Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

Between 2000 and 2021, the European Medicines Agency (EMA) assigned the orphan
designation to over 1,900 medicines. Due to their small target populations, leading to …

Summary Background Bardet‐Biedl syndrome (BBS) is a rare genetic disorder that severely
inhibits primary cilia function. BBS is typified by obesity in adulthood, but pediatric weight …

Patient organisations play an increasingly crucial role in the pharmaceutical sector, yet their
impact on innovation remains unexplored. We estimate the impact of patient organisations …

The objective of this study was to develop a pilot physician driven patient pyoderma
gangrenosum (PG) registry to summarise patient baseline demographics, PG‐related …

Objective: The aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA)
international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory …

Background Gaucher disease (GD) is a rare autosomal recessive lysosomal storage
disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because …

Objective: Aim of this paper is to present the design, construction, and modalities of
dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for …

Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder.
Patients suffer from relentless neurological deterioration leading to premature death …

Objective: The present manuscript aims to describe an international, electronic-based, user-
friendly and interoperable patient registry for monogenic autoinflammatory diseases …