G24.1
Conditions
Interventions
Group 1: Theophylline in increasing dose, starting with about 7 mg/kg/day up to about 20 mg/kg/day orally taken.
Theophylline was dosed up over a period of 6 months, with a dose increase of approxim
Sponsors
Universitätsklinikum Leipzig
Eligibility
Sex/Gender
All
Age
2 Years to 60 Years
Inclusion criteria
Inclusion criteria: ADCY5 mutation genetically proven
Exclusion criteria
Exclusion criteria: Contraindicatins against theophylline treatment
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Level of dystonia / dyskinesia: the symptomatology is assessed separately according to episodic and permanent symptoms (in ADCY5-associated dystonia there are both entities). For episodic symptoms, we quantify frequency and temporal duration of symptoms. For the permanent symptoms, we use a parent assessment by a Likert scale 0-10 (no improvement to no symptoms). Additionally, analogous to the Rush Dyskinesia Rating Scale (RDRS as a clinically used instrument), we assess how much the symptomatology interferes with the activities of daily living (from not at all to activity not possible, e.g. walking freely). | — |
Secondary
| Measure | Time frame |
|---|---|
| Quality of sleep: Duration of falling asleep, duration of total sleep, restlessness, frequency of awakenings are assessed. Reaching motor milestones: walking distance and ability and endurance to stand freely, hand / arm dexterity in fine motor tasks is quantified. | — |
Countries
Germany
Contacts
Public ContactAndreas Merkenschlager
Klinik und Poliklinik für Kinder und Jugendliche, Universität Leipzig
Outcome results
None listed