Effect of Theophylline on ADCY5 Activation - From Cellular Studies to Improved Therapeutic Options for ADCY5-Related Dyskinesia Patients

Not Applicable

• Conditions: G24.1; Idiopathic familial dystonia

• Registration Number: DRKS00029154
• Lead Sponsor: niversitätsklinikum Leipzig

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-06-03
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 1

Inclusion Criteria

ADCY5 mutation genetically proven

Exclusion Criteria

Contraindicatins against theophylline treatment

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
evel of dystonia / dyskinesia:<br>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 Outcome Measures

Name	Time	Method
Quality of sleep: Duration of falling asleep, duration of total sleep, restlessness, frequency of awakenings are assessed. <br>Reaching motor milestones: walking distance and ability and endurance to stand freely, hand / arm dexterity in fine motor tasks is quantified.