Mitochondrial Membrane Protein Neurodegeneration (MPAN)

NCT ID: NCT05678790

Last Updated: 2023-09-28

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 2 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-04-01
• Study Completion Date: 2023-09-28

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.

Conditions

MPAN

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Balance and Coordination

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

Group Type: EXPERIMENTAL

Passive Stretching

Intervention Type: OTHER

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

Mobilization

Intervention Type: 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

Intervention Type: 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

Intervention Type: 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

Interventions

Passive Stretching

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

Intervention Type: OTHER

Mobilization

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

Intervention Type: OTHER

Muscle strengthening

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

Intervention Type: OTHER

Balance and Coordination

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

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Being diagnosed with MPAN

Exclusion Criteria

• being involved in any other rehabilitation program

• Minimum Eligible Age: 9 Years
• Maximum Eligible Age: 14 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Kirsehir Ahi Evran Universitesi

OTHER

Sponsor Role: lead

Responsible Party

Ömer Faruk ÖZÇELEP

Researcher

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Figen TUNCAY

Role: STUDY_DIRECTOR

Kirsehir Ahi Evran Universitesi

Locations

Ahi Evran University

Kırşehir, , Turkey (Türkiye)

Countries

Turkey (Türkiye)

References

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.

Reference Type: BACKGROUND

PMID: 34298215 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 35432442 (View on PubMed)

Other Identifiers

AEvran

Identifier Type: -

Identifier Source: org_study_id