Pathological elucidation study using AMPA-PET and GABA-PET for patients with Angelman syndrome
- Conditions
- Angelman SyndromeD017204
- Registration Number
- JPRN-jRCTs031210261
- Lead Sponsor
- Miyazaki Tomoyuki
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 10
Patients who meet Williams clinical diagnostic criteria
- Genetically confirmed Angelman syndrome (deletion, uniparental disomy, imprinted mutation, or UBE3A gene mutation)
- Men and women between 20 and 50 years old at the time of registration
- Patients who have given written consent to participate in this study.
- Patients who have respiratory problems.
- Patients who have an allergy to anesthetics.
- Pregnant, lactating female.
- Sensitive to alcohol
- Implantation of metal substances and pacemakers
- Head, neck and body size not suitable for MRI scanner
- A tattoo larger than one point (including tattoo and art makeup)
- A remarkable variant of brain structure (including congenital and traumatic)
- Take Clonazepam, Clobazam
- Patients who are taking benzodiazepine hypnotics and cannot stop the drug from a week before the [11C] Flumazenil test.
- At the time of registration, any of the following laboratory test value abnormalities
Serum creatinine 1.5 mg / dl or more
AST 150 IU / L or more
ALT 150 IU / L or more
- Participating in unapproved nuclear medicine clinical trials and clinical trials within 6 months prior to enrollment
- Patients judged as inappropriate for study by the research investigator
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method AMPA receptor density in the brain of patients with Angelman syndrome (compared to the database of healthy subjects)
- Secondary Outcome Measures
Name Time Method GABA receptor density in the brain of patients with Angelman syndrome (compared to the database of healthy subjects)