Leighton T, Paci S (ABN, 2020)

Capturing the patient-reported impact of myasthenia gravis in the real-world setting using a smartphone application

Meisel A, Assouly P, Berrih-Aknin S, Claeys KG, Murai H, Palace J, Saccà F, Baggi F, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J, Leighton T, Paci S (DGN, 2020)

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

Protocol for the first global study capturing the patient-reported impact of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) in the real-world setting using a smartphone application

Pontius A, Meier A, Papapetropoulos S, Lynch DS, Edwards H, Day L, Llewellyn S, Quinn C (ISPOR EU 2022)

Protocol for the first global study capturing the patient-reported impact of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) in the real-world setting using a smartphone application

Pontius A, Meier A, Papapetropoulos S, Lynch DS, Edwards H, Day L, Llewellyn S, Quinn C (Global Genes 2022 RARE Patient Advocacy Summit)

Cystic fibrosis

Extrapulmonary disease burden and impact of cystic fibrosis (CF) on productivity in people with CF (pwCF) aged >12 years not treated with CF transmembrane conductance regulator modulators (CFTRm): interim analysis (IA) of the HUBBLE study

Elborn S, Mainz J, Abbott J, Carr S, Sole A, Costa S, Ganapathy V, Arteaga-Solis E, Liu J, Yuan J, Thorat T, Llewellyn S, Larkin M, De Iorio F, Kaplowitz H (ITS Annual Scientific Meeting, 2021)

Beta-thalassemia

MANUSCRIPT: Patient‑ and Caregiver‑Reported Burden of Transfusion‑Dependent β‑Thalassemia Measured Using a Digital Application

Paramore C, Levine L, Bagshaw E, Ouyang C, Kudlac A, Larkin M (Springer Nature’s, The Patient – Patient-Centered Outcomes Research, 2020)

Patient-reported burden of transfusion-dependent Beta-Thalassemia in the USA and UK measured using a digital app

Paramore C, Helfer J, Levine L, Kousoulakou H, Larkin M (ISPOR EU, 2019)

Charcot-Marie-Tooth

Patient-reported symptom severity of Charcot-Marie-Tooth disease type 1A: findings from a digital real-world study

Thomas FP, Attarian S, Sevilla T, Genovese F, Gray AJ, Bull S, Tanesse D, Moore A, Hollett C, Paoli X, Day L, Kudlac A, Lau JKL, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2023)

Patient-reported severity of lower extremity + upper limb disability in Charcot-Marie-Tooth disease type 1A: findings from a digital real-world study

Thomas FP, Attarian S, Sevilla T, Genovese F, Gray AJ, Bull S, Tanesse D, Moore A, Hollett C, Paoli X, Day L, Kudlac A, Lau JKL, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2023)

MANUSCRIPT: Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study

Thomas FP, Saporta MA, Attarian S, Sevilla T, Sivera R, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Paoli X, Senechal T, Day L, Ouyang C, Llewellyn S, Larkin M, Boutalbi Y (Journal of Clinical Neuromuscular Disease, 24(1): 7-17 )

Depression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A): findings from a real-world digital study

Thomas F, Sevilla T, Sivera R, Genovese F, Gray A, Paoli X, Sénéchal T, Day L, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2022)

Patient-reported symptom burden of Charcot-Marie-Tooth disease type 1A (CMT1A): findings from a real-world digital study

Thomas F, Sevilla T, Sivera R, Genovese F, Gray A, Paoli X, Sénéchal T, Day L, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2022)

Work impacts in patients with Charcot-Marie-Tooth disease type 1A (CMT1A): findings from a real-world digital study

Thomas F, Sevilla T, Sivera R, Genovese F, Gray A, Paoli X, Sénéchal T, Day L, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2022)

Disease burden and quality of life in patients with Charcot-Marie-Tooth disease type 1A, 2, 4 and X in Europe and the US measured using a digital app

Ziemssen T, Thomas FP, Sivera R, Saporta M, Genovese F, Gray A, Hollett C, Moore A, Rego M, Boutalbi Y, Monteiro K, Paoli X, Hall K, Llewellyn S, Larkin M, Ouyang C, Quinn C (Muscle & Nerve, 62: S69-S70)

