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Completed

NCT Number: NCT05017818

A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency

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

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Key information

Conditions

Thymidine Kinase 2 Deficiency Atrophy Metabolic Diseases Mitochondrial Diseases Muscle Weakness Muscular Atrophy Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neurologic Manifestations Neuromuscular Manifestations Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical Center Zdorovyy Rebenok, Voronezh, Voronezh Oblast, Russia

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.
  • Confirmed genetic mutations in the TK2 gene.
  • Availability of medical records or information pertaining to vital status at a minimum.

Exclusion criteria

Not applicable as this is a non-interventional study.

Treatment and study plan

Observational retrospective data

Other

Non-intervention

Primary outcomes

  1. Number of participants who have died.

    Time frame: 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 outcomes

  1. Change from baseline in development motor milestones.

    Time frame: 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

  2. Change from baseline in feeding support.

    Time frame: 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.

  3. Change from baseline in respiratory support.

    Time frame: 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.

  4. Clinical Global Impression of Improvement (CGI-I).

    Time frame: 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.

  5. 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).

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Zogenix MDS, Inc.

Industry

Registry information

Official study 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

Important dates

Study start
2021
Primary completion
2022
Study completion
2022
First posted
Aug 24, 2021
Registry last updated
Sep 1, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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