Clinical trial NCT05346627: Home Based Personalized Training and Video Consultation in Mitochondrial Myopathies: Study of Efficacy and Tolerance.
Official title: Video Consultation and Mitochondrial Myopathies: Study of Efficacy and Tolerance of a Personalized Training Program at Home
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Mitochondrial Myopathies
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2022-04-26
Enrollment: 15
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: PREVENTION

Brief summary: Positive effect of physical activity on health arouses a strong interest at international level and is developped within the scope of national programs. Recommandations exist but must be designed for patients with functional limitations of activities.

Patients with mitochondrial diseases have exercice intolerance with an increase of muscular weakness and fatigue after low exercice volume. Theses patients have functional limitations of activities. In order to establish an appropriate training programme, it will be important to define and consider the physical condition. The Society of Mitochondrial Medecine published recommandations for management of theses patients,However, theses recommandations do not allow them to propose a training program of what can be done. For these vulnerable patients, therapists are responsible fo advising a training programm without guidelines to establish its terms and conditions. In addition, some exercices do not appear to have been the subject of complete assessmeents.

Regarding training programs (aerobic training, muscle reinforcement, miwed training), scientific literature shows a significant genetic and clinical variabilities, as well as a lack of data on clinical severity of included patients. In addition, the lack of informations regarding training effects of heteroplamy level limits our comprehension of mechanisms involved in adaptation of mitochondrial pool during training. Therefore, further reserchs on this subject are essential.

It is necessary to offer these patients a follow-up and personalized training program, which are in adequation with daily life. Some publications call on specifics concepts which are not compatible with day-to-day life. The investigators think it will be useful to investigate training effects in order to have practival conclusions, easily reproducible at home by patients with simple and inexpensive equipment. In this context, video consultation could allow the close follow-up of these patients.

The investigators hypothesize that a mixed training (endurance and muscle reinforcement), personalized, at home and followed by video consultation have positive effects on some physical criteria (such as musclar strength, tolerance to effort, functional abilities) without increasing heteroplasmy and creatine phosphokinase levels.


Eligibility criteria: Inclusion criteria:

* patient over 18 years-old,
* with genetically-confirmed mitochondria myopathy,
* with mitochondrial DNA mutation,
* clinically dominant myopathic-like disorders according investigator,
* able to walk with or without assistance,
* likely to be followed for at least one year without interruption by video consultation (implying internet connexion with computer and camera or smartophone),
* having given the written and informed consent and being social security member.
* For patients in childbearing age, she must have used at least one month if reliable contraception.

Exclusion criteria:

* patient wih pathology or comorbidity incompatible with the conduct of the study according the investigator during inclusion visit,
* patient with physical condition incompatible with training program according investigator during inclusion visit,
* patient having a physical tiredness and/or myalgia during last week with an intensity of 6 on visual and analog scale,
* pregnant or nursing patient,
* patient expecting pregnancy during the course of the study,
* patient protected by law or under guardianship or curatorship, or not able to participate in a clinical trial under L.1121-16 article of French Public Health Regulations.

Primary outcomes:
measure: Change of overall functional capacity of moving during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
Secondary outcomes:
measure: Change of muscular strength of upper and lower limbs during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Change of muscular endurance of upper and lower limbs during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Change of functional abilities in walking during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Change of functional abilities during transferts during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Change of clinical severity of the disease during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Change of quality of life during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Change of tiredness felt during training period from 6 months (S0) to 9 (S12) and 12 (S24) months
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Check effects of a training program on clinical and biological tolerance, by assessing the modification of heteroplasmy level
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Check effects of a training program on clinical and biological tolerance, by regularly assessing the effort-related myalgia
timeFrame: From 6 months (S0) to 12 months (S24)
measure: Check effects of a training program on clinical and biological tolerance, by assessing the blood creatine phosphokinase levels which is a muscle damage marker
timeFrame: From 0 (S-24) to 12 months (S24)
measure: Establish a "dose-effect" relationship between the training frequency and effects on clinical parameters (strength, endurance and functionnal abilities such as global moving, walking and during transferts)
timeFrame: From 0 (S-24) to 12 months (S24)
measure: Check effect of a training program on reported physical condition by assessing the Recent Physical Activity Questionnaire (RPAQ).
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Check effect of a training program on reported physical condition by assessing the Global Physical Activity Questionnaire (GPAQ).
timeFrame: At 6 (S0), 9 (S12) and 12 (S24) months
measure: Describe the natural history of disease without training on heteroplasmy level
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on blood creatine phosphokinase levels
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on muscular strength of upper and lower limbs
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on functional abilities in walking
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on functional abilities during transfert
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on quality of life
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on tiredness felt
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on reported physical condition by assessing the Recent Physical Activity Questionnaire (RPAQ).
timeFrame: At 0 (S-24) and 6 months (S0)
measure: Describe the natural history of disease without training on reported physical condition by assessing the Global Physical Activity Questionnaire (GPAQ).
timeFrame: At 0 (S-24) and 6 months (S0)
Other outcomes:
Locations:
city: Nice
country: France
facility: CHU de Nice
state: Alpes Maritimes
Study officials:
References: