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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.

Study Description
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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.

Condition or disease Intervention/treatment
Thymidine Kinase 2 (TK2) Drug: dC/dT

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 Design
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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
Groups and Cohorts
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Intervention Details:
  • Drug: dC/dT
    Collection of retrospective data from TK2 patients previously treated with dC/dT
    Other Name: deoxycytidine/deoxythymidine

Outcome Measures
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Primary Outcome Measures :
  1. Diagnosis [ Time Frame: 3 months ]
    genetic testing (previously conducted)


Secondary Outcome Measures :
  1. Clinical course [ Time Frame: 3 months ]
    BMI (height in inches and weight in kg will be combined to report BMI in kg/m^2)

  2. Clinical course [ Time Frame: 3 months ]
    achievement, loss, or regaining of developmental motor milestones

  3. Motor function and ambulatory assessments [ Time Frame: 3 months ]
    Change in 6-minute walk test [6MWT] distance (in meters)

  4. Motor function and ambulatory assessments [ Time Frame: 3 months ]
    Motor Function Measure [MFM] 20 or MFM 32

  5. Motor function and ambulatory assessments [ Time Frame: 3 months ]
    Egen Klassifikation

  6. Motor function and ambulatory assessments [ Time Frame: 3 months ]
    North Star Ambulatory Assessment

  7. Motor function and ambulatory assessments [ Time Frame: 3 months ]
    Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders [CHOP INTEND]

  8. Motor function and ambulatory assessments [ Time Frame: 3 months ]
    Hammersmith Functional Motor Scale—Expanded [HFMSE]


Biospecimen Retention:   Samples With DNA
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).

Eligibility Criteria
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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
Study Population
Patients with TK2 deficiency who have received treatment with pyrimidine nucleosides
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

Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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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
Sponsors and Collaborators
Modis Therapeutics, Inc.
More Information
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Responsible Party: Modis Therapeutics, Inc.
ClinicalTrials.gov Identifier: NCT03701568     History of Changes
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

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Modis Therapeutics, Inc.:
myopathy, muscle weakness, hypotonia, dysphagia, ptosis