MPANNCT05678790
Mitochondrial Membrane Protein Neurodegeneration (MPAN)
A study testing Passive Stretching, Mobilization and Muscle strengthening in people with MPAN, run by Kirsehir Ahi Evran Universitesi at 1 site in Turkey (Türkiye).
Trial 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 more about this study
- Who is it for?
- Ages 9 to 14 years, men only
- Conditions the study is for
- MPAN
- What is being tested?
- Passive Stretching, Mobilization and Muscle strengthening
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 2 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Apr 2023to 28 Sep 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 9 to 14 years
- Men only
- No healthy volunteers
- Child
Who may be able to join
- Being diagnosed with MPAN
Who cannot join
- being involved in any other rehabilitation program
Trial locations and contacts
1 site in 1 country.
About this study
Official title: The Effect of 6-week Rehabilitation Program in Brothers With MPAN: A Report of Two Cases.
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.
- Conditions
- MPAN
- Being tested
- Passive Stretching, Mobilization, Muscle strengthening, Balance and Coordination
- Keywords
- MPAN, Exercise Therapy, Balance and Coordination
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Passive StretchingOther
Sustained passive stretching of hamstring, tendo-achilles, and adductors 10 (30 s, with three repetitions, five times per week)
MobilizationOther
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 strengtheningOther
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 CoordinationOther
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
| Study group | Role | What they receive |
|---|---|---|
| Balance and Coordination | Experimental | Since it is a case study, there will be only one group in the study. Receives: Other: Passive Stretching; Other: Mobilization; Other: Muscle strengthening; Other: Balance and Coordination |
What is being measured
The primary outcome is the main question the study is designed to answer.
Balance
Balance and coordination will be evaluated with the Pediatric Berg Balance Test.
Measured: 6 weeks
Functional İndependence
Functional independence which will evaluate with Functional Independence Measure for Children (WeeFIM).
Measured: 6 weeks
Observational Gait Analysis
Gait characteristic will assessed with Observational Gait Analysis (OGA).
Measured: 6 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jan 2023
- Study start1 Apr 2023
- Primary completion28 Sep 2023
- Study completion28 Sep 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for MPANStudies of the same condition, open and under way.
- More trials run by Kirsehir Ahi Evran UniversitesiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Case Study
- Masking
- None (open label)
- Enrolment
- 2 participants (actual)
Sponsor and investigators
- Lead sponsor
- Kirsehir Ahi Evran Universitesi
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ömer Faruk ÖZÇELEP, Kirsehir Ahi Evran Universitesi
- Investigators
- Figen TUNCAY, Study director, Kirsehir Ahi Evran Universitesi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05678790
- Sponsor's protocol ID
- AEvran
- Status last verified
- Sep 2023
- First submitted
- 22 Dec 2022
- Last updated
- 28 Sep 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Data can be shared online if requested.
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 34298215Yang 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
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Effect of 6-week Rehabilitation Program in Brothers With MPAN: A Report of Two Cases.
- ClinicalTrials.gov ID
- NCT05678790
- Acronym / sponsor ID
- AEvran
- Conditions
- MPAN
- Keywords
- MPAN, Exercise Therapy, Balance and Coordination
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 2 participants (actual)
- Lead sponsor
- Kirsehir Ahi Evran UniversitesiUniversity, hospital or other
- Study start
- 1 Apr 2023 (actual)
- Primary completion
- 28 Sep 2023 (actual)
- Study completion
- 28 Sep 2023 (actual)
- First posted
- 10 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Case Study
| Arm | Type | Receives |
|---|---|---|
| Balance and Coordination | Experimental | Other: Passive Stretching, Other: Mobilization, Other: Muscle strengthening, Other: Balance and CoordinationSince it is a case study, there will be only one group in the study. |
Who may qualify
- Ages
- 9 to 14 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (1 listed)
- Being diagnosed with MPAN
Key exclusion criteria (1 listed)
- being involved in any other rehabilitation program
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Passive StretchingSustained passive stretching of hamstring, tendo-achilles, and adductors 10 (30 s, with three repetitions, five times per week) | Other | Balance and Coordination |
| MobilizationGrade 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 | Other | Balance and Coordination |
| Muscle strengtheningAbdominal 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 | Other | Balance and Coordination |
| Balance and CoordinationThe 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 | Other | Balance and Coordination |
Primary outcome
Balance
Time frame: 6 weeks
Balance and coordination will be evaluated with the Pediatric Berg Balance Test.
Functional İndependence
Time frame: 6 weeks
Functional independence which will evaluate with Functional Independence Measure for Children (WeeFIM).
Observational Gait Analysis
Time frame: 6 weeks
Gait characteristic will assessed with Observational Gait Analysis (OGA).
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2023.
- Background: PubMed 34298215Ramesh 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.
- Background: PubMed 35432442Yang 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.
- Individual participant dataSharing planned: Yes. Data can be shared online if requested.
Related trials for MPAN
RecruitingObservational study
TIRCON International NBIA Registry
Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Figen TUNCAY study director
Kirsehir Ahi Evran Universitesi
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Passive Stretching, Mobilization and Muscle strengthening in people with MPAN, run by Kirsehir Ahi Evran Universitesi at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Balance (time frame: 6 weeks). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05678790, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Sep 2023.