Rare disease Archives

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis

Authors: V Saraff, P Sancho, J Bacchetta, A M Boot, C Burren, AChinoy, P Dharmaraj, M A G Llorente, J D G Rodríguez, I Gueorguieva, E H Davies, W Hayes, S Komarzynski,...

Long-term outcomes of Eladocagene Exuparvovec compared with standard of care in aromatic l-Amino Acid Decarboxylase (AADC) deficiency: A modelling study

Authors: C L Simons, W-L Hwu, R Zhang, M J H G Simons, M Bergkvist, C Bennison Published: Advances in Therapy, 2023 View publication Introduction Aromatic L-amino acid decarboxylase (AADC) deficiency is...

“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US

Authors: K M Bailey, N Sahota, U To & P Hedera Published: Orphanet Journal of Rare Diseases, 2023 View publication Background Wilson disease (WD) is a genetic disorder of copper metabolism that...

Development of an innovative SQL-based approach to identify potential patients with neurotransmitter disorders

Authors: E Fox, V Mehta, R Madhu3, E Wassmer, R Arora, T Cox, D Heaton, J Granerod & M Rance Published: International Journal of Rare Diseases & Disorders, 2022 View publication Background...

Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in southern Europe

Authors: S Saberian, P Rowan, F Hammes, P Patel, F Fernandez-Cortes, K Buesch, I Beitia Ortiz de Zarate Published: Current medical research and opinion, 2022 View publication Background Aromatic L-amino acid decarboxylase...

Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review

Authors: H Schmidt, M W Cruz, M F Botteman, J A Carter, A Chopra, M Stewart, M Hopps, S Fallet, L Amass Published: Amyloid, 2017 View publication No abstract available

Measuring meaningful benefit-risk tradeoffs to promote patient-focused drug development in Prader-Willi syndrome: a discrete-choice experiment

Authors: J-H Tsai, N L Crossnohere, T Strong, J F P Bridges Published: MDM policy & practice, 2021 View publication Background Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder causing quality of...

Patient-reported complications, symptoms, and experiences of living with x-linked hypophosphatemia across the life-course

Authors: M Cheung, A J Rylands, A Williams, K Bailey, J Bubbear Published: Journal of the Endocrine Society, 2021 View publication Context X-linked hypophosphatemia (XLH) is a rare, genetic phosphate-wasting disease resulting...

Prediagnosis pathway benchmarking audit in patients with Duchenne Muscular Dystrophy

Authors: V L Gowda, M Fernandez, M Prasad, A-M Childs, I Hughes, S Tirupathi, C G E L De Goede, D O'Rourke, D Parasuraman, T Willis, S Saberian, I Davidson Published: Archives...

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