E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Myotonia is a symptom seen certain inherited muscle dystrophies and pure channelopathies (Dystrophia myotonica type 1 and 2, Myotonia Congenita, Paramyotonia Congenita, Hyperkalæmisk periodic paralysis and Potassium-Aggravated myotonia). Genetically, mutations in chloride, sodium or calcium ion channels in the muscle is present. Myotonia manifests during physical activity where the muscle can locks in the middle of a movement. Patients are limited in their physical as well as social activities. |
|
E.1.1.1 | Medical condition in easily understood language |
Myotonia is a functional limiting symptom where the muscle stiffens on action leading to arrest of movement. Patients experience falls, arrest of chewing and many other troubles. |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Musculoskeletal Diseases [C05] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 14.1 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10061533 |
E.1.2 | Term | Myotonia |
E.1.2 | System Organ Class | 10029205 - Nervous system disorders |
|
E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
Document that Lamotrigin is an effective treatment of myotonia |
|
E.2.2 | Secondary objectives of the trial |
|
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
1 Age over 18 years, both men and women.
2 Clinical myotoni: Myotoni that affect patient performance of activities of daily living (chewing function, handshake initiation of walking and running or to let go of objects) or patients who are treated with antimyotom medicine.
3 Gen-verified diagnosis with either myotonia Congenita, Paramyotonia Congenita, Potassium-Aggravated myotonia and dystrophy Myotonica type 1
4 Signed written informed consent. |
|
E.4 | Principal exclusion criteria |
1 In treatment with medicines affecting the study results, estimated by the investigators. Or participated in the drug trial within 30 days prior to study start.
2 Known intolerance or allergy to Lamotrigine.
3 Significant renal or liver function, epilepsy, or long QT interval on the ECG.
4 Pregnancy and breast-feeding.
5 After the investigators discretion.
Mexiletine treatment within 60 hours before study start and serum Mexilitin in therapeutic level will defer study start. |
|
E.5 End points |
E.5.1 | Primary end point(s) |
Patient Evaluated muscle stiffness assessed by Myotonia Behavior scale (MBS) |
|
E.5.1.1 | Timepoint(s) of evaluation of this end point |
Evaluated 4-7 days in before treatment, at dosis 150 mg, and at dosis 300 mg. |
|
E.5.2 | Secondary end point(s) |
1) clinical evaluation of Myotonia by four test: eye-opening, hand-grip, 14-step-stair, and time-up-and-go (TUG).
2) Use of escape medicin
3) health questionnaire (SF-36) |
|
E.5.2.1 | Timepoint(s) of evaluation of this end point |
1) before treatment, after dosis 150 mg and after dosis 300 mg
2) doing treatment periods (10 weeks)
3) before and after a treatment period |
|
E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | No |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | Yes |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | Yes |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | Yes |
E.8.1.1 | Randomised | Yes |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | Yes |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | Yes |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | Yes |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 2 |
E.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
|
|
E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 2 |
E.8.9.1 | In the Member State concerned months | 1 |
E.8.9.1 | In the Member State concerned days | 0 |