| Item | Content |
|---|
| Research project name |
Practical Research Project for Rare / Intractable Diseases |
| Study title |
Study to clarify the clinical basis of congenital hypomyelinating leukodystrophy |
| Name of principal investigator |
Ken Inoue |
| Name of institution of the principal investigator |
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry |
| Target disease |
Congenital hypomyelinating leukodystrophy |
| Registry name |
Registration system of all patients with congenital hypomyelinating leukodystrophy with IBISS |
| Purpose of registry |
Survey of natural history, Investigation into the number or the distribution of patients, Patient recruitment for clinical trials or other interventional studies, Genetic analysis study
|
| Overview of registry |
This is to register patients with rare diseases and collect clinical and image information by integrated registration of brain image information and clinical information of patients with congenital hypomyelinating leukodystrophy. This registry is designed to function as the platform in recruitment of patients and clinical studies other than the surveys on disease natural history and collection of epidemiological information. This system is characterized by integrated management of image data and clinical data based on storage of MRI image data which is important for diagnosis and assessment of degree of severity of congenital hypomyelinating leukodystrophy and safe registration on the website.
|
| Research item |
Name, Sex, Date of birth, Address, Contact (TEL, FAX, e-mail address, etc.), Information about the current medical institutions of patients, Family history, Past medical history, History of present illness, Laboratory data, Degree of severity
|
| Contact |
Ken Inoue |
| E-mail address |
kinoue●ncnp.go.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
