Intravenous Immunoglobulin for Unverricht-Lundborg Disease.

Study Overview
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Brief Summary
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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
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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.

Official Title
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Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial.

Conditions
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Unverricht-Lundborg Disease

Intervention / Treatment
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* Drug: Intravenous immunoglobulin


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Malattia di Unverricht-Lundborg (genetic diagnosis) Exclusion Criteria: Contraindications to intravenous immunoglobulin

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 25 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Crossover Assignment
Interventional Model Description: sigle patient trial
Masking: Quadruple


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Immunoglobulin<br>Intravenous immunoglobulin 25 grams (five 100 ml bottles, 5g/100ml), in 3 hours, once a month for one year. | Drug: Intravenous immunoglobulin<br>* Intravenous drip.<br>* Other names: Venital;|
| Placebo Comparator: Saline solution<br>Intravenous saline solution 500 ml (five 100 ml bottles), in 3 hours, once a month for one year. | Drug: Intravenous immunoglobulin<br>* Intravenous drip.<br>* Other names: Venital;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Improvement of at least 20% of the action myoclonus at one year, measured with section 4 (Action Myoclonus) of the Unified Myoclonus Rating Scale. | 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). | monthly for one year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Unified Myoclonus Rating Scale (UMRS) overall score improvement. | 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). | monthly for one year | 
| Patient's preference | 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. | one year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Unverricht-Lundborg disease, progressive myoclonus epilepsy, pharmacoresistant epilepsy