- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT07521150
Physiotherapy and Rehabilitation in Melorheostosis: A Case Report (MELO-REHAB)
The Role of Physiotherapy and Rehabilitation in a Patient Diagnosed With Melorheostosis: A Case Report
The aim of this study is to evaluate the effects of a structured physiotherapy and rehabilitation-based exercise program on clinical and functional parameters in a patient diagnosed with melorheostosis.
This study specifically aims to assess the effects of a structured physiotherapy and rehabilitation-based intervention program, including patient education and therapeutic exercise, on lower extremity functional parameters, muscle strength, balance, and quality of life in a patient with melorheostosis.
The main hypotheses:
H0: A structured physiotherapy and rehabilitation-based exercise program has no effect on improvement in clinical and functional evaluation parameters in a patient with melorheostosis.
H1: A structured physiotherapy and rehabilitation-based exercise program leads to improvement in clinical and functional evaluation parameters in a patient with melorheostosis.
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Melorheostosis is a rare, chronic, and progressive sclerosing bone disorder characterized by cortical bone thickening, pain, joint stiffness, restricted mobility, and functional impairment. Due to its low prevalence, the available literature is limited, and conservative management strategies, particularly physiotherapy interventions, remain insufficiently defined.
A patient diagnosed with melorheostosis who meets the inclusion criteria and is followed by an orthopedic specialist will be included in this prospective single-case study to investigate the effectiveness of a structured physiotherapy and rehabilitation-based exercise program.
The patient, who is under regular physician supervision and willing to participate in the rehabilitation program, will be included in the study. The intervention approach will be based on a non-invasive, exercise-oriented physiotherapy program.
The rehabilitation program will consist of patient education, diaphragmatic breathing training, and a structured exercise program including strength, flexibility, and balance components. The patient will participate in a total of 24 physiotherapy sessions, three days per week, for eight weeks.
Before starting the treatment program, the patient's sociodemographic characteristics, medical history, and disease-related clinical features will be recorded using a structured evaluation form. A baseline clinical evaluation will be performed prior to the intervention.
Following the baseline assessment, the individualized physiotherapy program will be implemented. Exercise intensity and progression will be adjusted according to the patient's pain level and functional capacity throughout the intervention period.
Clinical and functional parameters will be evaluated before the treatment, immediately after the 8-week intervention, and at a 6-month follow-up to assess both short-term and long-term effects.
Throughout the study, the patient will continue routine medical treatment and remain under physician supervision, and no changes will be made to the existing medical management.
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Aslı Yeral, Asst. Prof. Dr.
- Phone Number: +90 0537 965 8494
- Email: asli.yeral@yeditepe.edu.tr
Study Contact Backup
- Name: Zeynep Inan, Physiotherapist
- Phone Number: +90 0539 356 8804
- Email: zeynep.inan@std.yeditepe.edu.tr
Study Locations
-
-
Istanbul
-
Istanbul, Istanbul, Turkey (Türkiye), 34755
- Yeditepe University
-
Contact:
- Zeynep Inan, Physiotherapist
- Phone Number: +90 0539 356 8804
- Email: zeynep.inan@std.yeditepe.edu.tr
-
Contact:
- Aslı Yeral, Assistant Professor
- Phone Number: +90 0537 965 8494
- Email: asli.yeral@yeditepe.edu.tr
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Description
Inclusion Criteria:
- Diagnosed with melorheostosis by a physician.
- Voluntarily agreeing to participate in the study and providing written informed consent.
- Being under physician follow-up for the disease.
- Being 18 years of age or older.
- Having the cognitive level, communication skills, and physical capacity to perform the planned exercise program.
Exclusion Criteria:
- Presence of additional systemic, rheumatologic, or metabolic diseases that could affect bone metabolism, other than melorheostosis.
- Presence of cardiovascular, pulmonary, or neurological disease at a level that may restrict exercising.
- History of surgical intervention or severe trauma within the last six months.
- Presence of psychiatric or cognitive disorders that could interfere with evaluation and exercise applications.
- Failure to continue the 8-week exercise program.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Experimental: Structured Physiotherapy and Rehabilitation Program Group (SPTR-G)
The target population of the study consists of a 24-year-old female case diagnosed with melorheostosis by a relevant physician, who voluntarily meets the inclusion criteria.
The study is designed as a single-case report and aims to evaluate the clinical and functional characteristics of the case.
The participant is actively working as a physiotherapist in her professional life.
Patient will receive patient education in addition to a structured exercise program.
The exercise program will include progressive strengthening, flexibility, and balance-based exercises.
