Alternating Hemiplegia of Childhood
Conditions
Keywords
QTc, Cardiac repolarization and arrhythmia, ECG, Alternating Hemiplegia
Brief summary
Alternating Hemiplegia of Childhood (AHC) is a rare and severe disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, frequently severe developmental and psychiatric/psychological disabilities and other comorbidities, such as cardiac disturbances. Recent data indicate that AHC genotype is in relation to cardiac repolarization troubles and to cardiac arrhythmias. The primary hypothesis to explore is that there is an association between genotype and cardiac phenotype in AHC.
Interventions
OTHERRecording of clinical parameters and electrocardiogram parameters
Retrospective recording of demographic information (age, sex, age at diagnosis), genetic information, cardiological information, pharmacological treatments, electrocardiogram data. All above data will be deidentified.
Sponsors
Hospices Civils de Lyon
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
12 Months to No maximum
Healthy volunteers
No
Inclusion criteria
* Patients that meet the clinical diagnostic criteria (Aicardi et al, 1995) for typical alternating hemiplegia with or without identified mutations in ATP1A3. * At least one ECG study is required. * Patients ages yearand more
Exclusion criteria
* Informed consent or assent not obtainable * ATP1A3 testing not performed * No ECG studies are available
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of QTc interval and all relevant cardiac repolarization measurements | Day 1 | Outcome measure: QTc interval and cardiac repolarization measurement in milliseconds. |
Countries
France
Outcome results
None listed