MANUSCRIPT: Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

Thomas FP, Saporta M, Attarian S, Sevilla T, Mascaró RS, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Monteiro K, Paoli X, *Llewellyn S, Larkin M**, Boutalbi Y* (Neurodegenerative Disease Management, 2021; 11(1): 21-33)

Patient-reported symptom burden of Charcot-Marie-Tooth disease Type 1a in Europe and the US measured using a digital app

Thomas FP, Attarian S, Gray A, Hollett C, Moore A, Boutalbi Y, Monteiro K, Paoli X, Hall K, Llewellyn S, Ouyang C, Larkin M (Value in Health, 23(1): S343)

Patient-reported burden of Charcot-Marie-Tooth disease Type 1a In Europe and the US measured using a digital app

Thomas FP, Attarian S, Gray A, Hollett C, Moore A, Boutalbi Y, Monteiro K, Paoli X, Hall K, Llewellyn S, Ouyang C, Larkin M (Value in Health, 23(1): S343-344)

Productivity losses in people with Charcot-Marie-Tooth disease in the EU and US: interim results from an international digital real-world evidence study

Ziemssen T, Thomas FP, Attarian S, Sevilla T, Gray A, Hollett C, Moore A, Bertrand V, Boutalbi Y, Larrazet M, Monteiro K, Paoli X, Llewellyn S, Bagshaw E, Kousoulakou H, Larkin M (ISPOR EU, 2019)

Healthcare resource use in Charcot-Marie-Tooth disease in the EU and US: interim results from an international digital real-world study

Ziemssen T, Thomas FP, Attarian S, Sevilla T, Gray A, Hollett C, Moore A, Bertrand V, Boutalbi Y, Larrazet M, Monteiro K, Paoli X, Bagshaw E, Kousoulakou H, Larkin M (ISPOR EU, 2019)

Demographics and treatment patterns for Charcot-Marie-Tooth disease in the EU and US: interim results from an international digital real-world study

Ziemssen T, Thomas FP, Attarian S, Sevilla T, Gray A, Hollett C, Moore A, Bertrand V, Boutalbi Y, Larrazet M, Monteiro K, Paoli X, Bagshaw E, Kousoulakou H, Larkin M (ISPOR EU, 2019)

Diversity in the Charcot–Marie–Tooth disease population in the United Kingdom and United States: insights from a digital real-world observational study

Ziemssen T, Thomas FP, Attarian S, Sevilla T, Gray A, Hollett C, Moore A, Bertrand V, Boutalbi Y, Larrazet M, Monteiro K, Paoli X, Llewellyn S, Bagshaw E, Kousoulakou H, Larkin M (AANEM, 2019)

Treatment of the Charcot-Marie-Tooth disease population in the United Kingdom and United States: insights from a digital real-world observational study

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Monteiro K, Bagshaw E, Kousoulakou H, Larkin M (AANEM, 2019)

Treatment patterns for Charcot-Marie-Tooth disease in the UK and US: insights from a digital real-world observational study

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (EAN, 2019)

Care standards for Charcot-Marie-Tooth disease in the UK and US: insights from a digital real-world observational study

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (EAN, 2019)

Diversity in the Charcot-Marie-Tooth disease population in the UK and US: insights from a digital real-world observational study

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (EAN, 2019)

Digitally assessed real-world diversity in people with Charcot-Marie-Tooth disease in the UK and US

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (PNS, 2019)

Digitally assessed patient-reported real-world care standards for Charcot-Marie-Tooth disease in the UK and US

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (PNS, 2019)

Patient-reported real-world care standards for Charcot-Marie-Tooth disease in the UK and US assessed using a digital ‘bring your own device’ platform

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (ISPOR US, 2019)

Patient-reported real-world treatment patterns for Charcot-Marie-Tooth disease in the UK and US assessed using a digital ‘bring your own device’ platform

Ziemssen T, Attarian S, Thomas FP, Moore A, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Bagshaw E, Kousoulakou H, Larkin M (ISPOR US, 2019)

Development of a digital app and innovative recruitment for an international real-world observational study in Charcot-Marie-Tooth disease

