Mitochondrial Membrane Protein Neurodegeneration (MPAN)

Kirsehir Ahi Evran Universitesi

Status: Completed

Conditions: MPAN

Treatments: Other: Passive Stretching; Other: Muscle strengthening; Other: Mobilization; Other: Balance and Coordination

Study type: Interventional

Funder types: Other

Identifiers

NCT05678790

AEvran

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 2 patients

Sex: Male

Ages: 9 to 14 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Being diagnosed with MPAN

Exclusion criteria

• being involved in any other rehabilitation program

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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2 participants in 1 patient group

Balance and Coordination

Experimental group

Description:

Since it is a case study, there will be only one group in the study.

Treatment:

Other: Balance and Coordination

Other: Mobilization

Other: Passive Stretching

Other: Muscle strengthening