Unverricht-Lundborg Disease
Conditions
Keywords
Unverricht-Lundborg disease, progressive myoclonus epilepsy, pharmacoresistant epilepsy
Brief summary
Single patient randomized double blind trial to assess whether intravenous immunoglobulin can improve the clinical outcome of a case suffering from Unverricht-Lundborg disease.
Detailed description
Single patient randomized double blind trial to assess whether intravenous immunoglobulin can improve the clinical outcome of a case suffering from Unverricht-Lundborg disease (clinical and genetic diagnosis). The patient was randomized to be treated with intravenous immunoglobulin or placebo 1:1 (crossover) once a month for at least one year. Main objective: improvement of the action myoclonus. Secondary objectives: Improvement in the overall score and in individual sections of the Unified Myoclonus Rating Scale at one year; patient preferences based on results at the end of the trial. The first analyst was scheduled at one year from the start of the trial. The program was to discuss the patient's analysis data and to let the patient decide in three possible ways: to continue the trial, to continue treatment with immunoglobulins, to suspend the treatment. Depending on the decision, it was planned to follow the patient throughout the year after the analysis, at least for one year.
Interventions
DRUGIntravenous immunoglobulin
Intravenous drip.
Sponsors
Azienda Socio Sanitaria Territoriale di Mantova
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Masking description
Drug and placebo had the same appearance and are wrapped in foil paper before being shown to the patient. Outcome evaluation is carried out by personnel not involved in the treatment at a distant site, one month after treatment.
Intervention model description
sigle patient trial
Eligibility
Sex/Gender
MALE
Age
18 Years to 25 Years
Healthy volunteers
No
Inclusion criteria
* Malattia di Unverricht-Lundborg (genetic diagnosis)
Exclusion criteria
* Contraindications to intravenous immunoglobulin
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Improvement of at least 20% of the action myoclonus at one year, measured with section 4 (Action Myoclonus) of the Unified Myoclonus Rating Scale. | monthly for one year | The range for Action Myoclonus Score is 0 (best) - 160 (worst, , i.e. more severe involuntary movements). Percent change = 100 X (Placebo UMRS4 - Treatment UMRS4) / Placebo UMRS4). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Unified Myoclonus Rating Scale (UMRS) overall score improvement. | monthly for one year | The total value of the UMRS (range from 0 - best - to 365 - worst) is composed of the sum of 6 sections: (1) Patient Questionnaire (range 0-48), (2) Myoclonus at rest (range 0-108), (3) Stimulus Sensitivity (range 0-17), (4) Myoclonus with Action (range 0-160), (5) Functional Tests (0-28), (6) Global Disability Score (range 0-4). |
| Patient's preference | one year | The program was to discuss the patient's analysis data with the patient himself and to let him decide in three possible ways: (1) to continue the trial, (2) to continue treatment with immunoglobulins, (3) to suspend the treatment.The choice number 2 is considered a favorable outcome. |
Outcome results
None listed