A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency

Thymidine Kinase 2 Deficiency Clinical Trial

Official title:

A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency Treated With the Combination of Pyrimidine Nucleos(t)Ides as Well as Untreated Subjects to Collect Vital Status Data and Supporting Information

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05017818
• Other study ID #: MT-1621-107
• Status: Completed
• Start date: July 23, 2021
• Est. completion date: January 21, 2022

Study information

• Verified date: August 2023
• Source: UCB Pharma
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 61
• Est. completion date: January 21, 2022
• Est. primary completion date: January 21, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Thymidine Kinase 2 Deficiency

Intervention

Other:
• Observational retrospective data
Non-intervention

Locations

Country	Name	City	State
Russian Federation	NIKI Pediatrii im Veltischeva, Children's Neuromuscular center	Moscow
Russian Federation	Medical Center Zdorovyy Rebenok	Voronezh	Voronezh Oblast
Spain	Hospital Clínic Barcelona	Barcelona
Spain	Hospital de la Santa Creu i Sant Pau	Barcelona
Spain	Vall d'Hebron Institut de Recerca	Barcelona
Spain	Hospital Universitario 12 de Octubre	Madrid
Turkey	Istanbul Universitesi, Istanbul Tip Fakultesi	Fatih	Istanbul
Turkey	Yeditepe University Kosuyolu Hospital	Kadiköy
United States	Akron Children's Hospital	Akron	Ohio
United States	Indiana University School of Medicine	Indianapolis	Indiana
United States	East Tennessee Childrens Hospital	Knoxville	Tennessee
United States	David Geffen School of Medicine at UCLA	Los Angeles	California

Sponsors (1)

Lead Sponsor	Collaborator
Zogenix MDS, Inc.

Countries where clinical trial is conducted

United States,  Russian Federation,  Spain,  Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of participants who have died.	Participant date of death or date last known alive.	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.
Secondary	Change from baseline in development motor milestones.	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	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.
Secondary	Change from baseline in feeding support.	Feeding support includes gastrostomy tube or nasogastric tube.	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.
Secondary	Change from baseline in respiratory support.	Respiratory support includes non-invasive ventilation (e.g. bi-level positive airway pressure [Bi-PAP]) and mechanical ventilation.	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.
Secondary	Clinical Global Impression of Improvement (CGI-I).	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.	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.
Secondary	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).	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.	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.