| Item | Content |
|---|---|
| Research project name | Research Project on the Rare / Intractable Disease |
| Study title | A clinical study on treatable intellectual disability syndrome most commonly characterized by cerebral creatine deficiency syndromes |
| Name of principal investigator | Takahito Wada |
| Name of institution of the principal investigator | Graduate School of Medicine, Kyoto University |
| Target disease | ATR-X syndrome |
| Registry name | Registration system of patients with X-linked α-thalassemia/intellectual disability syndrome (ATR-X) |
| Purpose of registry | Survey of natural history, Investigation into the number or the distribution of patients, Epidemiological study, Patient recruitment for clinical trials or other interventional studies, Application as a control group in clinical trials, Sample collection, Investigation of biomarkers, Genetic analysis study, Provision of information to registered patients, Provision of information to physicians in charge |
| Overview of registry | The subjects are patients who are clinically and molecular genetically diagnosed with ATR-X syndrome. Molecular genetic diagnosis is essential for isolated cases. Molecular genetic diagnosis is not essential for familial cases if there is a sibling who has been diagnosed molecular genetically without clinical inconsistency. All patients who are diagnosed with ATR-X syndrome are included as the subjects. The registration system will be established and operated in the form to secure patient’s personal information with ethical considerations in conduction of clinical studies and clinical trials on ATR-X syndrome or clinical researches for preparation of the diagnostic criteria and natural history. |
| Research item | Name, Sex, Date of birth, Address, Contact (TEL, FAX, e-mail address, etc.), Information about the current medical institutions of patients, Place of birth, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data, Degree of severity, Clinical course, ADL, QOL, Cause of death |
| Contact | Takahito Wada |
| E-mail address | wadataka●kuhp.kyoto-u.ac.jp |
| Registry URL | http://atr-x.jp |
* If the E-mail address is shown, replace "●" with "@", please.