Brief Title
An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
Official Title
An Open Label, Exploratory Study to Investigate the Treatment Effect og Glatiramer Acetate (Copaxone ®) on Girls Woth Rett Syndrome
Brief Summary
Primary Objective: To test the hypothesis that 6 months treatment with glatiramer acetate
(GA) decreases epileptiform activity in young girls with Rett syndrome.
Primary Safety Objective:To evaluate the safety and tolerability of 6 months treatment with
GA in these patients.
Secondary Objectives:
1. To test the hypothesis that 6 months treatment with glatiramer acetate (GA) improves
respiratory dysfunction.
2. To evaluate the effect of GA treatment on general behaviour communication, hand
stereotyping, feeding, sleep and other autonomic symptoms: gastrointestinal and cardiac.
3. To assess the effect of GA treatment on bodily development.
Primary Endpoint:Improvement of epileptiform activity as recorded in a 24-hours EEG.
Primary Safety Endpoint:Frequency and severity of treatment-related AEs (including safety lab
parameters).
Secondary Endpoints:
1. Improvement in the scoring of breath holds and hyperventilation, as measured with
non-invasive respiratory inductance plethysmography (NoxT3 device) and parents' diaries.
2. Changes in general behaviour, communication, feeding and motor skills as assessed by the
investigator (based on Kerr and Naidu validated severity scores) and recorded in
parents' diary.
3. Decrease in seizure frequency as reported in parents' diary.
4. Improvement in sleep schedule as recorded in a sleep diary.
5. Change in height and weight. Population:Ten girls, 6 to 15 years old, diagnosed with
Rett syndrome (RTT) Study Design:This is a single - center, exploratory, open-label,
study in 10 girls diagnosed with RTT. The study will consist of four parts: Screening
and baseline assessments, initial and final dose-setting period, treatment period and
end-of study follow-up.
Investigational Product:Glatiramer Acetate (Copaxone® , Teva Pharmaceutical Industries Ltd.)
Sample Size Consideration: The planned sample size of 10 patients was considered adequate by
the investigator for this phase I exploratory proof-of-concept study. The study is not
expected to show statistical significance or statistical power, only a trend for the study
endpoints. Each patient will serve as her own control.
Duration of Study: Approximately 8 months per patient (including up to 2 weeks pre-treatment
assessment, 6 months initial dose and treatment periods and end-of study visit).
Overall study duration: the study is expected to be completed within 12 months (dependent on
rate of recruitment).
Study Phase
Phase 1
Study Type
Interventional
Primary Outcome
Improvement of epileptiform activity as recorded in a 24-hours EEG.
Secondary Outcome
1.Improvement in the scoring of breath holds and hyperventilation, as measured with non-invasive respiratory inductance plethysmography (NoxT3 device) and parents' diaries.
Condition
Rett Syndrome
Intervention
Glatiramer Acetate (Copaxone®)
Study Arms / Comparison Groups
Copaxone
Description: Glatiramer Acetate (Copaxone® , Teva Pharmaceutical Industries Ltd.) 20 mg daily or in an interval determined in the Dose Setting period. Administration will be subcutaneous to various areas on the body: back of the upper arms (2 areas), front and outside of thighs (2 areas), upper buttocks/rear hips (2 areas), and stomach (the abdomen).
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Drug
Estimated Enrollment
10
Start Date
January 2014
Completion Date
February 2015
Primary Completion Date
September 2014
Eligibility Criteria
Inclusion Criteria:
1. Females, age 6-15 years (inclusive).
2. Patients whose parents or legal custodians have provided written informed consent to
participate in the study.
3. A diagnosis of RTT (classical or variant), defined according to the internationally
agreed 2010 RetSearch criteria [4].
4. Evidence of a genetically defined pathological change in the MECP2 gene (point
mutation or deletion)
5. Patients with known epileptiform activity as recorded on EEG.
6. Blood pressure and heart rate within normal limits (blood pressure: systolic 90-140
mmHg; diastolic 50-90 mmHg, heart rate 40-120 beats per minute
7. An electrocardiogram (ECG) which, according to the Investigator's judgment does not
contraindicate participation in the study.
8. No clinically significant abnormalities in haematology, blood chemistry lab tests at
screening.
9. Parents must be able to understand the requirements of the study and must be willing
to comply with the requirements of the study
Exclusion Criteria:
1. Any medical problem or chronic illness beyond those known to be associated with Rett
Syndrome which, in the investigator's judgment, contraindicates administration of the
study medication.
2. Severe respiratory dysfunction (defined as tracheostomy and/or chronic oxygen therapy
at least 4 hours a day and/or repeated aspiration pneumonia - at least 4 in the last
year).
3. Intractable seizures that started during the last 6 months prior to beginning of the
study.
4. Known hypersensitivity to glatiramer or mannitol.
5. Participation in another clinical study.
6. Parents of a patient who are unable to communicate well with the investigator and
staff and comply with study procedures and follow-up
7. Parents of a patient who are unwilling to sign consent form.
Gender
Female
Ages
6 Years - 15 Years
Accepts Healthy Volunteers
No
Contacts
Bruria Ben Zeev, prof., +972 3 5302687, [email protected]
Location Countries
Israel
Location Countries
Israel
Administrative Informations
NCT ID
NCT02023424
Organization ID
SHEBA-12-9855-BBZ-CTIL
Responsible Party
Principal Investigator
Study Sponsor
Sheba Medical Center
Study Sponsor
Bruria Ben Zeev, prof., Principal Investigator, Sheba Medical Center
Verification Date
February 2014