Ziemssen T, Attarian S, Thomas FP, Tanesse D, Paoli X, Bertrand V, Boutalbi Y, Kousoulakou H, Larkin M (ISPOR Europe, 2018)

Melanoma

Deprivation and access to care among patients with melanoma in the UK

Quinn C, Larkin M, Jacobs I, Kandola S, Smoyer K (ISPOR EU, 2022)

Using patient-reported data to estimate costs associated with melanoma in the UK: a digital registry

*Javed M**, Quinn C, Amini F, Boxell E* (National PROMS UK, 2022)

Contextualizing qualitative analysis with quantitative data on the symptoms and side effects associated with melanoma treatment in the real world – the value of patient registries

Ofori A, Ravindra H, Hall K, Bottomley C, Quinn C, Larkin M, Heinrich M (ISOQOL 2021)

How do patients manage side effects during melanoma treatment? The importance of social support and doctor–patient communication

Ofori A, Hall K, Bottomley C, Larkin M, Heinrich M (The Christie School of Oncology, Melanoma Study Day 2021)

Rewarding participants through charitable donations to Melanoma UK motivates recruitment and engagement: a bring your own device study example

Hall K, Ouyang C, Chilongo A, Llewellyn S, Quinn C, Larkin M (Quality of Life Research; 29: S91-S92)

Patient-centricity in action: using patient feedback to adapt the PRO-CTCAE instrument in a real-world study

Llewellyn S, Hall K, Camidge L, Bottomley C, Nixon A, Larkin M (Quality of Life Research, 29: S91)

Melanoma patient registries: a targeted review and comparison of datasets

Hall K, Llewellyn S, Bottomley C, Larkin M (Quality of Life Research, 29: S113)

Assessing the value of real-world evidence in melanoma in health technology assessment appraisals

Llewellyn S, Doe A, Quinn C (DIA Europe, 2020)

Targeted review of adverse events associated with treatments for stage 3 and 4 melanoma

Llewellyn S, Bagshaw E, Åkesson C, Kousoulakou H, Larkin M (ISPOR Europe, 2019)

Adverse events associated with immunotherapies used in the treatment of stage 3 and 4 melanoma

Llewellyn S, Åkesson C, Kousoulakou H, Larkin M (ISPOR US, 2019)

Patient-reported real-world treatment patterns for melanoma in the UK measured using a digital ‘bring your own device’ platform

Larkin J, Cannon D, Nuttall G, Au L, Hunter N, Spain L, Turajlic S, Åkesson C, Llewellyn S, Nixon A, Kousoulakou H, Larkin M, Wiseman T (ISPOR US, 2019)

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publications

Working in collaboration with our sponsors, clinical experts, and patient groups, we distill the data from our studies into compelling publications in peer-reviewed journals and conference posters.

Take a look at our publications archive to see how our work amplifies the voices of our study participants.

Alsawady M, Borecka O, Llewellyn S (ISPOR US, 2023)

Alsawady M, Amini F, Vincent S, Llewellyn S (ISPOR US, 2023)

Llewellyn S (ISPOR US, 2023)

Llewellyn S, Amini F, Borecka O, Ofori A (Pharma Focus Asia, 2023)

Borecka O, Ofori A, Amini F, Llewellyn S (Future Rare Diseases, 2022)

Day L, Lau J, Quinn C (ISPOR EU, 2022)

Borecka O, Ofori A, Llewellyn S (ISPOR EU, 2022)

Vincent S, Borecka O, Llewellyn S, Bottomley C (ISPOR EU, 2022)

Amini F, Bagshaw E, Bottomley C, Larkin M (2022)

Llewellyn S, Bottomley C, Borecka O (National PROMS UK, 2022)

Tips of the Trade: Delivering Patient-Centricity With Digital Real-World Evidence

Building a bridge between patient and pharma: the CMT story

A comparison of the reimbursement of digital therapeutics in France, Germany, and the UK

Ofori A, Monnickendam G (ISPOR EU, 2021)

Is there an optimal way to estimate healthcare resource use?

eCOA migration for bring-your-own-device technology: comparison of user testing versus screenshot review