Patient education will be delivered by targeting topics that encompass all components of the ICF framework.
In addition, diaphragmatic breathing will be taught to patients prior to the exercise program.
|
Patient will receive patient education in addition to a structured exercise program. The exercise program will include progressive strengthening, flexibility, and balance-based exercises. Patient education will be delivered by targeting topics that encompass all components of the ICF framework. In addition, diaphragmatic breathing will be taught to patients prior to the exercise program. The exercise program will be conducted three times per week for 8 weeks. Baseline assessments will be performed before the intervention, and post-intervention assessments will be repeated after completion of the program. Furthermore, evaluations will be conducted again during a 6-month follow-up period. |
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Pain Assessment
Time Frame: Baseline (Week 0), Post-intervention (Week 8), and Follow-up (Month 6)
|
The Visual Analog Scale (VAS) was used to evaluate pain intensity.
The location and severity of the pain will be questioned.
The individual's resting, activity, and nighttime pain levels were evaluated on a 10 cm horizontal line with the extremes of "0: no pain" and "10: unbearable pain".
Higher values indicate severe pain.
In this study, it is planned to be used to evaluate the pain intensity of the case.
|
Baseline (Week 0), Post-intervention (Week 8), and Follow-up (Month 6)
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
SF-12 Quality of Life Scale
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The SF-12 is a self-reported questionnaire used to assess health-related quality of life.
It evaluates both physical and mental health components, yielding two summary measures: the Physical Component Summary (PCS) and the Mental Component Summary (MCS).
Scores range from 0 to 100, where higher scores indicate a better level of health and a higher quality of life.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Passive Knee Extension (PKE) Test
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The PKE test is used to assess hamstring muscle flexibility.
The participant is positioned supine, with the non-tested limb stabilized and the tested hip fixed at 90 degrees of flexion.
As the knee is extended, the angle between the tibia and the vertical vector is measured using an inclinometer placed 15 cm distal to the tibial tuberosity.
The measurement is recorded in degrees (°).
A smaller angle relative to the vertical line indicates greater knee extension and better hamstring flexibility.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Ankle Active Range of Motion
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
Ankle AROM (dorsiflexion, plantarflexion, inversion, and eversion) is evaluated using a goniometer in standard anatomical positions.
For dorsiflexion and plantarflexion, the participant is seated with knees slightly flexed; the axis of the goniometer is placed over the lateral malleolus, the stationary arm parallel to the fibular line, and the moving arm parallel to the lateral aspect of the 5th metatarsal.
For inversion and eversion, the participant sits with legs hanging off the edge of the table; the axis is placed at the midpoint between the two malleoli, the stationary arm on the anterior surface of the tibia, and the moving arm parallel to the longitudinal axis of the 2nd metatarsal.
All measurements are recorded in degrees (°), with higher values indicating a greater active range of motion.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Quadriceps Flexibility / Ely's Test
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The Ely's test is used to assess the flexibility of the rectus femoris muscle.
With the participant in a prone position and the pelvis stabilized, the examiner passively flexes the knee to its maximal limit just before compensatory pelvic flexion occurs.
The maximum knee flexion angle is measured using a goniometer and recorded in degrees (°).
A higher degree of knee flexion indicates greater quadriceps flexibility.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Gastrocnemius-Soleus Muscle Flexibility Tests
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
Flexibility of the calf muscles is assessed by measuring ankle dorsiflexion range of motion using a goniometer in standing positions.
For the gastrocnemius, the participant stands facing a wall, keeps the tested knee fully extended, and shifts weight forward.
For the soleus, the participant assumes a weight-bearing lunge position with the tested knee flexed, keeping both heels firmly on the floor.
Measurements are recorded in degrees (°), with higher values representing greater muscle flexibility.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Weight-Bearing Lunge Test - WBLT
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The WBLT evaluates closed kinetic chain ankle dorsiflexion under a loaded, functional condition.
The participant performs a maximal forward lunge toward a wall, maintaining heel contact with the floor.
The angle between the tibia and the vertical axis is measured using a digital inclinometer placed 15 cm distal to the tibial tuberosity.
The measurement is recorded in degrees (°).
Higher angle values indicate greater dorsiflexion mobility.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Quadriceps Muscle Strength Measurement
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
Quadriceps strength is evaluated using a digital handheld myometer (dynamometer).
The participant is seated with legs hanging from the edge of the table, with both hip and knee positioned at 90 degrees of flexion.
The myometer is placed on the anterior surface of the tibia, approximately 5 cm proximal to the lateral malleolus.
The participant performs a maximal isometric knee extension for 5 seconds.
The peak force is recorded.
