Niemann-Pick Disease, Type C1
Conditions
Brief summary
This study is planned to study whether lithium carbonate has protective effect on the brain of Niemann-Pick disease type C1.
Interventions
DRUGLithium Carbonate
To observe whether lithium carbonate has protective role on the brain of Niemann-Pick disease C1
Sponsors
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
7 Years to 40 Years
Healthy volunteers
No
Inclusion criteria
1. aged from 7 years to 40 years 2. onset of neurological symptoms prior to 15 years of age 3. confirmed diagnosis of NPC1 determined by either two NPC1 mutations or one NPC1 mutation with elevated plasma 7-ketocholesterol 4. ability to walk either independently or with assistance 5. Subject or parent/guardian able to communicate with investigator, understand and abide the rules of this clinical trial. 6. parent/guardian able to accompany the subjects to participate in the clinical trial 7. Subject or parent/guardian must provide written informed consent
Exclusion criteria
1. One NPC clinical severity scale score reached 5 2. Female in pregnancy or breastfeeding 3. The predicted life span less than 1 year 4. Severe liver insufficiency (defined as hepatic laboratory parameters, AST and/or ALT greater than three-times the upper limit of normal 5. Renal insufficiency, with the serum creatine greater than 1.5 times the upper limit of normal 6. Free with neurological symptoms 7. Take antidiuretic hormone
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| NPC clinical severity score | 52 weeks |
Secondary
| Measure | Time frame |
|---|---|
| 7-ketocholesterol | 52 weeks |
Countries
China
Outcome results
None listed