Mitochondrial Membrane Protein Neurodegeneration (MPAN)

NCT05678790 | Completed DMC

• 1 other identifier: AEvran
• Study Type: interventional
• Target: 2
• Locations: 1 country
• Sites: 1

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.

Conditions

MPAN

Keywords

MPAN; Exercise Therapy; Balance and Coordination

Outcome Measures

Primary Outcomes (3)

• Balance

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

  6 weeks

• Functional İndependence

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

  6 weeks

• Observational Gait Analysis

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

  6 weeks

Study Arms (1)

Balance and Coordination

EXPERIMENTAL

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

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

Interventions

Passive Stretching OTHER

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

Balance and Coordination

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

Balance and Coordination

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

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

Balance and Coordination

Eligibility Criteria

• Age: 9 Years - 14 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Being diagnosed with MPAN

You may not qualify if:

• being involved in any other rehabilitation program

Sponsors & Collaborators

• Kirsehir Ahi Evran Universitesi: lead

Study Sites (1)

Ahi Evran University

Kırşehir, Turkey (Türkiye)

Location

Related Publications (2)

• 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.

  PMID: 34298215 BACKGROUND

• 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.

  PMID: 35432442 BACKGROUND

MeSH Terms

Interventions

Muscle Stretching Exercises

Intervention Hierarchy (Ancestors)

Exercise Therapy; Rehabilitation; Aftercare; Continuity of Patient Care; Patient Care; Therapeutics; Physical Therapy Modalities; Exercise; Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• Figen TUNCAY

  Kirsehir Ahi Evran Universitesi

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Researcher

Model Details: Case Study

Study Record Dates

• First Submitted: December 22, 2022
• First Posted: January 10, 2023
• Study Start: April 1, 2023
• Primary Completion: September 28, 2023
• Study Completion: September 28, 2023
• Last Updated: September 28, 2023

Record last verified: 2023-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: 6 months study finished

Locations

TU (1)