Rett Syndrome MedDRA version: 14.1 Level: HLGT Classification code 10021605 Term: Inborn errors of metabolism System Organ Class: 10027433 - Metabolism and nutrition disorders
Conditions
Interventions
Product Name: EPI-743
Product Code: NA
Pharmaceutical Form: Oral solution
CAS Number: 1213269-98-7
Current Sponsor code: EPI-743
Other descriptive name: Alpha-tocotrienol quinone
Concentration unit: m
Sponsors
EDISON PHARMACEUTICALS INC.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Diagnosis of Rett syndrome Stage 1-2 2.Abnormal disease biomarkers 3.Confirmed MeCP2 mutation 4.Patient or patient’s guardian able to consent and comply with protocol requirements 5.Abstention from use of Coenzyne Q10, vitamin E and Idebenone two weeks prior enrollment of treatment with EPI-743 Are the trial subjects under 18? yes Number of subjects for this age range: 20 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1.Any condition, which in the opinion of the investigator could compromise the subject’s safety or adherence to treatment with EPI-743 2.Clinically significant allergy or hypersensitivity to EPI-743 or to any of the excipients of with EPI-743 (eg., sesame oil) 3.Clinically significant allergy or hypersensitivity to VitaminE 4.Lack of confirmation of MeCP2 mutation 5.Clinical history of bleeding or abnormal baseline PT/PTT 6.Diagnosis of any other concurrent inborn error of metabolism 7.Hepatic insufficiency with LFTs greater than 3 times upper limit of normal 8.Renal insufficiency requiring dialysis 9.End stage cardiac failure 10.Fat malabsorption syndromes precluding drug absorption
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate the efficacy of EPI-743 in patients with Rett syndrome, on disease progression as assessed by the Rett Syndrome clinical Severity Score (RSSS);Secondary Objective: Efficacy.To evaluate the efficacy of EPI-743 in patients with Rett syndrome, on: 1.Head circumference 2.Behavior using Rett syndrome behavioral questionnaire 3.Health related quality of life as measured by the PedsQL 4.Disease biomarkers 5.EEG 6.Polysomnography Safety. To evaluate the safety of EPI-743 in patients with Rett syndrome by: absence of dose-limiting AE’s through 6 months, defined as any adverse event = grade 3, per CTCAE version 4.0, that is deemed related to treatment and not related to the underlying disease or the occurrence of any exclusion criteria including the following: 1.Allergy to EPI-743 or sesame oil 2.Liver Function tests greater than 3 times ULN 3.Renal insufficiency requiring dialysis;Primary end point(s): Change from baseline to end of treatment (Week 24, V6) in score of Rett Syndrome clinical Severity Scale (RSSS);Timepoint(s) of evaluation of this end point: At 12 weeks and at 24 weeks from baseline | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Efficacy. Change from baseline to end of treatment (Week 24, V6) in: 1.Head circumference 2.Level of disease biomarkers 3.Score of Rett syndrome behavioral questionnaire 4.Score of PedsQL questionnaire 5.EEG parameters 6.Polysomnography parameters Safety. Safety will be evaluated by abnormal liver function and hepatic function laboratory tests and serious and non serious adverse event assessments over the 24 weeks of study treatment.;Timepoint(s) of evaluation of this end point: Every 4 weeks | — |
Countries
Italy
Contacts
Public ContactProject Management
OPBG Clinical & Research Services srl
Outcome results
None listed