MODIS: Thymidine Kinase 2 Deficiency
Research type
Research Study
Full 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
IRAS ID
292179
Contact name
Mr Paul Hoskins Hoskins
Contact email
Sponsor organisation
Modis Therapeutics, Inc. (A wholly-owned subsidiary of Zogenix, Inc.)
Clinicaltrials.gov Identifier
2020-000776-38 , EudraCT Number:
Duration of Study in the UK
0 years, 2 months, 23 days
Research summary
Thymidine kinase 2 (TK2) deficiency is a severe, progressive genetic disease associated with loss of function and
high rates of morbidity and mortality. TK2 deficiency is an ultra-rare disease with no available human population data
(epidemiology) studies. The estimated incidence is <1 in 1,000,000 (https://www.orpha.net/). TK2 deficiency
presents as progressive muscle weakness in all patients; however, clinical forms have different levels of severity and
functional impairment across patients (e.g. including muscle weakness and hearing loss, spinal-muscular atrophylike
presentation, as well as severe encephalomyopathy (e.g brain and nervous system disorders).
There are no medicinal products approved for treatment of TK2 deficiency; thus, treatment is limited to supportive and
invasive therapies . This is a descriptive, retrospective, chart-review study to support a comprehensive assessment of
survival for all TK2 deficiency subjects who have been treated with pyrimidine nucleos(t)ides (chemical-grade
dCMP/dTMP, deoxycytidine/deoxythymidine (dC/dT), and/or MT1621), worldwide, compared to an untreated control
group by combining this study's data with the treated and untreated TK2d populations, respectively, in other MT1621
program studies. The data from the treated subjects in this study will be added to the treated population from the
MT1621 combined studies. The data from the untreated subjects in this study will be added to the untreated control
group which consist of subjects from natural history studies and other published literature. The secondary goals of
this study will focus on describing the treated subject's clinical course and treatment experience. It is a multicentre
study involving 23 sites in Romania, Italy, Russia, Spain, Turkey, United Kingdom, and the United States.
Retrospective data extraction will occur over approximately 1 year.REC name
London - Brighton & Sussex Research Ethics Committee
REC reference
21/LO/0423
Date of REC Opinion
7 Dec 2021
REC opinion
Further Information Favourable Opinion