Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.
Rare diseases have attracted little attention in the past from physicians and researchers. The situation has recently changed for several reasons. First, patient associations have successfully advocated their cause to institutions and governments. They were able to argue that, taken together, rare diseases affect approximately 10% of the population in developed countries. Second, almost 80% of rare diseases are of genetic origin. Advances in genetics have enabled the identification of the causative genes. Unprecedented financial support has been dedicated to research on rare diseases, as well as to the development of referral centers aimed at improving the quality of care. This expenditure of resources is justified by the experience in cystic fibrosis, which demonstrated that improved care delivered by specialized referral centers resulted in a dramatic increase of life expectancy. Moreover, clinical referral centers offer the unique possibility of developing high quality clinical research studies, not otherwise possible because of the geographic dispersion of patients. This is the case in France where national referral centers for rare diseases were created, including one for muscle channelopathies. The aim of this center is to develop appropriate care, clinical research, and teaching on periodic paralysis and myotonia. In this review, we plan to demonstrate how research has improved our knowledge of hypokalemic periodic paralysis and the way we evaluate, advise, and treat patients. We also advocate for the establishment of international collaborations, which are mandatory for the follow-up of cohorts and conduct of definitive therapeutic trials in rare diseases.
Fontaine
Bertrand
B
Institut National de la Santé et de la Recherche Médicale (INSERM), UMR S546, Paris, France. bertrand.fontaine@psl.aphp.fr
Fournier
Emmanuel
E
Sternberg
Damien
D
Vicart
Savine
S
Tabti
Nacira
N
D035843:Biomedical Research; D053447:Channelopathies / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D007473:Ion Channels / Q000235:genetics; D008954:Models, Biological; D009154:Mutation / Q000235:genetics
D007473:Ion Channels