A RETROspective Study of Patients With TK2d

Sponsor

Modis Therapeutics, Inc. (Industry)

Overall Status

Completed

CT.gov ID

NCT03701568

Collaborator

(none)

Enrollment

Locations

6.3

Actual Duration (Months)

4.8

Patients Per Site

0.7

Patients Per Site Per Month

Study Details

Study Description

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	Phase
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

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 :

Nov 19, 2018

Actual Primary Completion Date :

Apr 30, 2019

Actual Study Completion Date :

May 31, 2019

Outcome Measures

Primary Outcome Measures

Diagnosis [3 months]
genetic testing (previously conducted)

Secondary Outcome Measures

Clinical course [3 months]
BMI (height in inches and weight in kg will be combined to report BMI in kg/m^2)
Clinical course [3 months]
achievement, loss, or regaining of developmental motor milestones
Motor function and ambulatory assessments [3 months]
Change in 6-minute walk test [6MWT] distance (in meters)
Motor function and ambulatory assessments [3 months]
Motor Function Measure [MFM] 20 or MFM 32
Motor function and ambulatory assessments [3 months]
Egen Klassifikation
Motor function and ambulatory assessments [3 months]
North Star Ambulatory Assessment
Motor function and ambulatory assessments [3 months]
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders [CHOP INTEND]
Motor function and ambulatory assessments [3 months]
Hammersmith Functional Motor Scale-Expanded [HFMSE]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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:

Presence of other genetic disease or polygenic disease

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Columbia University Medical Center	New York	New York	United States	10032
2	Rambam Hospital	Haifa		Israel	3109601
3	Wolfson Medical Center	Holon		Israel	5822012
4	Western Galilee Hospital	Nahariya		Israel	89 כביש
5	Hospital Vall d'Hebron	Barcelona		Spain	08035
6	Sant Joan de Déu Hospital	Barcelona		Spain	08950
7	Hospital 12 de Octubre	Madrid		Spain	28041
8	Hospital Universitario Virgen del Rocio	Seville		Spain	41013

Sponsors and Collaborators

Modis Therapeutics, Inc.

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Modis Therapeutics, Inc.

ClinicalTrials.gov Identifier:

NCT03701568

Other Study ID Numbers:

MT-1621-101

First Posted:

Oct 10, 2018

Last Update Posted:

Jun 11, 2019

Last Verified:

Jun 1, 2019

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Keywords provided by Modis Therapeutics, Inc.

myopathy, muscle weakness, hypotonia, dysphagia, ptosis

Study Results

No Results Posted as of Jun 11, 2019