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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
Sponsor:
Information provided by (Responsible Party):
Modis Therapeutics, Inc.

Tracking Information
First Submitted Date September 27, 2018
First Posted Date October 10, 2018
Last Update Posted Date June 11, 2019
Actual Study Start Date November 19, 2018
Actual Primary Completion Date April 30, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 8, 2018)
Diagnosis [ Time Frame: 3 months ]
genetic testing (previously conducted)
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: October 8, 2018)
  • 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]
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title 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)
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).
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
When available, test reports maybe obtained (eg, reports from genetic testing, muscle biopsy) 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).
Sampling Method Non-Probability Sample
Study Population Patients with TK2 deficiency who have received treatment with pyrimidine nucleosides
Condition Thymidine Kinase 2 (TK2)
Intervention Drug: dC/dT
Collection of retrospective data from TK2 patients previously treated with dC/dT
Other Name: deoxycytidine/deoxythymidine
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: February 6, 2019)
38
Original Estimated Enrollment
 (submitted: October 8, 2018)
35
Actual Study Completion Date May 31, 2019
Actual Primary Completion Date April 30, 2019   (Final data collection date for primary outcome measure)
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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Israel,   Spain,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03701568
Other Study ID Numbers MT-1621-101
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Modis Therapeutics, Inc.
Study Sponsor Modis Therapeutics, Inc.
Collaborators Not Provided
Investigators Not Provided
PRS Account Modis Therapeutics, Inc.
Verification Date June 2019