JRCT ID: jRCT1071220102
Registered date:31/01/2023
Therapeutic effect to supplementation with glycine for isovaleric acidemia
Basic Information
| Recruitment status | Recruiting |
|---|---|
| Health condition(s) or Problem(s) studied | Isovaleric acidemia |
| Date of first enrollment | 30/04/2020 |
| Target sample size | 2 |
| Countries of recruitment | |
| Study type | Interventional |
| Intervention(s) | After taking informed consent, study items such as medical history, physical findings, imaging tests, and blood tests are performed. Glycine dosage should be started at 100~250 mg/kg/day, and the dosage should be reduced and adjusted as necessary after confirming that the patient's general condition is stable. |
Outcome(s)
| Primary Outcome | Number of acute metabolic crisis |
|---|---|
| Secondary Outcome | Degree of blood acidosis, intelligence testing, blood biochemicals: ammonia, glycine, free carnitine. |
Key inclusion & exclusion criteria
| Age minimum | Not applicable |
|---|---|
| Age maximum | Not applicable |
| Gender | Both |
| Include criteria | Patients diagnosed with isovaleric acidemia between March 2006 and March 2023 are able to attend the University of the Ryukyu Hospital. |
| Exclude criteria | Patients or their representatives request refusal to participate this studay. |
Related Information
| Primary Sponsor | Chinen Yasutsugu |
|---|---|
| Secondary Sponsor | |
| Source(s) of Monetary Support | |
| Secondary ID(s) |
Contact
| Public contact | |
| Name | Yasutsugu Chinen |
| Address | 207, Uehara, Nishihara, Okinawa, Japan Okinawa Japan 903-0215 |
| Telephone | +81-98-895-1154 |
| ychinen@med.u-ryukyu.ac.jp | |
| Affiliation | Graduate School of Medicine, University of the Ryukyus |
| Scientific contact | |
| Name | Yasutsugu Chinen |
| Address | 207, Uehara, Nishihara, Okinawa, Japan Okinawa Japan 903-0215 |
| Telephone | +81-98-895-1154 |
| ychinen@med.u-ryukyu.ac.jp | |
| Affiliation | University of the Ryukyus Hospital |