February 28, 2014
Dear Colleagues,

Orphan disease is a global medical and social problem. Patients and their family members are often isolated both geographically and mentally. Practicing physicians as well as researchers are also lonely so that their clinical and research practice are difficult because of the disease rarity and limited information. More than 60 years have passed since Jordans et al reported their first family with lipid droplets in leucocytes and multi-systemic neutral lipid storage in 1953. There have been some clinical categories showing Jordans’anomaly, which include neutral lipid storage disease (NLSD) with myopathy, NLSD with ichthyosis, and triglyceride deposit cardiomyovasculopathy (TGCV). Each of them is an orphan disease, mainly involved in the skeletal muscle, skin, and heart, respectively.

Today, on the WORLD RARE DISEASE DAY, we are pleased to launch the international registry for NLSDs/TGCV. The aim of this registry is obviously to know the natural history, investigate the pathophysiology, and eventually develop specific treatments of the diseases. In addition, what is more important is to communicate between researchers, exchanges information, and establish the international network in order to save patients suffering from NLSDs/TGCV.
It is very fortune that our steering committee members consist of 18 researchers from 9 countries (please see the list and map). Here, all members strongly encourage researchers and physicians who are interested in the diseases as well as have any difficulties to take care of patients to contact with us without any hesitations. We all are very happy to be friends of yours. Please join us!

Thank you very much.

Sincerely yours,

The Steering Committee for the International Registry for NLSDs/TGCV
E-mail: registry@cnt-osaka.com