Clinical trial NCT05017818: A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency
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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Thymidine Kinase 2 Deficiency
Keywords: TK2D
mitochondrial disorder
mitochondrial disease
mitochondria
primary mitochondrial myopathy
mitochondrial depletion syndrome
muscle weakness
muscle atrophy
loss of mobility
Lead sponsor: UCB Pharma
Sponsor class: INDUSTRY
First posted: 2021-08-24
Enrollment: 61
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Thymidine Kinase 2 deficiency

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Number of participants who have died.
timeFrame: 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:
measure: Change from baseline in development motor milestones.
timeFrame: 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.
measure: Change from baseline in feeding support.
timeFrame: 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.
measure: Change from baseline in respiratory support.
timeFrame: 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.
measure: Clinical Global Impression of Improvement (CGI-I).
timeFrame: 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.
measure: 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).
timeFrame: 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.
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: David Geffen School of Medicine at UCLA
state: California
city: Indianapolis
country: United States
facility: Indiana University School of Medicine
state: Indiana
city: Akron
country: United States
facility: Akron Children's Hospital
state: Ohio
city: Knoxville
country: United States
facility: East Tennessee Childrens Hospital
state: Tennessee
city: Voronezh
country: Russian Federation
facility: Medical Center Zdorovyy Rebenok
state: Voronezh Oblast
city: Moscow
country: Russian Federation
facility: NIKI Pediatrii im Veltischeva, Children's Neuromuscular center
city: Barcelona
country: Spain
facility: Vall d'Hebron Institut de Recerca
city: Barcelona
country: Spain
facility: Hospital Clínic Barcelona
city: Barcelona
country: Spain
facility: Hospital de la Santa Creu i Sant Pau
city: Madrid
country: Spain
facility: Hospital Universitario 12 de Octubre
city: Fatih
country: Turkey
facility: Istanbul Universitesi, Istanbul Tip Fakultesi
state: Istanbul
city: Kadiköy
country: Turkey
facility: Yeditepe University Koşuyolu Hospital
Study officials:
affiliation: 001 844 599 2273
name: UCB Cares, MD
role: STUDY_DIRECTOR
References: