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CompletedNCT05678790Updated Sep 28, 2023

Mitochondrial Membrane Protein Neurodegeneration (MPAN)

An interventional study of Passive Stretching and Mobilization in MPAN, sponsored by Kirsehir Ahi Evran Universitesi. Completed at 1 site in Turkey. Open to male participants aged 9 Years to 14 Years. Per ClinicalTrials.gov, last updated 2023-09-28.

Sponsored by Kirsehir Ahi Evran Universitesi · Not applicable, Interventional, and Treatment

Phase
Not applicable
Study type
Interventional
Enrollment
2
Allocation
Not applicable
Ages
9 Years to 14 Years
Sex
Male
01

Study 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.

Read the 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.

02

Conditions studied

  • MPAN

Keywords

  • MPAN
  • Exercise Therapy
  • Balance and Coordination
03

In context

Lead sponsor

Kirsehir Ahi Evran Universitesi is the lead sponsor of 133 studies on the registry; 55 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
9 Years to 14 Years
Sexes eligible
Male
Accepts healthy volunteers
No

Inclusion criteria

  • Being diagnosed with MPAN

Exclusion criteria

Exclusion Criteria:

  • being involved in any other rehabilitation program
05

Study design

Phase
Not applicable
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
2 participants (actual)

Study arms

  • Experimental
    Balance and Coordination

    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

  • OtherPassive Stretching

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

  • OtherMobilization

    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

  • OtherMuscle 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

  • OtherBalance 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

06

What researchers measure

Primary outcomes

  1. Balance

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

    Time frame: 6 weeks

  2. Functional İndependence

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

    Time frame: 6 weeks

  3. Observational Gait Analysis

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

    Time frame: 6 weeks

07

Study locations

1 site
  • Ahi Evran University
    Kırşehir, Turkey
08

References and documents

Publications

  • 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. PubMed 34298215 ↗
  • 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. PubMed 35432442 ↗

Individual participant data

Plan to share: Yes — Data can be shared online if requested.

Supporting information: Study protocol, Sap, Icf, Csr, Analytic code

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Sep 28, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT05678790
Lead sponsor
Kirsehir Ahi Evran Universitesi
Responsible party
Ömer Faruk ÖZÇELEP (Researcher, Kirsehir Ahi Evran Universitesi) — Principal investigator
First posted
Jan 10, 2023
Start date
Apr 1, 2023
Primary completion
Sep 28, 2023
Completion
Sep 28, 2023
Last update
Sep 28, 2023

Study contacts

Figen TUNCAY
study director · Kirsehir Ahi Evran Universitesi

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Sep 2023. You cannot join it, but the record below documents what was studied.

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