Pathological elucidation study using AMPA-PET and GABA-PET for patients with Angelman syndrome

JRCT ID: jRCTs031210261

Registered date:19/08/2021

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: Angelman Syndrome
• Date of first enrollment: 19/08/2021
• Target sample size: 10
• Study type: Interventional
• Intervention(s): Administration unapproved drug

Outcome(s)

• Primary Outcome: AMPA receptor density in the brain of patients with Angelman syndrome (compared to the database of healthy subjects)
• Secondary Outcome: GABA receptor density in the brain of patients with Angelman syndrome (compared to the database of healthy subjects)

Key inclusion & exclusion criteria

• Age minimum: >= 20age old
• Age maximum: < 50age old
• Gender: Both

Include criteria

- 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.

Exclude criteria

- 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

Related Information

• Primary Sponsor: Miyazaki Tomoyuki
• Secondary Sponsor: Takahashi Takuya
• Source(s) of Monetary Support: Practical Research Project for Rare / Intractable Diseases