Status:
RECRUITING
Prospective, Long Term, Observational Study (Patient Registry) of Paediatric Myotonic Disorders
Lead Sponsor:
Lupin Ltd.
Conditions:
Myotonic Disorders
Eligibility:
All Genders
Up to 6 years
Brief Summary
This is a prospective, open-label, multi-centre, single arm, registry study to collect standard relevant clinical and epidemiological data during routine medical evaluation and treatment in paediatric...
Detailed Description
This is a prospective, open-label, multi-centre, single arm, registry study to collect standard relevant clinical and epidemiological data during routine medical evaluation and treatment in paediatric...
Eligibility Criteria
Inclusion
- Male or female patients from birth to less than 6 years
- A genetically confirmed diagnosis of NDM or DM (DM1or DM2), as per the treating clinician.
- Presence of clinical symptoms of myotonia (hand grip myotonia, myotonia in the leg muscles, any other myotonia symptoms) to be confirmed by the treating clinician.
- Patients already receiving mexiletine treatment or who are clinically considered for mexiletine treatment as per the treating physician judgement.
- No history of or significant cardiac abnormalities as determined by a cardiologist's assessment of the ECG and echocardiogram performed prior to enrolment in the study or as per the treating physician standard of care (NaMuscla SmPC, 2023)
- No known history or signs and symptoms of any significant liver disorder as per treating physician.
- No known clinically relevant abnormal laboratory investigations for haematology, biochemistry, and urinalysis values at screening (or based on values obtained within 3 months prior to screening in patient's medical record) that could affect the study objectives as judged by the treating physician.
- Parent or legal guardian able to provide consent/assent to study participation and to sign the written informed consent or non-opposition as per local regulatory requirements prior to study entry and perform any study-related activity. -
Exclusion
- Any contraindication to mexiletine as listed in the Namuscla Summary of Product Characteristics (SmPC) (NaMuscla SmPC, 2023)
- Hypersensitivity to the active substance, or to any of the excipients
- Hypersensitivity to any local anaesthetic
- Ventricular tachyarrhythmia
- Complete heart block (i.e., third-degree atrioventricular block) or any heart block susceptible to evolve to complete heart block (first-degree atrioventricular block with markedly prolonged PR interval (≥ 200 ms) and/or wide QRS complex (≥ 120 ms), second-degree atrioventricular block, bundle branch block, bifascicular and trifascicular block),
- QT interval \> 450ms
- Myocardial infarction (acute or past), or abnormal Q-waves
- Symptomatic coronary artery disease
- Heart failure with ejection fraction \<50%
- Atrial tachyarrhythmia, fibrillation or flutter
- Sinus node dysfunction (including sinus rate \< 50 bpm)
- Co-administration with medicinal products inducing torsades de pointes.
- Co-administration with medicinal products with narrow therapeutic index
- Any other neurological or psychiatric condition that might affect the study assessments, as per the treating clinician.
- Any clinically significant illness, laboratory findings, ECG, or other clinical symptoms, which in the opinion of the treating physician could affect the patient's optimal participation in the study
- Receiving strong inducers or inhibitors of CYP2D6 or CYP1A2 or planned to receive them, during the subject participation (See section 4.1.5.1 Prohibited medications).
- Any concurrent illness, or medications which could affect the muscle function, and confound the results according to the treating physician.
- Seizure disorder, diabetes mellitus requiring treatment by insulin.
Key Trial Info
Start Date :
September 30 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
February 22 2028
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT07154654
Start Date
September 30 2025
End Date
February 22 2028
Last Update
September 23 2025
Active Locations (1)
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1
Centre Hospitalier Universitaire de Clermont-Ferrand
Clermont-Ferrand, France