Richards A, Kretz S, Miller F (ISOQOL, 2021)

Comparative study of linguistic validation developer-prescribed processes involved in the development of patient-reported outcomes

Miller F, Kretz S, Richards A, Spinage C (ISOQOL, 2021)

Which data are migraine patient registries collecting? A targeted review

Ofori A, Llewellyn S, Bottomley C, Kousoulakou H (Value in Health, 23(2): S746)

Gamification – the future of real-world patient-reported studies? Analysis of the ethical and legal challenges of applying gamification in observational studies using smartphone apps: a review of the UK and France

Richards A, Bottomley C (Quality of Life Research, 29: S129)

Treatment patterns and healthcare resource use in primary hypercholesterolaemia and mixed dyslipidaemia: results of a UK Delphi panel

A conceptual framework for the approach to the evluation of oncology survival benefit in health technology assessment

Monnickendam G, Larkin M, Larkin J, Quinn C (ISPOR EU, 2020)

What role does caregiver burden play in health technology assessment bodies’ appraisals of highly specialized technologies?

Ofori A, Llewellyn S, Bottomley C, Kousoulakou H (ISPOR EU, 2020)

Sickle cell disease patient registries are not collecting enough data

Llewellyn S, Doe A, Åkesson C, Kousoulakou H, Quinn C, Larkin M (ISPOR US, 2020)

Complexities in localizing participant profile survey questions in real-world studies for smartphone apps

Kretz S, Richards A (Quality of Life Research, 29: S135)

MANUSCRIPT: The clinical and cost-effectiveness of supplemental parenteral nutrition in oncology

Webb N, Fricke J, Hancock E, Trueman D, Ghosh S, Winstone J, Miners A, Shepelev J, Valle JW (ESMO Open. 2020 Jun 1;5(3):e000709)

Challenges with using paper format legacy Patient Reported Outcome Measures (PROMs) in digital real-world evidence (RWE) studies for apps

Kretz S, Spinage C, Bottomley C (Quality of Life Research, 29: S137)

Innovative partnerships with patients and patient advocacy groups in digital observational rare disease studies.

Llewellyn S,Bagshaw E,Williams H,Larkin M (RARE Patient Advocacy Summit; 2019 Sep 18-20; San Diego, CA, US)

Myasthenia gravis

Berrih-Aknin S, Palace J, Meisel A, Claeys K, Muppidi S, Saccà F, Amini F, Larkin M, Quinn C, Beauchamp J, Philips G, De Ruyck F, Ramirez J, Paci S (BMJ Open 2023)

Dewilde S, Philips G, Paci S, Beauchamp J, Chiroli S, Quinn C, Day L, Larkin M, Palace J, Berrih-Aknin S, Claeys K, Muppidi S, Mantegazza R, Saccà F, Meisel A, Bassez G, Murai H, Janssen MF (BMJ Open 2022)

WHITE PAPER: Unleashing the potential of real-world evidence in rare diseases

Murthy A, Mantegazza R, Larkin M, Friconneau M, Annemans L, Van Damme B, Sokol T, Emond S (2022)

Digital data collection to measure the impact of myasthenia gravis on patients' utility values in the real world

Dewilde S, Kousoulakou H, Janssen M, Claeys K, Friconneau M, Jacob S, Meisel A, Day L, Quinn C, Larkin M, Leighton T, Phillips G, Paci S (Value in Health, 25(1): S246)

Berrih-Aknin S, Claeys KG, Friconneau M, Mantegazza R, Meisel A, Murai H, Palace J, Saccà F, Bagshaw E, Larkin M, Beauchamp J, De Ruyck F, Paci S, Phillips G (AANEM, 2021)

MANUSCRIPT: Patient-reported impact of myasthenia gravis in the real world: protocol for a digital observational study (MyRealWorld MG)

Berrih-Aknin S, Claeys K, Law N, Mantegazza R, Murai H, Sacca F, Dewilde S, Janssen M, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J, Leighton T, Paci S (BMJ Open 2021;11:e048198. doi: 10.1136/bmjopen-2020-048198)

Capturing the patient-reported impact of myasthenia gravis in the real-world setting using a smartphone application

