A RETROspective Study of Patients With TK2d (RETRO)

• ClinicalTrials.gov Identifier: NCT03701568
• Recruitment Status: Completed
• First Posted: October 10, 2018
• Last Update Posted: June 11, 2019
• Sponsor: Modis Therapeutics, Inc.
• Information provided by (Responsible Party): Modis Therapeutics, Inc.

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
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: November 19, 2018
• Actual Primary Completion Date: April 30, 2019
• Actual Study Completion Date: May 31, 2019

Groups and Cohorts

Intervention Details:

• Drug: dC/dT
  Collection of retrospective data from TK2 patients previously treated with dC/dT
  Other Name: deoxycytidine/deoxythymidine

Outcome Measures

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

• 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

Locations

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

• Responsible Party: Modis Therapeutics, Inc.
• ClinicalTrials.gov Identifier: NCT03701568
• Other Study ID Numbers: MT-1621-101
• First Posted: October 10, 2018
• 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

Keywords provided by Modis Therapeutics, Inc.:

myopathy, muscle weakness, hypotonia, dysphagia, ptosis