Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)

NCT07575347 | Not Yet Recruiting

• 2 other identifiers: 12796PERIO-RA-RE_1
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus erythematosus (SLE), compared with chronic kidney disease (CKD) controls and population controls. This is a cross-sectional, case-control observational study. Participants will undergo a single structured evaluation including a full-mouth periodontal examination, a clinical questionnaire, and collection of relevant clinical and nephrological data. The primary objective is to compare the prevalence of periodontitis across study groups. Secondary objectives include characterization of periodontal disease severity, prevalence of gingivitis and xerostomia, and identification of disease-specific oral phenotypes. Exploratory analyses will assess associations between periodontal disease and clinical variables such as kidney function, proteinuria, and immunosuppressive exposure.

Conditions

Periodontal Disease; Periodontitis; CKD; Chronic Kidney Disease; Alport Syndrome; Fabry Disease; Lupus or SLE; Tuberous Sclerosis Complex (TSC); Systemic Lupus Erythematosus (SLE)

Keywords

Periodontal Disease; Periodontitis; CKD; Rare Kidney Diseases; Alport syndrome; Systemic Lupus Erythematosus; Tuberous Sclerosis Complex (TSC); Chronic Kidney Disease

Outcome Measures

Primary Outcomes (1)

• Prevalence of Periodontitis

  Prevalence of periodontitis defined according to the 2018 classification of periodontal diseases.

  At the single study visit (baseline)

Secondary Outcomes (7)

• Mean Probing Pocket Depth (PPD)

  At the single study visit (baseline)

• Mean Clinical Attachment Level (CAL)

  At the single study visit (baseline)

• Percentage of Sites with Probing Pocket Depth ≥6 mm

  At the single study visit (baseline)

• Percentage of Sites with Bleeding on Probing (BOP)

  At the single study visit (baseline)

• Prevalence of Gingivitis

  At the single study visit (baseline)

Study Arms (6)

Alport Syndrome

Patients with Alport syndrome confirmed by genetic testing or kidney biopsy

Other: Observational assessment

Fabry Disease

Patients with enzymatic or genetically confirmed Fabry disease

Other: Observational assessment

Tuberous Sclerosis Complex

Patients diagnosed with Tuberous Sclerosis Complex according to established clinical or genetic criteria

Other: Observational assessment

Systemic Lupus Erythematosus

Systemic lupus erythematosus defined according to EULAR/ACR 2019 classification criteria, with renal involvement defined by at least one of the following: * Biopsy-proven lupus nephritis * Persistent proteinuria (\>0.5 g/day or equivalent) * Active urinary sediment (hematuria and/or cellular casts) consistent with lupus nephritis

Other: Observational assessment

CKD Controls

Patients with chronic kidney disease of non-rare etiology

Other: Observational assessment

Population Controls

Individuals without known chronic kidney disease

Other: Observational assessment

Interventions

Observational assessment OTHER

Non-interventional observational assessment including periodontal examination and clinical data collection.

Alport Syndrome; CKD Controls; Fabry Disease; Population Controls; Systemic Lupus Erythematosus; Tuberous Sclerosis Complex

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult participants will be recruited from the Adult Nephrology Department of the Fundeni Clinical Institute, as well as from associated rare disease follow-up programs and dental or clinical care settings. The study population will include patients with Alport syndrome, Fabry disease, tuberous sclerosis complex, and systemic lupus erythematosus with renal involvement, as well as CKD controls with non-rare etiologies and non-CKD controls recruited from clinical or dental care settings. Participants will be enrolled consecutively based on eligibility criteria.

You may qualify if:

• Age ≥18 years
• Ability to provide written informed consent
• At least 10 natural teeth present
• Belonging to one of the predefined study groups:
• Alport syndrome (genetically or clinically confirmed)
• Fabry disease (enzymatically or genetically confirmed)
• Tuberous sclerosis complex (according to established clinical or genetic criteria)
• Systemic lupus erythematosus defined according to the 2019 EULAR/ACR or SLICC 2012 classification criteria, with renal involvement defined by at least one of the following: \[1\] Biopsy-proven lupus nephritis, \[2\] Persistent proteinuria (\>0.5 g/day or equivalent), \[3\] Active urinary sediment (hematuria and/or cellular casts) consistent with lupus nephritis
• Chronic kidney disease (CKD) of non-rare etiology: defined according to KDIGO criteria (eGFR \<60 ml/min/1.73 m² and/or markers of kidney damage)
• Individuals without CKD, recruited from clinical or dental care settings as non-CKD controls

You may not qualify if:

• Periodontal treatment within the last 6 months
• Antibiotic therapy within the last 4 weeks
• Pregnancy
• Conditions precluding periodontal examination
• Inability to comply with study procedures

Sponsors & Collaborators

• Stefan Lujinschi: lead
• Institutul Clinic Fundeni: collaborator

Study Sites (1)

Fundeni Clinical Institute

Bucharest, 022328, Romania

Location

MeSH Terms

Conditions

Periodontal Diseases; Periodontitis; Renal Insufficiency, Chronic; Nephritis, Hereditary; Fabry Disease; Lupus Erythematosus, Systemic; Tuberous Sclerosis

Condition Hierarchy (Ancestors)

Mouth Diseases; Stomatognathic Diseases; Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Urogenital Abnormalities; Nephritis; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Autoimmune Diseases; Immune System Diseases; Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Gener Ismail, Professor, MD, PhD

  Fundeni Clinical Institute

  STUDY CHAIR

• Bahtiar Ismail, MD, PhD

  Emergency University Hospital Bucharest

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Stefan N Lujinschi, MD, PhD candidate

CONTACT

+40728102643; stefanlujinschi@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: MD, PhD candidate

Study Record Dates

• First Submitted: May 3, 2026
• First Posted: May 8, 2026
• Study Start: May 4, 2026
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: May 8, 2026

Record last verified: 2026-05

Locations

RO (1)