NCT07521150

Brief Summary

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1

participants targeted

Target at below P25 for not_applicable

Timeline
1mo left

Started Apr 2026

Shorter than P25 for not_applicable

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress67%
Apr 2026Sep 2026

First Submitted

Initial submission to the registry

March 16, 2026

Completed
24 days until next milestone

First Posted

Study publicly available on registry

April 9, 2026

Completed
9 days until next milestone

Study Start

First participant enrolled

April 18, 2026

Completed
1 month until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 19, 2026

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 22, 2026

Expected
Last Updated

June 26, 2026

Status Verified

June 1, 2026

Enrollment Period

1 month

First QC Date

March 16, 2026

Last Update Submit

June 23, 2026

Conditions

Keywords

Physical TherapyRehabilitationSclerosing Bone DiseaseCase ReportExercise

Outcome Measures

Primary Outcomes (1)

  • Pain Assessment

    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 Outcomes (12)

  • SF-12 Quality of Life Scale

    Baseline (Week 0), Week 8, and Month 6.

  • Passive Knee Extension (PKE) Test

    Baseline (Week 0), Week 8, and Month 6.

  • Ankle Active Range of Motion

    Baseline (Week 0), Week 8, and Month 6.

  • Quadriceps Flexibility / Ely's Test

    Baseline (Week 0), Week 8, and Month 6.

  • Gastrocnemius-Soleus Muscle Flexibility Tests

    Baseline (Week 0), Week 8, and Month 6.

  • +7 more secondary outcomes

Study Arms (1)

Structured Physiotherapy and Rehabilitation Program Group (SPTR-G)

EXPERIMENTAL

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.

Other: Assigned Interventions

Interventions

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.

Structured Physiotherapy and Rehabilitation Program Group (SPTR-G)

Eligibility Criteria

Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Yeditepe University

Istanbul, 34755, Turkey (TĂ¼rkiye)

Location

Related Publications (31)

  • 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.

  • Bennell KL, Talbot RC, Wajswelner H, Techovanich W, Kelly DH, Hall AJ. Intra-rater and inter-rater reliability of a weight-bearing lunge measure of ankle dorsiflexion. Aust J Physiother. 1998;44(3):175-180. doi: 10.1016/s0004-9514(14)60377-9.

  • 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.

  • Carlsson AM. Assessment of chronic pain. I. Aspects of the reliability and validity of the visual analogue scale. Pain. 1983 May;16(1):87-101. doi: 10.1016/0304-3959(83)90088-X.

  • 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.

  • Byberg S, Abrahamsen B, Kassem M, Ralston S, Schwarz P. Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report. J Med Case Rep. 2018 Sep 27;12(1):278. doi: 10.1186/s13256-018-1820-y.

  • Slimani S, Nezzar A, Makhloufi H. Successful treatment of pain in melorheostosis with zoledronate, with improvement on bone scintigraphy. BMJ Case Rep. 2013 Jun 21;2013:bcr2013009820. doi: 10.1136/bcr-2013-009820.

  • Judkiewicz AM, Murphey MD, Resnik CS, Newberg AH, Temple HT, Smith WS. Advanced imaging of melorheostosis with emphasis on MRI. Skeletal Radiol. 2001 Aug;30(8):447-53. doi: 10.1007/s002560100366.

  • Kang H, Jha S, Deng Z, Fratzl-Zelman N, Cabral WA, Ivovic A, Meylan F, Hanson EP, Lange E, Katz J, Roschger P, Klaushofer K, Cowen EW, Siegel RM, Marini JC, Bhattacharyya T. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. 2018 Apr 11;9(1):1390. doi: 10.1038/s41467-018-03720-z.

  • 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.

  • Butler RJ, Lehr ME, Fink ML, Kiesel KB, Plisky PJ. Dynamic balance performance and noncontact lower extremity injury in college football players: an initial study. Sports Health. 2013 Sep;5(5):417-22. doi: 10.1177/1941738113498703.

  • Myles PS, Troedel S, Boquest M, Reeves M. The pain visual analog scale: is it linear or nonlinear? Anesth Analg. 1999 Dec;89(6):1517-20. doi: 10.1097/00000539-199912000-00038.

  • Freyschmidt J. Melorheostosis: a review of 23 cases. Eur Radiol. 2001;11(3):474-9. doi: 10.1007/s003300000562.

  • 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.

  • 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.

MeSH Terms

Conditions

MelorheostosisMotor Activity

Condition Hierarchy (Ancestors)

OsteosclerosisOsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesBehavior

Study Officials

  • Aslı Yeral, Asst. Prof. Dr.

    Yeditepe University

    STUDY CHAIR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 16, 2026

First Posted

April 9, 2026

Study Start

April 18, 2026

Primary Completion

May 19, 2026

Study Completion (Estimated)

September 22, 2026

Last Updated

June 26, 2026

Record last verified: 2026-06

Data Sharing

IPD Sharing
Will not share

Individual participant data (IPD) will not be shared to protect the privacy of the single participant involved in this case report.

Locations