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,...

Bridging the Gap: Evidence Challenges for Advanced and Orphan Therapies in the EU HTA Landscape

The landscape of Health Technology Assessment (HTA) in Europe is evolving, particularly concerning advanced therapy medicinal products (ATMPs) and orphan medicinal products (OMPs) in oncology. The introduction of the EU HTA Regulation...

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...

The Challenges of Modeling Rare Diseases and Making the Best Use of Limited Data

In general, statistical modeling is used to explore factors such as patient mortality over time, quality of life and cost-effectiveness of a treatment to help various stakeholders make decisions. Modeling the long-term...

“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...

The Exciting Potential for Accelerating Rare Disease Diagnosis and Treatment Access in the UK Through the Newborn Genomes Programme

The following article summarizes important take-away messages from the Westminster Health Forum Policy Conference, which was held on April 28, 2023. The objective of the online meeting was to discuss priorities for...

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

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