A RETROspective Study of Patients With TK2d (RETRO)
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ClinicalTrials.gov Identifier: NCT03701568 |
Recruitment Status :
Completed
First Posted : October 10, 2018
Last Update Posted : June 11, 2019
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Condition or disease | Intervention/treatment |
---|---|
Thymidine Kinase 2 (TK2) | Drug: dC/dT |
Study Type : | Observational |
Actual Enrollment : | 38 participants |
Observational Model: | Case-Only |
Time Perspective: | Retrospective |
Official Title: | A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2) |
Actual Study Start Date : | November 19, 2018 |
Actual Primary Completion Date : | April 30, 2019 |
Actual Study Completion Date : | May 31, 2019 |
- Drug: dC/dT
Collection of retrospective data from TK2 patients previously treated with dC/dTOther Name: deoxycytidine/deoxythymidine
- Diagnosis [ Time Frame: 3 months ]genetic testing (previously conducted)
- Clinical course [ Time Frame: 3 months ]BMI (height in inches and weight in kg will be combined to report BMI in kg/m^2)
- Clinical course [ Time Frame: 3 months ]achievement, loss, or regaining of developmental motor milestones
- Motor function and ambulatory assessments [ Time Frame: 3 months ]Change in 6-minute walk test [6MWT] distance (in meters)
- Motor function and ambulatory assessments [ Time Frame: 3 months ]Motor Function Measure [MFM] 20 or MFM 32
- Motor function and ambulatory assessments [ Time Frame: 3 months ]Egen Klassifikation
- Motor function and ambulatory assessments [ Time Frame: 3 months ]North Star Ambulatory Assessment
- Motor function and ambulatory assessments [ Time Frame: 3 months ]Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders [CHOP INTEND]
- Motor function and ambulatory assessments [ Time Frame: 3 months ]Hammersmith Functional Motor Scale-Expanded [HFMSE]
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- 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
- Confirmed genetic mutation in the TK2 gene
- Availability of medical records for each patient from the time of onset of symptoms
- Patient has taken pyrimidine nucleos(t)ides (dCMP/dTMP and/or dC/dT) as substrate enhancement therapy for TK2 deficiency
- 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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03701568
United States, New York | |
Columbia University Medical Center | |
New York, New York, United States, 10032 | |
Israel | |
Rambam Hospital | |
Haifa, Israel, 3109601 | |
Wolfson Medical Center | |
Holon, Israel, 5822012 | |
Western Galilee Hospital | |
Nahariya, Israel, 89 כביש | |
Spain | |
Hospital Vall d'Hebron | |
Barcelona, Spain, 08035 | |
Sant Joan de Déu Hospital | |
Barcelona, Spain, 08950 | |
Hospital 12 de Octubre | |
Madrid, Spain, 28041 | |
Hospital Universitario Virgen del Rocio | |
Seville, Spain, 41013 |
Responsible Party: | Modis Therapeutics, Inc. |
ClinicalTrials.gov Identifier: | NCT03701568 |
Other Study ID Numbers: |
MT-1621-101 |
First Posted: | October 10, 2018 Key Record Dates |
Last Update Posted: | June 11, 2019 |
Last Verified: | June 2019 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
myopathy, muscle weakness, hypotonia, dysphagia, ptosis |