Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Michela Guglieri
Newcastle University, UK
Posters & Accepted Abstracts: J Genet Syndr Gene Ther
Research and patient communities are united in the opinion that rare diseases require new and better therapies. Drug development programs for rare diseases have many challenges, including the limited numbers of patients and lack of clinical and researchsavvy experts. International, multi-center studies in rare diseases provide added value by promoting global standards of care and by expanding market for new treatments but also represent a challenge to set-up in view of the lack of harmonization in the regulatory process between US and EU and within different EU countries. Efforts have been made in both EU and US to reduce bureaucratic delays in setting up multi-center clinical trials, to increase the efficiency of clinical trials and expand the ability to promptly deliver new therapies to patients with rare diseases. The approval system remains slow and will need to adapt to the recent development of new therapies for rare diseases which will hopefully increase the demand for prompt evaluations by the competent authorities. More recently, drug development costs have been raised as a further obstacle in developing new therapies for rare diseases. The high costs associated with drug development programs from pre-clinical to phase-I studies, to pre-marketing trials lead to often unaffordable drugs and non-sustainable drug development. Duchenne muscular dystrophy has seen a large investment in terms of new treatments entering clinical research over the past 10 years. It represents a good example where different strategies have been developed to overstep many of the challenges of drug development, which include the set up of patient registries, care and clinical trial site registries, networking, interaction with regulatory authorities and venture philanthropy models for drug development. Also the experience gained from the translational research in DMD over the past 10 years can be shared to learn about existing obstacles, to anticipate them and planned around them to ensure a realistic delivery of research.