A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency

NCT05017818 | Completed

• 1 other identifier: MT-1621-107
• Study Type: observational
• Target: 61
• Locations: 4 countries
• Sites: 12

Brief Summary

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

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• 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.

• 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.

• 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.

• 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.

• 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.

Study Arms (1)

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.

Other: Observational retrospective data

Interventions

Observational retrospective data OTHER

Non-intervention

Treated and untreated subjects with TK2 deficiency

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Thymidine Kinase 2 deficiency

You may qualify if:

• 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.

You may not qualify if:

• Not applicable as this is a non-interventional study.

Sponsors & Collaborators

• Zogenix MDS, Inc.: lead

Study Sites (12)

David Geffen School of Medicine at UCLA

Los Angeles, California, 90095, United States

Location

Indiana University School of Medicine

Indianapolis, Indiana, 46202, United States

Location

Akron Children's Hospital

Akron, Ohio, 44308, United States

Location

East Tennessee Childrens Hospital

Knoxville, Tennessee, 37916, United States

Location

Medical Center Zdorovyy Rebenok

Voronezh, Voronezh Oblast, 394077, Russia

Location

NIKI Pediatrii im Veltischeva, Children's Neuromuscular center

Moscow, 125412, Russia

Location

Vall d'Hebron Institut de Recerca

Barcelona, 08035, Spain

Location

Hospital Clínic Barcelona

Barcelona, 08036, Spain

Location

Hospital de la Santa Creu i Sant Pau

Barcelona, 08041, Spain

Location

Hospital Universitario 12 de Octubre

Madrid, 28041, Spain

Location

Istanbul Universitesi, Istanbul Tip Fakultesi

Fatih, Istanbul, 34093, Turkey (Türkiye)

Location

Yeditepe University Koşuyolu Hospital

Kadiköy, 34178, Turkey (Türkiye)

Location

MeSH Terms

Conditions

Mitochondrial Diseases; Muscle Weakness; Muscular Atrophy

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Atrophy; Pathological Conditions, Anatomical

Study Officials

• UCB Cares, MD

  001 844 599 2273

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 12, 2021
• First Posted: August 24, 2021
• Study Start: July 23, 2021
• Primary Completion: January 21, 2022
• Study Completion: January 21, 2022
• Last Updated: September 1, 2023

Record last verified: 2023-08

Locations

RU (2); US (4); TU (2); ES (4)