Clinical trial NCT04988867: An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome
Official title: An Open-Label Study of Trofinetide for the Treatment of Girls Two to Five Years of Age Who Have Rett Syndrome
Study type: INTERVENTIONAL
Overall status: TERMINATED
Phase: PHASE2
PHASE3
Conditions: Rett Syndrome
Lead sponsor: ACADIA Pharmaceuticals Inc.
Sponsor class: INDUSTRY
First posted: 2021-08-04
Enrollment: 15
Sex: FEMALE
Minimum age (years): 2
Maximum age (years): 5
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls with Rett syndrome


Eligibility criteria: Inclusion Criteria:

* Female subject

  1. 2 to 4 years of age and body weight ≥9 kg and \<20 kg at Screening OR
  2. 5 years of age and body weight ≥9 kg and \<12 kg at Screening
* Can swallow the study medication provided as a liquid solution or can take it by gastrostomy tube
* The subject's caregiver is English-speaking and has sufficient language skills to complete the caregiver assessments
* Has classic/typical Rett syndrome (RTT) or possible RTT according to the Rett Syndrome Diagnostic Criteria
* Has a documented disease-causing mutation in the MECP2 gene
* Has a stable pattern of seizures, or has had no seizures, within 8 weeks prior to Screening
* 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 4 weeks prior to Screening

Exclusion Criteria:

* Has been treated with insulin within 12 weeks of Baseline
* 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
* Has a history of, or current, cerebrovascular disease or brain trauma
* Has significant, uncorrected visual or uncorrected hearing impairment
* Has a history of, or current, malignancy
* Has any of the following:

  1. QTcF interval of \>450 ms at Screening or Baseline
  2. History of a risk factor for torsades de pointes (e.g., heart failure or family history of long QT syndrome)
  3. History of clinically significant QT prolongation that is deemed to put the subject at increased risk of clinically significant QT prolongation
  4. Other clinically significant finding on ECG at Screening or Baseline

Additional inclusion/exclusion criteria apply. Patients will be evaluated at baseline 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 prespecified entry criteria).

Primary outcomes:
measure: Safety and Tolerability of Treatment With Oral Trofinetide
timeFrame: Mean study drug exposure 434 days, corresponding to 1.2 years
measure: AUC0-12,ss (Area Under the Concentration-time Curve From Time 0 to 12 h at Steady State)
timeFrame: PK samples were taken predose and at Weeks 2, 4, 8, and 12
measure: Cmax,ss (Maximum Observed Drug Concentration at Steady State)
timeFrame: PK samples were taken predose and at Weeks 2, 4, 8, and 12
measure: Cmin,ss (Minimum Observed Drug Concentration at Steady State of Oral Trofinetide)
timeFrame: PK samples were taken predose and at Weeks 2, 4, 8, and 12
measure: Tmax (Time of the Maximum Observed Drug Concentration at Steady State)
timeFrame: PK samples were taken predose and at Weeks 2, 4, 8, and 12
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama at Birmingham
state: Alabama
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Chicago
country: United States
facility: Rush University Medical Center
state: Illinois
city: Boston
country: United States
facility: Boston Children's Hospital/Harvard Medical School
state: Massachusetts
city: Saint Paul
country: United States
facility: Gillette Children's Hospital
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University
state: Missouri
city: Nashville
country: United States
facility: Vanderbilt University Medical Center
state: Tennessee
Study officials:
References: