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A Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome, Comprising a Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Period Followed by an Open-Label Treatment Period

A Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome, Comprising a Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Period Followed by an Open-Label Treatment Period

Robert Hofbauer

Acadia Pharmaceuticals Inc.

502 Carnegie Center, Ste.300, Princeton, NJ 08540, United States

ayamejrct@acadia-pharm.com

Akiyama Yoko

CMIC Co., Ltd.

1-1-1, Minatoku, Shibaura, Tokyo

+81-3-6779-8000

ClinicalTrialInformation@cmic.co.jp

Pending

June. 30, 2025

Interventional

randomized controlled trial

double blind

placebo control

parallel assignment

treatment purpose

1. Female subjects 2 years of age and older at Screening
2. Body weight >= 9 kg at Screening
3. Can swallow the study medication provided as a liquid solution or can take it by gastrostomy tube
4. Has classic/typical Rett syndrome (RTT). For subjects 2 to 4 years of the age, the diagnosis may be possible RTT.
5. Has a documented disease-causing mutation in the MECP2 gene
6. Has a stable pattern of seizures, or has had no seizures, within 8 weeks of Screening
7. Subjects of childbearing potential (e.g., not postmenopausal for at least 1 year or surgically sterile) must agree to use an acceptable birth control method for the duration of the study and 3 months after the last dose of study drug.
8. The subject is of Japanese ethnicity and the subject's caregiver is Japanese-speaking and has sufficient language skills to complete the caregiver assessments
9. Subject and caregiver(s) must reside at a location to which study drug can be delivered and have been at their present residence for at least 1 month prior to Screening

1. Has been treated with insulin within 12 weeks of Baseline
2. Has current clinically significant cardiovascular, endocrine (such as hypo- or hyperthyroidism, Type 1 diabetes mellitus, or uncontrolled Type 2 diabetes mellitus), renal, hepatic, respiratory or gastrointestinal disease (such as celiac disease or inflammatory bowel disease) or has major surgery planned during the study
3. Has a history of, or current, cerebrovascular disease or brain trauma
4. Has significant, uncorrected visual or uncorrected hearing impairment
5. Has a history of, or current, malignancy
6. Has a known history or symptoms of long QT syndrome
Additional inclusion/exclusion criteria apply. Patients will be evaluated at screening to ensure that all criteria for study participation are met. Patients may be excluded from the study based on these assessments (and specifically, if it is determined that their baseline health and condition do not meet all pre-specified entry criteria).

Female

Rett Syndrome

Trofinetide is administered orally twice daily to adults and pediatric patients 2 years of age and older, based on the patient's weight.
The Main Cohort will comprise subjects aged >=5 years and will be randomized to trofinetide or placebo for 12 weeks (Double-blind Period - Period A) followed by treatment with open-label trofinetide for a period of 144 weeks (Period B).
The Younger Cohort will comprise subjects aged 2-4 years and will be treated with open-label trofinetide for a total of 156 weeks.

Clinical Global Impression-Improvement (CGI-I) Score at Week 12

Change from Baseline at Week 12 in Rett Syndrome Behavior Questionnaire (RSBQ) total score

Change from Baseline at Week 12 in:
Communication and Symbolic Behavior Scales Developmental Profile Infant Toddler Checklist - Social Composite Score (CSBS-DP-IT Social)
Rett Syndrome Clinician Rating of Ability to Communicate Choices (RTT-COMC)
RSBQ subscale scores
- General mood
- Breathing problems
- Hand behavior
- Face movements
- Body rocking/expressionless face
- Night-time behaviors
- Fear/anxiety
- Walking/standing
Clinical Global Impression-Severity (CGI-S)

+81-3-6779-8166

April. 24, 2025

No

None