Clinical trial NCT03701568: A RETROspective Study of Patients With TK2d
Official title: A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Thymidine Kinase 2 (TK2)
Keywords: myopathy, muscle weakness, hypotonia, dysphagia, ptosis
Lead sponsor: UCB Pharma
Sponsor class: INDUSTRY
First posted: 2018-10-10
Enrollment: 38
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with TK2 deficiency who have received treatment with pyrimidine nucleosides

Brief 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.

Detailed 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).

Eligibility criteria: 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

Primary outcomes:
measure: Diagnosis
timeFrame: 3 months
Secondary outcomes:
measure: Clinical course
timeFrame: 3 months
measure: Clinical course
timeFrame: 3 months
measure: Motor function and ambulatory assessments
timeFrame: 3 months
measure: Motor function and ambulatory assessments
timeFrame: 3 months
measure: Motor function and ambulatory assessments
timeFrame: 3 months
measure: Motor function and ambulatory assessments
timeFrame: 3 months
measure: Motor function and ambulatory assessments
timeFrame: 3 months
measure: Motor function and ambulatory assessments
timeFrame: 3 months
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
city: Haifa
country: Israel
facility: Rambam Hospital
city: Holon
country: Israel
facility: Wolfson Medical Center
city: Nahariya
country: Israel
facility: Western Galilee Hospital
city: Barcelona
country: Spain
facility: Hospital Vall d'Hebron
city: Barcelona
country: Spain
facility: Sant Joan de Déu Hospital
city: Madrid
country: Spain
facility: Hospital 12 de Octubre
city: Seville
country: Spain
facility: Hospital Universitario Virgen del Rocio
Study officials:
affiliation: 001 844 599 2273
name: UCB Cares
role: STUDY_DIRECTOR
References: