Thymidine Kinase 2 Deficiency
Conditions
Keywords
TK2D, mitochondrial disorder, mitochondrial disease, mitochondria, primary mitochondrial myopathy, mitochondrial depletion syndrome, muscle weakness, muscle atrophy, loss of mobility
Brief summary
This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).
Detailed description
This is a retrospective, chart-review study. The primary goal is to use data on survival and other related information to support a comprehensive evaluation of patients with Thymidine Kinase 2 deficiency (TK2d) who have not been treated with pyrimidine nucleos(t)ides including deoxycytidine monophosphate/deoxythymidine monophosphase (dCMP/dTMP), and deoxycytidine/deoxythymidine (dC/dT), and/or MT1621(dC/dT), and those that have received one or more of these treatments. The secondary goals of this study will focus on describing the participant's clinical course and treatment experience.
Interventions
OTHERObservational retrospective data
Non-intervention
Sponsors
Zogenix MDS, Inc.
Study design
Observational model
OTHER
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
1. Signed informed consent by the subject or parent(s)/LAR and/or assent by the subject (when applicable), unless the associated IRB or EC provides an appropriate consent waiver that allows review of medical records for this study. 2. Confirmed genetic mutations in the TK2 gene. 3. Availability of medical records or information pertaining to vital status at a minimum.
Exclusion criteria
Not applicable as this is a non-interventional study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of participants who have died. | Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first. | Participant date of death or date last known alive. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline in development motor milestones. | Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first. | Modified motor milestones as defined by World Health Organization include: Ability to Hold head upright, unassisted; Ability to roll from supine to sides; Ability to sit upright, unassisted; Ability to sit upright, slightly assisted; Ability to raise self and stand; Ability to stand, unassisted; Ability to stand, assisted; Ability to walk, unassisted; Ability to walk, assisted; Ability to climb stairs, unassisted; Ability to climb stairs, assisted; Ability to jump; Ability to hop; Ability to run |
| Change from baseline in feeding support. | Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first. | Feeding support includes gastrostomy tube or nasogastric tube. |
| Change from baseline in respiratory support. | Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first. | Respiratory support includes non-invasive ventilation (e.g. bi-level positive airway pressure \[Bi-PAP\]) and mechanical ventilation. |
| Clinical Global Impression of Improvement (CGI-I). | Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first. | The CGI-I is a 7-point Likert scale would have been conducted by a physician or trained rater at a clinic visit to establish overall clinical change. |
| Number of participants with treatment-emergent adverse events (AEs) or serious adverse events (SAEs) that cause a decrease in dose or a stop in dosing (temporary or permanent). | Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first. | An AE is any untoward medical occurrence in a participant that was receiving treatment without regard to causal relationship. An SAE is an AE resulting in any of the following outcomes or deemed significant for any other reason: death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying), persistent or significant disability/incapacity, congenital anomaly. SAEs were AEs excluding non-serious AEs. |
Countries
Russia, Spain, Turkey (Türkiye), United States
Outcome results
None listed