Thymidine Kinase 2 (TK2)
Conditions
Keywords
myopathy, muscle weakness, hypotonia, dysphagia, ptosis
Brief summary
This is a medical chart review study to collect information for patients who have been taking pyrimidine nucleosides for treatment of TK2 deficiency. Information from the time of onset of symptoms will be collected to describe the pre treatment course of TK2 deficiency.
Detailed description
Data to be collected from the time of onset of symptoms related to TK2 deficiency includes medical conditions and/or adverse events (AEs); these should include relationship to TK2 disease and/or pyrimidine nucleosides, as appropriate, as well as date of onset and severity, when available. When available, test reports may be obtained as well as available research biological samples (eg, blood or tissue samples that may be tested for biomarkers of disease and/or effects of medications to treat the mitochondrial disease).
Interventions
DRUGdC/dT
Collection of retrospective data from TK2 patients previously treated with dC/dT
Sponsors
Zogenix MDS, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
1. Signed informed consent by the patient or parent(s)/legally authorized representative (LAR) and/or assent by the patient (when applicable), unless the associated institutional review board (IRB) or ethics committee (EC) provides an appropriate consent waiver 2. Confirmed genetic mutation in the TK2 gene 3. Availability of medical records for each patient from the time of onset of symptoms 4. Patient has taken pyrimidine nucleos(t)ides (dCMP/dTMP and/or dC/dT) as substrate enhancement therapy for TK2 deficiency 5. Most recent patient visit at which efficacy and/or safety parameters were collected occurred between 01 June 2018 and 15 December 2018
Exclusion criteria
1\. Presence of other genetic disease or polygenic disease
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnosis | 3 months | genetic testing (previously conducted) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Clinical course | 3 months | BMI (height in inches and weight in kg will be combined to report BMI in kg/m\^2) |
| Motor function and ambulatory assessments | 3 months | Change in 6-minute walk test \[6MWT\] distance (in meters) |
Countries
Israel, Spain, United States
Outcome results
None listed