Outcomes of Patients With Osteopetrosis Weight-bearing Bone Fractures

What Are the Clinical and Radiological Outcomes of Open Reduction and Internal Fixation in Adult Patients With Osteopetrosis Weight-bearing Bone Fractures

Osteopetrosis is a rare genetic disorder characterized by the abnormal hardening and density of bones, leading to increased brittleness and susceptibility to fractures. This condition presents significant challenges in fracture management due to the altered bone architecture and compromised healing capacity. Open reduction and internal fixation (ORIF) is a common surgical technique employed to stabilize fractures, but its efficacy and outcomes in patients with osteopetrosis are not well-documented. This study aims to evaluate the clinical and radiological outcomes of ORIF in adult patients with weight-bearing bone fractures due to osteopetrosis, providing insights into the effectiveness and potential complications of this treatment approach.

Study Overview

• Status: Completed
• Conditions: Osteopetrosis
• Intervention / Treatment: Procedure: Open reduction and internal fixation

Detailed Description

Osteopetrosis, also known as marble bone disease, is a rare genetic disorder that leads to the abnormal hardening and densification of bones due to defective osteoclast-mediated bone resorption. This imbalance results in bones that are abnormally dense yet fragile and prone to fractures. Osteopetrosis is typically categorized into three major types based on severity and inheritance patterns: autosomal recessive infantile osteopetrosis, autosomal recessive intermediate osteopetrosis, and autosomal dominant adult osteopetrosis.

In adult patients, osteopetrosis often presents with a range of clinical manifestations including bone pain, frequent fractures, cranial nerve compression, and hematological abnormalities due to bone marrow space reduction. Weight-bearing bones such as the femur, tibia, and pelvis are particularly susceptible to fractures due to the mechanical stress they endure. These fractures pose significant clinical challenges because the dense bone structure complicates surgical intervention and delays healing.

Open reduction and internal fixation (ORIF) is a common surgical technique used to treat fractures by realigning and stabilizing the broken bones with hardware such as plates, screws, or rods. In the context of osteopetrosis, ORIF can be particularly challenging due to the sclerotic nature of the bone, which makes drilling and hardware placement difficult, and the poor vascularity, which can impede healing and increase the risk of complications such as nonunion or infection.

Despite these challenges, ORIF remains a critical option for managing fractures in osteopetrosis patients. Understanding the clinical and radiological outcomes of this intervention can help optimize treatment protocols and improve patient care. This case series aims to evaluate the outcomes of ORIF in adult patients with osteopetrosis-induced weight-bearing bone fractures. By examining factors such as fracture healing, functional recovery, and complication rates, this study seeks to provide valuable insights into the effectiveness and potential risks associated with ORIF in this unique patient population.

• Study Type: Interventional
• Enrollment (Actual): 6
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Egypt
  • Manial
    • Cairo, Manial, Egypt, 11956
      • Kasr Al Ainy-Cairo University- Faculty of Medicine

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

All patients with adult osteopetrosis above 18 years of age

Exclusion Criteria:

Non-weight-bearing fractures Non-osteopetrosis patients Pediatric patients Previous fracture surgery Concurrent bone conditions Inability to follow up Infection at fracture site Severe comorbidities Pregnancy Non-surgical treatment preference

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: open reduction and internal fixation; Open reduction and internal fixation (ORIF) is a common surgical technique used to treat fractures by realigning and stabilizing the broken bones with hardware such as plates, screws, or rods. In the context of osteopetrosis, ORIF can be particularly challenging due to the sclerotic nature of the bone, which makes drilling and hardware placement difficult, and the poor vascularity, which can impede healing and increase the risk of complications such as nonunion or infection.

Procedure: Open reduction and internal fixation; Open reduction and internal fixation of those with osteopetrosis and weight bearing fractures

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Bone union	We follow up the patients for bone union through radiological examination	6 months

Collaborators and Investigators

• Sponsor: Kasr El Aini Hospital

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2022
• Primary Completion (Actual): January 1, 2024
• Study Completion (Actual): June 24, 2024

Study Registration Dates

• First Submitted: July 22, 2024
• First Submitted That Met QC Criteria: July 22, 2024
• First Posted (Actual): July 26, 2024

Study Record Updates

• Last Update Posted (Actual): July 26, 2024
• Last Update Submitted That Met QC Criteria: July 22, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Wounds and Injuries; Musculoskeletal Diseases; Bone Diseases; Bone Diseases, Developmental; Osteochondrodysplasias; Osteosclerosis; Fractures, Bone; Osteopetrosis
• Other Study ID Numbers: N-375-2023

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: unless upon reasonable request

Drug and device information, study documents

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