Clinical trial NCT05678790: Mitochondrial Membrane Protein Neurodegeneration (MPAN)
Official title: The Effect of 6-week Rehabilitation Program in Brothers With MPAN: A Report of Two Cases.
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: MPAN
Keywords: MPAN
Exercise Therapy
Balance and Coordination
Lead sponsor: Kirsehir Ahi Evran Universitesi
Sponsor class: OTHER
First posted: 2023-01-10
Enrollment: 2
Sex: MALE
Minimum age (years): 9
Maximum age (years): 14
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Case Study
Primary purpose: TREATMENT

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.

Eligibility criteria: Inclusion Criteria:

* Being diagnosed with MPAN

Exclusion Criteria:

* being involved in any other rehabilitation program

Primary outcomes:
measure: Balance
timeFrame: 6 weeks
measure: Functional İndependence
timeFrame: 6 weeks
measure: Observational Gait Analysis
timeFrame: 6 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Kırşehir
country: Turkey
facility: Ahi Evran University
Study officials:
affiliation: Kirsehir Ahi Evran Universitesi
name: Figen TUNCAY
role: STUDY_DIRECTOR
References:
citation: Ramesh R, Deenadayalu A, Bhattacharjee S, Paramanandam V. C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia. Parkinsonism Relat Disord. 2021 Aug;89:146-147. doi: 10.1016/j.parkreldis.2021.07.014. Epub 2021 Jul 13.
citation: Yang Y, Zhang S, Yang W, Wei T, Hao W, Cheng T, Wang J, Dong W, Qian N. Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration. Front Genet. 2022 Mar 30;13:852374. doi: 10.3389/fgene.2022.852374. eCollection 2022.