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Completed

NCT Number: NCT05678790

Mitochondrial Membrane Protein Neurodegeneration (MPAN)

The purpose of this case study was to investigate the effects of therapeutic intervention in 9- and 12-year-old brothers with MPAN. The main hypothesis it aims to answer is:

-A 6-week balance and coordination focused rehabilitation program improves independence and gait parameters in patients with MPAN.

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Key information

Conditions

MPAN

Age range

9 year–14 year

Sex eligibility

Male

Study type

Interventional

Phase

Not applicable

Primary location

Ahi Evran University

Kırşehir, Turkey (Türkiye)

About this study

Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders with accumulation of iron in the brain, mostly basal ganglia. Mutations within C19orf12 have recently been identified in patients with NBIA. This C19orf12 gene -located in mitochondria and endoplasmic reticulum- encodes a mitochondrial membrane protein and the abbreviation MPAN. Pathogenic mutations in this gene are postulated to cause dysfunction of lipid homeostasis in mitochondria.

Patients with MPAN typically present with gait disturbance due to lower limb spasticity and dystonia, parkinsonism with subsequent spastic paresis, dysarthria, cerebellar ataxia, behavioral problems, dementia, psychomotor delay, peripheral neuropathy, visual changes like optic atrophy as well as bowel/bladder incontinence; however, MPAN has a greater variability compared with other NBIA cases in terms of age of onset (age three to 30 years) and speed of progression.

This study aims to investigate the effects of therapeutic intervention in male brothers, age 9 and 12, with MPAN. In particular, this study tested the following hypotheses after 6 weeks of rehabilitation by measuring muscle strength, muscle tone, range of motion , balance and coordination: (1) After the training period, muscle strenght, muscle tone and range of motion would be improved, (2) these developments in body function can lead to increase balance and coordination, and (3) due to the these improvements, functional independency may increase.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Being diagnosed with MPAN

Exclusion criteria

  • being involved in any other rehabilitation program

Treatment and study plan

passive stretching

Other

Sustained passive stretching of hamstring, tendo-achilles, and adductors 10 (30 s, with three repetitions, five times per week)

Mobilization

Other

Grade four mobilizations is a stretching motion performed at the talocrural joint with anterior-posterior gliding. Mobilization was performed once a day, 6 times a day, and 5 times a week, only on both deformed feet of the older sibling

Muscle strengthening

Other

Abdominal muscle strengthening exercises were given to both siblings once a day, 10 times a day, 5 times a week. In the supine position, the patients were asked to lie on their knees with the knees flexed. The hip extensors were trained in the prone position on the bed by resisting hip extension

Balance and Coordination

Other

The following exercises were applied 5 times a week, with 1o repetition once a day.

  • Standing on one leg in front of the mirror,
  • Tandem walking,
  • Rhythmic Dynamic Stabilization,
  • Swiss ball sitting (eyes open and closed),
  • Counting the alphabet or numbers while marching

Primary outcomes

  1. Balance

    Time frame: 6 weeks

    Balance and coordination will be evaluated with the Pediatric Berg Balance Test.

  2. Functional İndependence

    Time frame: 6 weeks

    Functional independence which will evaluate with Functional Independence Measure for Children (WeeFIM).

  3. Observational Gait Analysis

    Time frame: 6 weeks

    Gait characteristic will assessed with Observational Gait Analysis (OGA).

Sponsors and collaborators

Lead sponsor

Kirsehir Ahi Evran Universitesi

Other

Registry information

Official study title

The Effect of 6-week Rehabilitation Program in Brothers With MPAN: A Report of Two Cases.

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Jan 10, 2023
Registry last updated
Sep 28, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.