A RETROspective Study of Patients With TK2d
| Status: | Enrolling by invitation |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/10/2019 |
| Start Date: | November 19, 2018 |
| End Date: | July 1, 2019 |
A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2)
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.
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.
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).
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).
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
We found this trial at
2
sites
630 W 168th St
New York, New York
New York, New York
212-305-2862
Principal Investigator: Michio Hirano, MD
Columbia University Medical Center Situated on a 20-acre campus in Northern Manhattan and accounting for...
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