A RETROspective Study of Patients With TK2d

Thymidine Kinase 2 (TK2) Clinical Trial

— RETRO  

Official title:

A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03701568
• Other study ID #: MT-1621-101
• Status: Completed
• Start date: November 19, 2018
• Est. completion date: May 31, 2019

Study information

• Verified date: August 2023
• Source: UCB Pharma
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This is a medical chart review study to collect information for patients who have been taking pyrimidine nucleosides for treatment of TK2 deficiency. Information from the time of onset of symptoms will be collected to describe the pre treatment course of TK2 deficiency.

Description:

Data to be collected from the time of onset of symptoms related to TK2 deficiency includes medical conditions and/or adverse events (AEs); these should include relationship to TK2 disease and/or pyrimidine nucleosides, as appropriate, as well as date of onset and severity, when available. When available, test reports may be obtained as well as available research biological samples (eg, blood or tissue samples that may be tested for biomarkers of disease and/or effects of medications to treat the mitochondrial disease).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 38
• Est. completion date: May 31, 2019
• Est. primary completion date: April 30, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Signed informed consent by the patient or parent(s)/legally authorized representative (LAR) and/or assent by the patient (when applicable), unless the associated institutional review board (IRB) or ethics committee (EC) provides an appropriate consent waiver

2. Confirmed genetic mutation in the TK2 gene

3. Availability of medical records for each patient from the time of onset of symptoms

4. Patient has taken pyrimidine nucleos(t)ides (dCMP/dTMP and/or dC/dT) as substrate enhancement therapy for TK2 deficiency

5. Most recent patient visit at which efficacy and/or safety parameters were collected occurred between 01 June 2018 and 15 December 2018

Exclusion Criteria:

1. Presence of other genetic disease or polygenic disease

Related Conditions & MeSH terms

• Thymidine Kinase 2 (TK2)

Intervention

Drug:
• dC/dT
Collection of retrospective data from TK2 patients previously treated with dC/dT

Locations

Country	Name	City	State
Israel	Rambam Hospital	Haifa
Israel	Wolfson Medical Center	Holon
Israel	Western Galilee Hospital	Nahariya
Spain	Hospital Vall d'Hebron	Barcelona
Spain	Sant Joan de Déu Hospital	Barcelona
Spain	Hospital 12 de Octubre	Madrid
Spain	Hospital Universitario Virgen del Rocio	Seville
United States	Columbia University Medical Center	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
Zogenix MDS, Inc.

Countries where clinical trial is conducted

United States,  Israel,  Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnosis	genetic testing (previously conducted)	3 months
Secondary	Clinical course	BMI (height in inches and weight in kg will be combined to report BMI in kg/m^2)	3 months
Secondary	Clinical course	achievement, loss, or regaining of developmental motor milestones	3 months
Secondary	Motor function and ambulatory assessments	Change in 6-minute walk test [6MWT] distance (in meters)	3 months
Secondary	Motor function and ambulatory assessments	Motor Function Measure [MFM] 20 or MFM 32	3 months
Secondary	Motor function and ambulatory assessments	Egen Klassifikation	3 months
Secondary	Motor function and ambulatory assessments	North Star Ambulatory Assessment	3 months
Secondary	Motor function and ambulatory assessments	Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders [CHOP INTEND]	3 months
Secondary	Motor function and ambulatory assessments	Hammersmith Functional Motor Scale-Expanded [HFMSE]	3 months