Clinical research challenges in rare genetic diseases in Brazil.

Luciana Giugliani,Roberto Giugliani,Claudia Vanzella,Karina Carvalho Donis,Fernando Machado Da Costa,Marina Bauer Zambrano,Thaís Klassmann Wendland Wallau

doi:10.1590/1678-4685-gmb-2018-0174

Luciana Giugliani, Roberto Giugliani + Show 5 more

Open Access

https://doi.org/10.1590/1678-4685-gmb-2018-0174

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Abstract

Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions (80% of them with genetic cause) affect around 8% of the world’s population. Research about the natural history and underlying pathophysiological mechanisms of rare diseases, as well as clinical trials with new drugs, are important and necessary to develop new strategies for the treatment of these conditions. This report describes the experience of a clinical research group working with rare diseases in a reference center for lysosomal diseases in Brazil (Medical Genetics Service, Hospital de Clínicas de Porto Alegre). The activities of this research group enabled its participation in several international multicenter clinical research protocols related to the natural history or therapy development for rare genetic diseases. This participation has allowed the development of personal skills and institutional facilities for clinical research. The clinical research developed in our center has raised the quality of the medical assistance provided to non-clinical research patients in addition to enabling early access to new therapies to many patients with orphan conditions.

Highlights

Rare diseases are defined as abnormal conditions that affect the health status and are infrequent (Souza et al, 2010)
While the definition of rare disease varies by country, prevalence-based definitions range from 1 in 500,000 to 1 in 2,000 (Haffner et al, 2002; Franco, 2013)
In the US, a disease is considered rare if it affects fewer than 200,000 individuals, whereas other countries define a rare disease based on prevalence rates (Franco, 2013)

Summary

Introduction

Rare diseases are defined as abnormal conditions that affect the health status and are infrequent (Souza et al, 2010). Enrollment, and support of patients in the clinical research protocol, every member of the research team needs to be motivated, have good interpersonal skills, and establish a trusting relationship with the family, in addition to provide adequate, clear, and concise explanations about trial procedures (Ruckmani et al, 2012).

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