Study of Infantile Lower Limb Malformations and Deformities (REMEDIA-I)

Observational Retrospective and Prospective Study of Infantile Lower Limb Malformations and Deformities

The skeletal defects of the lower limbs in pediatric age encompass various congenital and acquired conditions that alter bone structure. These alterations can be symmetrical or asymmetrical, with potential consequences such as deformities, short stature, and disability. These condictions may impact not only on the physical and the mental function of the children, but also on their family context.

Management often requires a multidisciplinary approach for early diagnosis and treatment. Deformities are heterogeneous and necessitate a personalized therapeutic plan.

Currently, in pediatric orthopedic surgery there is a lack of an instrument capable of evaluating all these aspects.

The advancement of computer-assisted surgery and artificial intelligence could improve treatment customization and involve patients and families in therapeutic decision-making to prevent complications. This study aims to provide support for clinical practice to promote a systematic, comprehensive, and sequential evaluation of lower limb deformities in developmental age, from which epidemiological data and evidence on treatment approaches used in major referral centers can be extrapolated.

Study Overview

• Status: Recruiting
• Conditions: Deformity of Limb
• Intervention / Treatment: Other: Conservative treatment; Procedure: Single or multi-stage surgery; Procedure: Amputation

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Giovanni Trisolino, MD; Phone Number: 484 0516366; Email: giovanni.trisolino@ior.it
• Study Contact Backup: Name: Alessandro Depaoli, MD; Email: alessandro.depaoli@ior.it

Study Locations

• Italy
  • Bologna, Italy, 40136
    • Recruiting
    • IRCCS Istituto Ortopedico Rizzoli
    • Contact: Giovanni Trisolino, MD; Phone Number: 484 05163666; Email: giovanni.trisolino@ior.it
  • Genova, Italy
    • Not yet recruiting
    • Istituto Giannina Gaslini
    • Contact: Giorgio Marrè Brunenghi, MD; Email: giorgiomarre@gaslini.org
  • Milan, Italy
    • Not yet recruiting
    • Galeazzi Orthopedic Institute
    • Contact: Fabio Verdoni, MD; Email: fabio.verdoni@grupposandonato.it
  • Pavia, Italy
    • Not yet recruiting
    • Policlinico San Matteo
    • Contact: Gianluigi Pasta, MD
  • Roma, Italy
    • Not yet recruiting
    • Istituto Nazionale Tumori Regina Elena
    • Contact: Roberto Biagini, MD; Email: roberto.biagini@ifo.it
  • Roma, Italy
    • Not yet recruiting
    • Ospedale Pediatrico Bambino Gesu
    • Contact: Pier Francesco Costici, MD; Email: pierfrancesco.costici@opbg.net
  • Rozzano, Italy
    • Not yet recruiting
    • Istituto Clinico Humanitas
    • Contact: Tommaso Bonanzinga, MD; Email: tommaso.bonanzinga@hunimed.eu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with congenital or acquired deformity of one or both lower limb diagnosed before skeletal maturity.

Description

Inclusion Criteria:

• Age < 18 years at the time of initial orthopedic evaluation
• Diagnosis of congenital or acquired musculoskeletal deformity to one or both lower limbs
• Presence of informed consent to participate in the study

Exclusion Criteria:

• Refuse to participate in the study by the patient or parent/legal guardian
• Patients with mild paramorphisms not associated with functional limitations

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Children and adolescent with lower limb deformities

Other: Conservative treatment; Patients are provided with physiotherapy support and the provision of prostheses with the goal of ensuring as much walking functionality as possible.; Procedure: Single or multi-stage surgery; Correction of the deformity is pursued by one or more surgical procedures with the timing and the techniques (growth modulation, acute correction, gradual correction, soft tissues procedures, combined techniques) chosen according to the surgeon's preference to achieve the maximum possible walking functionality without orthopedic aids.; Procedure: Amputation; Limb surgery, whether or not associated with realignment or soft-tissue surgery, is performed, aimed at providing the maximum possible walking function through a prosthesis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Pediatric Outcomes Data Collection Instrument	The scores, reported by the child and the caregiver, on the items of the questionnaire, which includes upper extremity (UE), transfer/basic mobility (TBM), happiness (Hap), sports/physical function (SPF), pain/comfort (PC)	At baseline (day 0)
Pediatric Outcomes Data Collection Instrument	The scores, reported by the child and the caregiver, on the items of the questionnaire, which includes upper extremity (UE), transfer/basic mobility (TBM), happiness (Hap), sports/physical function (SPF), pain/comfort (PC)	After 1 year
Clinical examination with complete assessment of lower limbs	Full assessment of parameters about lower limb alignment	At baseline (day 0)
Clinical examination with complete assessment of lower limbs	Full assessment of parameters about lower limb alignment	After 1 year
Mental Health	The Short Form (36) Health Survey is a 36-item, patient-reported survey of patient health.	At baseline (day 0)
Mental Health	The Short Form (36) Health Survey is a 36-item, patient-reported survey of patient health.	After 1 year