Higher values indicate greater quadriceps muscle strength.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Hamstring Muscle Strength Measurement
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
Hamstring strength is evaluated using a digital handheld myometer (dynamometer).
The participant is in a prone position, and the tested knee is passively brought to an angle of 30° to 45° of flexion.
The myometer is placed on the posterior surface of the tibia, just proximal to the heel (calcaneus).
The peak force is recorded.
Higher values indicate greater hamstring muscle strength.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Hip External Rotator Muscle Strength Measurement
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
Hip external rotator strength is evaluated using a digital handheld myometer.
The participant is assessed in a side-lying position with the knees flexed at 90 degrees.
The myometer is placed on the medial aspect of the leg, just proximal to the medial malleolus of the tested limb.
The peak force is recorded.
Higher values indicate greater hip external rotator muscle strength.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Y-Balance Test
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The Y-Balance Test evaluates dynamic balance.
The participant stands on one leg and reaches as far as possible with the contralateral leg in three directions: anterior, posteromedial, and posterolateral.
To standardize the measurements, the reach distances are normalized to the participant's lower limb length, measured from the anterior superior iliac spine (ASIS) to the medial malleolus.
Higher normalized composite scores indicate better dynamic balance and stability.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Feiss Line Test
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The Feiss Line Test evaluates the height of the medial longitudinal arch and static foot posture.
While the participant is seated (non-weight bearing) and then standing, the medial malleolus, navicular tubercle, and the center of the first metatarsophalangeal (MTP) joint are marked.
An imaginary line (Feiss Line) is drawn between the medial malleolus and the first MTP joint.
The position of the navicular tubercle relative to this line is examined to grade the arch height.
|
Baseline (Week 0), Week 8, and Month 6.
|
|
Navicular Drop Test
Time Frame: Baseline (Week 0), Week 8, and Month 6.
|
The Navicular Drop Test assesses excessive foot pronation and the dynamic stability of the medial longitudinal arch under load.
With the participant seated (non-weight bearing) and the subtalar joint in a neutral position, the height of the navicular tubercle from the floor is measured in millimeters.
The participant then stands with weight distributed evenly on both feet (weight-bearing position), and the measurement is repeated.
The difference between the two measurements is recorded as the navicular drop (in mm).
A higher drop value indicates greater dynamic foot pronation and reduced arch stability.
|
Baseline (Week 0), Week 8, and Month 6.
|
Collaborators and Investigators
Sponsor
Investigators
- Study Chair: Aslı Yeral, Asst. Prof. Dr., Yeditepe University
Publications and helpful links
General Publications
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- Soylu C, Kutuk B. Reliability and Validity of the Turkish Version of SF-12 Health Survey. Turk Psikiyatri Derg. 2022 Summer;33(2):108-117. doi: 10.5080/u25700. English, Turkish.
- Shultz SJ, Nguyen AD, Windley TC, Kulas AS, Botic TL, Beynnon BD. Intratester and intertester reliability of clinical measures of lower extremity anatomic characteristics: implications for multicenter studies. Clin J Sport Med. 2006 Mar;16(2):155-61. doi: 10.1097/00042752-200603000-00012.
- Sporndly-Nees S, Dasberg B, Nielsen RO, Boesen MI, Langberg H. The navicular position test - a reliable measure of the navicular bone position during rest and loading. Int J Sports Phys Ther. 2011 Sep;6(3):199-205.
- Westrick RB, Miller JM, Carow SD, Gerber JP. Exploration of the y-balance test for assessment of upper quarter closed kinetic chain performance. Int J Sports Phys Ther. 2012 Apr;7(2):139-47.
- Kawaguchi K, Taketomi S, Mizutani Y, Inui H, Yamagami R, Kono K, Takagi K, Kage T, Sameshima S, Tanaka S, Haga N. Hip Abductor Muscle Strength Deficit as a Risk Factor for Inversion Ankle Sprain in Male College Soccer Players: A Prospective Cohort Study. Orthop J Sports Med. 2021 Jul 26;9(7):23259671211020287. doi: 10.1177/23259671211020287. eCollection 2021 Jul.
- Cornwall MW, McPoil TG. Relationship between static foot posture and foot mobility. J Foot Ankle Res. 2011 Jan 18;4:4. doi: 10.1186/1757-1146-4-4.
- Dennis RJ, Finch CF, Elliott BC, Farhart PJ. The reliability of musculoskeletal screening tests used in cricket. Phys Ther Sport. 2008 Feb;9(1):25-33. doi: 10.1016/j.ptsp.2007.09.004. Epub 2007 Nov 8.
