Prospective, Long Term, Observational Study (Patient Registry) of Paediatric Myotonic Disorders
ConditionMyotonic Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 6
SponsorLupin Ltd.
About this trial
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 patients with myotonic disorders who are being treated with mexiletine therapy according to the physician.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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
Trial population
The study population will include male and female children from birth to less than 6 years of age with clinical symptoms or signs of myotonic disorders, normal electrocardiogram (ECG) exam and genetic confirmation of the diagnosis i.e., non-dystrophic myotonia (NDM), or myotonic dystrophy (DM) type 1 (DM1), or DM type 2 (DM2), and who comply with the inclusion / exclusion criteria. Patients will be enrolled consecutively at each site in order to minimize selection bias
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Mexiletine
DrugNon interventional
Treatment groups
10 Participants
are divided into 2 treatment groupsGroup A: Cohort 11 intervention
Group B: Cohort 21 intervention
Trial outcomes
Primary outcomes
1
To assess long-term safety by collection of SAEs, AEs, AESIs, changes in frequency, treatment interruptions
Number and frequency of adverse events (AEs), serious adverse events (SAEs) and AE leading to treatment discontinuation, throughout the study while on treatment with mexiletine; Incidence of adverse events of special interest (AESI), namely: Severe Cutaneous Adverse Reactions (SCARs) \& Cardiac arrhythmia. Increased frequency of seizure episodes in patients with epilepsy; Any changes in frequency, treatment interruptions of mexiletine
Time frame
Baseline to 24 monthsSecondary outcomes
1
To assess the suitability of mexiletine administration
To assess the suitability of mexiletine administration using available formulations including, where appropriate, capsules or opening and sprinkling contents in food or drink according to the child´s age (from birth to less than 6 years) and ability to swallow.
Time frame
Baseline to 24 months2
To understand how mexiletine is used by clinicians
To understand how mexiletine is used by clinicians who have previously decided to use mexiletine for the treatment of myotonia in myotonic disorder patients, from birth to less than 6 years over a at least 2 years period, to establish risk:benefit conclusions.
Time frame
Baseline to 24 months3
Description over time of outcomes of mexiletine use
Description over time of outcomes of mexiletine use including dosing, formulation used, method of administration, acceptability and palatability as per the data collected by the treating physician according to age and cohort.
Time frame
Baseline to 24 months4
The treating physician with elaborate a brief text with risk-benefit conclusions
Description over time of any efficacy outcomes obtained from clinically indicated tests as per the treating physician typical clinical practice and according to patient's age and cohort.
Time frame
Baseline to 24 monthsOther outcomes
1
Description over time of any efficacy outcomes
Description over time of any efficacy outcomes obtained from clinically indicated tests as per the treating physician typical clinical practice and according to patient's age and cohort.
Time frame
Baseline to 24 months2
Clinical Global Impression (CGI) Scores
Clinical Global Impression (CGI) Scores given to caregivers and assessed by the investigators. Efficacy will be evaluated on a 4-point scale as very efficient, good, fair or poor.
Time frame
Baseline to 24 months Source ClinicalTrials.gov