Assouly P, Berrih-Aknin S, Claeys K, Murai H, Palace J, Saccà F, Baggi F, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J (Muscle & Nerve, 62: S65-S66)

Capturing the patient-reported impact of myasthenia gravis in the real-world setting using a smartphone application

Palace J, Assouly P, Claeys KG, Saccà F, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J, Leighton T, Paci S (ABN, 2020)

Capturing the patient-reported impact of myasthenia gravis in the real-world setting using a smartphone application

Meisel A, Assouly P, Berrih-Aknin S, Claeys KG, Murai H, Palace J, Saccà F, Baggi F, Bagshaw E, Kousoulakou H, Larkin M, Beauchamp J, Leighton T, Paci S (DGN, 2020)

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

Protocol for the first global study capturing the patient-reported impact of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) in the real-world setting using a smartphone application

Pontius A, Meier A, Papapetropoulos S, Lynch DS, Edwards H, Day L, Llewellyn S, Quinn C (ISPOR EU 2022)

Protocol for the first global study capturing the patient-reported impact of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) in the real-world setting using a smartphone application

Pontius A, Meier A, Papapetropoulos S, Lynch DS, Edwards H, Day L, Llewellyn S, Quinn C (Global Genes 2022 RARE Patient Advocacy Summit)

Cystic fibrosis

Extrapulmonary disease burden and impact of cystic fibrosis (CF) on productivity in people with CF (pwCF) aged >12 years not treated with CF transmembrane conductance regulator modulators (CFTRm): interim analysis (IA) of the HUBBLE study

Beta-thalassemia

MANUSCRIPT: Patient‑ and Caregiver‑Reported Burden of Transfusion‑Dependent β‑Thalassemia Measured Using a Digital Application

Paramore C, Levine L, Bagshaw E, Ouyang C, Kudlac A, Larkin M (Springer Nature’s, The Patient – Patient-Centered Outcomes Research, 2020)

Patient-reported burden of transfusion-dependent Beta-Thalassemia in the USA and UK measured using a digital app

Paramore C, Helfer J, Levine L, Kousoulakou H, Larkin M (ISPOR EU, 2019)

Charcot-Marie-Tooth

Thomas FP, Attarian S, Sevilla T, Genovese F, Gray AJ, Bull S, Tanesse D, Moore A, Hollett C, Paoli X, Day L, Kudlac A, Lau JKL, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2023)

Thomas FP, Attarian S, Sevilla T, Genovese F, Gray AJ, Bull S, Tanesse D, Moore A, Hollett C, Paoli X, Day L, Kudlac A, Lau JKL, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2023)

Thomas FP, Saporta MA, Attarian S, Sevilla T, Sivera R, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Paoli X, Senechal T, Day L, Ouyang C, Llewellyn S, Larkin M, Boutalbi Y (Journal of Clinical Neuromuscular Disease, 24(1): 7-17 )

Depression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A): findings from a real-world digital study

Thomas F, Sevilla T, Sivera R, Genovese F, Gray A, Paoli X, Sénéchal T, Day L, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2022)

Patient-reported symptom burden of Charcot-Marie-Tooth disease type 1A (CMT1A): findings from a real-world digital study

Thomas F, Sevilla T, Sivera R, Genovese F, Gray A, Paoli X, Sénéchal T, Day L, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2022)

Work impacts in patients with Charcot-Marie-Tooth disease type 1A (CMT1A): findings from a real-world digital study

Thomas F, Sevilla T, Sivera R, Genovese F, Gray A, Paoli X, Sénéchal T, Day L, Llewellyn S, Larkin M, Boutalbi Y (PNS, 2022)

Disease burden and quality of life in patients with Charcot-Marie-Tooth disease type 1A, 2, 4 and X in Europe and the US measured using a digital app

***Ofori A,* *Monnickendam G*** (ISPOR EU, 2021)

Thomas FP, Saporta M, Attarian S, Sevilla T, Mascaró RS, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Monteiro K, Paoli X, *Llewellyn S, Larkin M**, Boutalbi Y* (Neurodegenerative Disease Management, 2021; 11(1): 21-33)