- Stott S. The Duncan-Ely test: time for standardization. Dev Med Child Neurol. 2015 Oct;57(10):895-6. doi: 10.1111/dmcn.12794. Epub 2015 May 6. No abstract available.
- Olivencia O, Godinez GM, Dages J, Duda C, Kaplan K, Kolber MJ, Kaplan, Kolber. THE RELIABILITY AND MINIMAL DETECTABLE CHANGE OF THE ELY AND ACTIVE KNEE EXTENSION TESTS. Int J Sports Phys Ther. 2020 Oct;15(5):776-782. doi: 10.26603/ijspt20200776.
- Ball P, Johnson GR. Technique for the measurement of hindfoot inversion and eversion and its use to study a normal population. Clin Biomech (Bristol). 1996 Apr;11(3):165-169. doi: 10.1016/0268-0033(95)00059-3.
- Konor MM, Morton S, Eckerson JM, Grindstaff TL. Reliability of three measures of ankle dorsiflexion range of motion. Int J Sports Phys Ther. 2012 Jun;7(3):279-87.
- Reurink G, Goudswaard GJ, Oomen HG, Moen MH, Tol JL, Verhaar JA, Weir A. Reliability of the active and passive knee extension test in acute hamstring injuries. Am J Sports Med. 2013 Aug;41(8):1757-61. doi: 10.1177/0363546513490650. Epub 2013 Jun 4.
- Liu H, Shen Y, Xiong Y, Zhou H, Mao Y, Shen Q, Hong W, Liu M, Liu Y, Qiu L, Zhang Z, Jia Y. Psychometric Properties of Four Common Clinical Tests for Assessing Hamstring Flexibility in Young Adults. Front Physiol. 2022 Jun 15;13:911240. doi: 10.3389/fphys.2022.911240. eCollection 2022.
- Shah CH, Brown JD. Reliability and Validity of the Short-Form 12 Item Version 2 (SF-12v2) Health-Related Quality of Life Survey and Disutilities Associated with Relevant Conditions in the U.S. Older Adult Population. J Clin Med. 2020 Feb 29;9(3):661. doi: 10.3390/jcm9030661.
- Harvey LA, Katalinic OM, Herbert RD, Moseley AM, Lannin NA, Schurr K. Stretch for the treatment and prevention of contracture: an abridged republication of a Cochrane Systematic Review. J Physiother. 2017 Apr;63(2):67-75. doi: 10.1016/j.jphys.2017.02.014. Epub 2017 Mar 14.
- Iordache S, Cursaru A, Serban B, Costache M, Spiridonica R, Cretu B, Cirstoiu C. Melorheostosis: A Review of the Literature and a Case Report. Medicina (Kaunas). 2023 Apr 30;59(5):869. doi: 10.3390/medicina59050869.
- Smith GC, Pingree MJ, Freeman LA, Matsumoto JM, Howe BM, Kannas SN, Pyfferoen MD, Struss LT, Wenger DE, Amrami KK, Matsumoto M, Jurisson ML. Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. PM R. 2017 Mar;9(3):283-288. doi: 10.1016/j.pmrj.2016.07.530. Epub 2016 Jul 30.
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- Fiore M, Bortoli M, Sambri A, Lotrecchiano L, Lovato L, Mirelli M, Neri I, De Paolis M, Piraccini BM, Gargiulo M. Soft Tissue Vascular Anomalies of the Extremities: A Proposed Diagnostic Approach. Life (Basel). 2024 May 23;14(6):670. doi: 10.3390/life14060670.
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- Appelman-Dijkstra N, Van Lierop A, Papapoulos S. SOST-Related Sclerosing Bone Dysplasias. 2002 Jun 4 [updated 2024 Aug 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK587318/
- Kumar R, Sankhala SS, Bijarnia I. Melorheostosis - Case Report of Rare Disease. J Orthop Case Rep. 2014 Apr-Jun;4(2):25-7. doi: 10.13107/jocr.2250-0685.162.
- Deshmukh NS, Phansopkar P. Melorheostosis: A Systematic Review of Clinical Manifestations, Diagnostic Challenges, Therapeutic Strategies, and Physiotherapeutic Interventions. Cureus. 2025 Mar 11;17(3):e80407. doi: 10.7759/cureus.80407. eCollection 2025 Mar.
- Deshmukh NS. Melorheostosis (Leri's Disease): A Review. Cureus. 2024 Jun 8;16(6):e61950. doi: 10.7759/cureus.61950. eCollection 2024 Jun.
Study record dates
Study Major Dates
Study Start (Estimated)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- yeditepe01
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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