NCT05653544

Brief Summary

This is a longitudinal study in a cohort of patients with a genetic diagnosis of Primary Mitochondrial Myopathy to describe the natural history of the disease and identify clinical, biochemical, molecular, and radiological variables that allow evaluation of the severity and progression of the disease and may be useful in future clinical trials.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P50-P75 for all trials

Timeline
8mo left

Started Jan 2023

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress84%
Jan 2023Dec 2026

First Submitted

Initial submission to the registry

November 29, 2022

Completed
17 days until next milestone

First Posted

Study publicly available on registry

December 16, 2022

Completed
16 days until next milestone

Study Start

First participant enrolled

January 1, 2023

Completed
3.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2026

Expected
7 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2026

Last Updated

September 16, 2025

Status Verified

September 1, 2025

Enrollment Period

3.4 years

First QC Date

November 29, 2022

Last Update Submit

September 10, 2025

Conditions

Primary Mitochondrial Myopathies

Keywords

mtDNATK2large scale single deletionmultiple deletionsPOLGTWNK

Outcome Measures

Primary Outcomes (1)

  • Motor Function (endurance)

    6 minute walking test (6MWT)

    36 months

Secondary Outcomes (4)

  • Motor Function (functional scale)

    36 months

  • Biomarkers

    36 months

  • Levels of heteroplasmy

    36 months

  • Muscle magenitc resonance image (MRI)

    36 months

Study Arms (1)

Mitochondrial myopathy

Mitochondrial myopathy, confirmed genetically

Eligibility Criteria

Age16 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with Primary Mitochondrial Myopathy with a genetic diagnosis

You may qualify if:

  • Muscle symptoms: exercise intolerance and fatigue, myalgia, recurrent rhabdomyolysis, chronic progressive external ophthalmoplegia and/or muscular weakness
  • Primary mtDNA mutation or pathogenic mutations in nDNA, especially in genes related to mtDNA maintenance such as TK2, POLG, TWNK and RRM2B, among others.

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hospital Universitario 12 Octubre

Madrid, Madrid, 28041, Spain

RECRUITING

Related Publications (4)

  • Dominguez-Gonzalez C, Hernandez-Voth A, de Fuenmayor-Fernandez de la Hoz CP, Guerrero LB, Moris G, Garcia-Garcia J, Muelas N, Leon Hernandez JC, Rabasa M, Lora D, Blazquez A, Arenas J, Martin MA. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study. Neuromuscul Disord. 2022 Sep;32(9):728-735. doi: 10.1016/j.nmd.2022.07.399. Epub 2022 Jul 16.

    PMID: 35907766BACKGROUND

  • Dominguez-Gonzalez C, Fernandez-Torron R, Moore U, de Fuenmayor-Fernandez de la Hoz CP, Velez-Gomez B, Cabezas JA, Alonso-Perez J, Gonzalez-Mera L, Olive M, Garcia-Garcia J, Moris G, Leon Hernandez JC, Muelas N, Servian-Morilla E, Martin MA, Diaz-Manera J, Paradas C. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis. J Neurol. 2022 Jul;269(7):3550-3562. doi: 10.1007/s00415-021-10957-0. Epub 2022 Mar 14.

    PMID: 35286480BACKGROUND

  • Bermejo-Guerrero L, de Fuenmayor-Fernandez de la Hoz CP, Serrano-Lorenzo P, Blazquez-Encinar A, Gutierrez-Gutierrez G, Martinez-Vicente L, Galan-Davila L, Garcia-Garcia J, Arenas J, Muelas N, Hernandez-Lain A, Dominguez-Gonzalez C, Martin MA. Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations. J Clin Med. 2021 Dec 22;11(1):22. doi: 10.3390/jcm11010022.

    PMID: 35011763BACKGROUND

  • Rodriguez-Lopez C, Garcia-Cardaba LM, Blazquez A, Serrano-Lorenzo P, Gutierrez-Gutierrez G, San Millan-Tejado B, Muelas N, Hernandez-Lain A, Vilchez JJ, Gutierrez-Rivas E, Arenas J, Martin MA, Dominguez-Gonzalez C. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. J Med Genet. 2020 Sep;57(9):643-646. doi: 10.1136/jmedgenet-2019-106649. Epub 2020 Mar 11.

    PMID: 32161153BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

DNA, muscle biopsies

Central Study Contacts

Cristina Domínguez González, MD, PhD

CONTACT

+34917792582Neuromuscular.hdoc@salud.madrid.org

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
3 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Cristina Domínguez González, MD, PhD

Study Record Dates

First Submitted

November 29, 2022

First Posted

December 16, 2022

Study Start

January 1, 2023

Primary Completion (Estimated)

June 1, 2026

Study Completion (Estimated)

December 31, 2026

Last Updated

September 16, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing
Will not share

Locations

ES(1)