Thymidine Kinase 2 DeficiencyNCT05017818
A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency
An observational study of Thymidine Kinase 2 Deficiency, run by Zogenix MDS, Inc. at 12 sites in 4 countries.
Trial summary
This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Thymidine Kinase 2 Deficiency
- What is being tested?
- Observational retrospective data
- How many people
- 61 participants
- Where
- 12 sitesin 4 countries
- Study dates
- 23 Jul 2021to 21 Jan 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Thymidine Kinase 2 deficiency
Who may be able to join
- 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.
Who cannot join
- Not applicable as this is a non-interventional study.
Trial locations and contacts
12 sites in 4 countries.
12 sites in 4 countries
United States4 sites
Akron Children's Hospital
Akron, Ohio, 44308
Indiana University School of Medicine
Indianapolis, Indiana, 46202
East Tennessee Childrens Hospital
Knoxville, Tennessee, 37916
David Geffen School of Medicine at UCLA
Los Angeles, California, 90095
Spain4 sites
Vall d'Hebron Institut de Recerca
Barcelona, 08035
Hospital Clínic Barcelona
Barcelona, 08036
Hospital de la Santa Creu i Sant Pau
Barcelona, 08041
Hospital Universitario 12 de Octubre
Madrid, 28041
Russia2 sites
NIKI Pediatrii im Veltischeva, Children's Neuromuscular center
Moscow, 125412
Medical Center Zdorovyy Rebenok
Voronezh, Voronezh Oblast, 394077
Turkey (Türkiye)2 sites
Istanbul Universitesi, Istanbul Tip Fakultesi
Fatih, Istanbul, 34093
Yeditepe University Koşuyolu Hospital
Kadiköy, 34178
About this study
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
This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).
Read the 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.
- Conditions
- Thymidine Kinase 2 Deficiency
- Being tested
- Observational retrospective data
- Keywords
- TK2D, mitochondrial disorder, mitochondrial disease, mitochondria, primary mitochondrial myopathy, mitochondrial depletion syndrome, muscle weakness, muscle atrophy, loss of mobility
- Medical subject headings
- Mitochondrial Diseases, Muscle Weakness, Muscular Atrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational retrospective dataOther
Non-intervention
| Study group | Role | What they receive |
|---|---|---|
| Treated and untreated subjects with TK2 deficiency | Two TK2 deficiency groups. (1) Subjects treated with chemical-grade dCMP/dTMP, dC/dT, and/or MT1621 outside of a Modis sponsored study. (2) Subjects not treated with chemical-grade dCMP/dTMP, dC/dT, and/or MT1621 outside of a Modis sponsored study. Receives: Other: Observational retrospective data |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants who have died.
Participant date of death or date last known alive.
Measured: 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 outcomes (5)
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
Measured: 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.
Change from baseline in feeding support.
Feeding support includes gastrostomy tube or nasogastric tube.
Measured: 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.
Change from baseline in respiratory support.
Respiratory support includes non-invasive ventilation (e.g. bi-level positive airway pressure [Bi-PAP]) and mechanical ventilation.
Measured: 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.
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.
Measured: 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.
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.
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Aug 2021
- Study start23 Jul 2021
- Primary completion21 Jan 2022
- Study completion21 Jan 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Thymidine Kinase 2 DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Retrospective
- Enrolment
- 61 participants (actual)
Sponsor and investigators
- Lead sponsor
- Zogenix MDS, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- UCB Cares, MD, Study director, 001 844 599 2273
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05017818
- Sponsor's protocol ID
- MT-1621-107
- Status last verified
- Aug 2023
- First submitted
- 12 Jul 2021
- Last updated
- 1 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT05017818
- Acronym / sponsor ID
- MT-1621-107
- Conditions
- Thymidine Kinase 2 Deficiency
- Keywords
- TK2D, mitochondrial disorder, mitochondrial disease, mitochondria, primary mitochondrial myopathy, mitochondrial depletion syndrome, muscle weakness, muscle atrophy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 61 participants (actual)
- Lead sponsor
- Zogenix MDS, Inc.Industry (pharma, biotech, devices)
- Study start
- 23 Jul 2021 (actual)
- Primary completion
- 21 Jan 2022 (actual)
- Study completion
- 21 Jan 2022 (actual)
- First posted
- 24 Aug 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Treated and untreated subjects with TK2 deficiency | – | Other: Observational retrospective dataTwo TK2 deficiency groups. (1) Subjects treated with chemical-grade dCMP/dTMP, dC/dT, and/or MT1621 outside of a Modis sponsored study. (2) Subjects not treated with chemical-grade dCMP/dTMP, dC/dT, and/or MT1621 outside of a Modis sponsored study. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Thymidine Kinase 2 deficiency
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Not applicable as this is a non-interventional study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational retrospective dataNon-intervention | Other | Treated and untreated subjects with TK2 deficiency |
Primary outcome
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.
5 secondary outcomes
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.
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.
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.
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.
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Sep 2023.
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Active, not recruitingPhase 1/2
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
UCB Cares, MD study director
001 844 599 2273
12 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Thymidine Kinase 2 Deficiency, run by Zogenix MDS, Inc. at 12 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in United States, Spain, Russia, Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Sep 2023.