Collaborators and Investigators

• Sponsor: Istituto Ortopedico Rizzoli
• Collaborators: Istituto Clinico Humanitas; Istituto Giannina Gaslini; Ospedale Pediatrico Bambino Gesù; Galeazzi Orthopedic Institute; Istituto Nazionale Tumori Regina Elena; Policlinico San Matteo
• Investigators: Principal Investigator: Pierfrancesco Costici, MD, Ospedale Pediatrico Bambin Gesù; Principal Investigator: Giorgio Marrè Brunenghi, MD, Istituto Giannina Gaslini; Principal Investigator: Fabio Verdoni, MD, Galeazzi Orthopedic Institute; Principal Investigator: Roberto Biagini, MD, Istituto Nazionale Tumori Regina Elena; Principal Investigator: Gianluigi Pasta, MD, Policlinico San Matteo; Principal Investigator: Tommaso Bonanzinga, MD, Istituto Clinico Humanitas

Publications and helpful links

General Publications

• Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O'Neal L, McLeod L, Delacqua G, Delacqua F, Kirby J, Duda SN; REDCap Consortium. The REDCap consortium: Building an international community of software platform partners. J Biomed Inform. 2019 Jul;95:103208. doi: 10.1016/j.jbi.2019.103208. Epub 2019 May 9.
• Herring J, Tachdjian's Pediatric Orthopaedics: From the Texas Scottish Rite Hospital for Children, 6th edition. Elsevier, 2020.
• Sabharwal S. Pediatric Lower Limb Deformities: Principles and Techniques of Management. Springer 2015.
• Gupta P, Gupta V, Patil B, Verma V. Angular deformities of lower limb in children: Correction for whom, when and how? J Clin Orthop Trauma. 2020 Mar-Apr;11(2):196-201. doi: 10.1016/j.jcot.2020.01.008. Epub 2020 Jan 27.
• Chhina H, Klassen AF, Kopec JA, Oliffe J, Iobst C, Dahan-Oliel N, Aggarwal A, Nunn T, Cooper AP. What matters to children with lower limb deformities: an international qualitative study guiding the development of a new patient-reported outcome measure. J Patient Rep Outcomes. 2021 Apr 1;5(1):30. doi: 10.1186/s41687-021-00299-w.
• Iobst C. Limb lengthening combined with deformity correction in children with the Taylor Spatial Frame. J Pediatr Orthop B. 2010 Nov;19(6):529-34. doi: 10.1097/BPB.0b013e32833dec43.
• Frizziero L, Santi GM, Liverani A, Napolitano F, Papaleo P, Maredi E, Gennaro GLD, Zarantonello P, Stallone S, Stilli S, et al. Computer-Aided Surgical Simulation for Correcting Complex Limb Deformities in Children. Applied Sciences. 2020; 10(15):5181.
• Blobel B, Ruotsalainen P, Oemig F, Giacomini M, Sottile PA, Endsleff F. Principles and Standards for Designing and Managing Integrable and Interoperable Transformed Health Ecosystems. J Pers Med. 2023 Nov 4;13(11):1579. doi: 10.3390/jpm13111579.
• Stuberg W, Temme J, Kaplan P, Clarke A, Fuchs R. Measurement of tibial torsion and thigh-foot angle using goniometry and computed tomography. Clin Orthop Relat Res. 1991 Nov;(272):208-12.
• Beighton P, Horan F. Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br. 1969 Aug;51(3):444-53. No abstract available.
• Dodwell ER, Pathy R, Widmann RF, Green DW, Scher DM, Blanco JS, Doyle SM, Daluiski A, Sink EL. Reliability of the Modified Clavien-Dindo-Sink Complication Classification System in Pediatric Orthopaedic Surgery. JB JS Open Access. 2018 Oct 23;3(4):e0020. doi: 10.2106/JBJS.OA.18.00020. eCollection 2018 Dec 20.

Study record dates

Study Major Dates

• Study Start (Actual): October 31, 2024
• Primary Completion (Estimated): May 1, 2028
• Study Completion (Estimated): May 1, 2029

Study Registration Dates

• First Submitted: May 6, 2024
• First Submitted That Met QC Criteria: July 22, 2024
• First Posted (Actual): July 25, 2024

Study Record Updates

• Last Update Posted (Actual): December 26, 2025
• Last Update Submitted That Met QC Criteria: December 19, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: Patient Reported Outcomes; Deformity; Pediatric orthopedics
• Additional Relevant MeSH Terms: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Congenital Abnormalities; Therapeutics; Surgical Procedures, Operative; Socioeconomic Factors; Population Characteristics; Demography; Orthopedic Procedures; Family Characteristics; Marital Status; Conservative Treatment; Single Person; Amputation, Surgical
• Other Study ID Numbers: REMEDIA-I

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No