Mitochondrial Membrane Protein Neurodegeneration (MPAN)

Not Applicable

Completed

• Conditions: MPAN
• Interventions: Other: Passive Stretching; Other: Mobilization; Other: Muscle strengthening; Other: Balance and Coordination

• Registration Number: NCT05678790
• Lead Sponsor: Kirsehir Ahi Evran Universitesi

Brief Summary

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.

Detailed 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.

Study Timeline

• Study First Submitted: 2022-12-22
• Study First Submitted QC: 2023-01-07
• Study First Posted: 2023-01-10
• Study Start: 2023-04-01
• Status Verified: 2023-09
• Last Update Submitted: 2023-09-27
• Primary Completion: 2023-09-28
• Study Completion: 2023-09-28
• Last Update Posted: 2023-09-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 2

Inclusion Criteria

• Being diagnosed with MPAN

Exclusion Criteria

• being involved in any other rehabilitation program

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Balance and Coordination	Passive Stretching	Since it is a case study, there will be only one group in the study.
Balance and Coordination	Balance and Coordination	Since it is a case study, there will be only one group in the study.
Balance and Coordination	Mobilization	Since it is a case study, there will be only one group in the study.
Balance and Coordination	Muscle strengthening	Since it is a case study, there will be only one group in the study.

Primary Outcome Measures

Name	Time	Method
Balance	6 weeks	Balance and coordination will be evaluated with the Pediatric Berg Balance Test.
Functional İndependence	6 weeks	Functional independence which will evaluate with Functional Independence Measure for Children (WeeFIM).
Observational Gait Analysis	6 weeks	Gait characteristic will assessed with Observational Gait Analysis (OGA).

Trial Locations

Locations (1)

Ahi Evran University; 🇹🇷 Kırşehir, Turkey