Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital

NCT07173010 | Not Yet Recruiting

• 1 other identifier: Non inflammatory arthropathy
• Study Type: observational
• Target: 35
• Locations: 0 countries
• Sites: N/A

Brief Summary

To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve diagnostic precision, guide appropriate management, and distinguish these conditions from inflammatory joint diseases.

Conditions

Mucopolysaccharidoses; Progressive Pseudorheumatoid Dysplasia; Farber Disease; Osteogenesis Imperfecta; Infantile Systemic Hyalinosis; Idiopathic Multicentric Osteolysis

Outcome Measures

Primary Outcomes (1)

• To diagnose most common causes of non inflammatory arthropathy

  To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve diagnostic precision, guide appropriate management, and distinguish these conditions from inflammatory joint diseases

  1year

Secondary Outcomes (1)

• To avoid misdiagnosis as inflammatory arthropathy

  1year

Eligibility Criteria

• Age: 1 Day - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study will include all pediatric patients presented with non inflammatory arthropathy based on clinical manifestations, laboratory investigations and imaging up to age of 18 years in the last 3 years (retrospective) and those who will present newly through a duration of one year (preospective). They will be recruited from the inpatient and outpatient clinic of Allergy, Immunology and Rheumatology department at Assuit University Children's hospital.

You may qualify if:

• Infants and children up to 18 years at diagnosis.
• Patients presents with picture of non inflammatory arthropathy as joint deformity, stiffness and skeletal abnormality (arthropathy) with normal inflammatory markers

You may not qualify if:

• Patients more than 18years.
• Patients presents with painful,hot, tender or red joints (Arthritis) associated with elevated inflammatory markers .

Sponsors & Collaborators

• Assiut University: lead

Related Publications (11)

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  PMID: 11380756 BACKGROUND

• Emerson GG, Segal SS. Endothelial cell pathway for conduction of hyperpolarization and vasodilation along hamster feed artery. Circ Res. 2000 Jan 7-21;86(1):94-100. doi: 10.1161/01.res.86.1.94.

  PMID: 10625310 BACKGROUND

• Sands MS. Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology. EMBO Mol Med. 2013 Jun;5(6):799-801. doi: 10.1002/emmm.201302781. Epub 2013 May 13. No abstract available.

  PMID: 23666771 BACKGROUND

• Maatallah K, Boussaa H, Lassoued Ferjani H, Kaffel D, Hamdi W. Progressive pseudorheumatoid dysplasia: A rare entity mimicking juvenile idiopathic arthritis. Clin Case Rep. 2021 Aug 16;9(8):e04670. doi: 10.1002/ccr3.4670. eCollection 2021 Aug.

  PMID: 34430024 BACKGROUND

• Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v4-12. doi: 10.1093/rheumatology/ker394.

  PMID: 22210669 BACKGROUND

• Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26.

  PMID: 28595941 BACKGROUND

• Ablin DS. Osteogenesis imperfecta: a review. Can Assoc Radiol J. 1998 Apr;49(2):110-23.

  PMID: 9561014 BACKGROUND

• Carnevale A, Canun S, Mendoza L, del Castillo V. Idiopathic multicentric osteolysis with facial anomalies and nephropathy. Am J Med Genet. 1987 Apr;26(4):877-86. doi: 10.1002/ajmg.1320260415.

  PMID: 3591830 BACKGROUND

• Tasar M, Eyileten Z, Kasimzade F, Ucar T, Kendirli T, Uysalel A. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Turk J Pediatr. 2014 Nov-Dec;56(6):684-6.

  PMID: 26388606 BACKGROUND

• Bhavani GS, Shah H, Shukla A, Dalal A, Girisha KM. Progressive Pseudorheumatoid Dysplasia. 2015 Nov 25 [updated 2020 Dec 23]. 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/NBK327267/

  PMID: 26610319 BACKGROUND

• Al-Mayouf SM. Noninflammatory disorders mimic juvenile idiopathic arthritis. Int J Pediatr Adolesc Med. 2018 Mar;5(1):1-4. doi: 10.1016/j.ijpam.2018.01.004. Epub 2018 Feb 24.

  PMID: 30805524 BACKGROUND

Related Links

• National Institute of Arthritis and Musculoskeletal and Skin Diseases. Arthritis . Bethesda (MD): National Institutes of Health; 2022 Nov.

MeSH Terms

Conditions

Mucopolysaccharidoses; Arthropathy, progressive pseudorheumatoid, of childhood; Farber Lipogranulomatosis; Osteogenesis Imperfecta; Hyaline Fibromatosis Syndrome; Osteolysis, Essential

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Collagen Diseases; Skin Diseases, Genetic; Skin Diseases; Osteolysis; Bone Resorption

Central Study Contacts

Nora Ammar Shawket

CONTACT

+201129859299; nrnr87355@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: September 6, 2025
• First Posted: September 15, 2025
• Study Start: September 1, 2025
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): October 1, 2026
• Last Updated: September 15, 2025

Record last verified: 2025-09