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Identification and Characterization of Rare Genetic Variants in Families with Severe Early Onset Periodontitis

Identification and Characterization of Rare Genetic Variants in Families with Severe Early Onset Periodontitis

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00036892
Enrollment
240
Registered
2025-05-14
Start date
2024-09-01
Completion date
Unknown
Last updated
2025-10-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Early-onset severe periodontitis (Stage III-IV, Grade C

Interventions

Group 1: Patients with very early-onset severe periodontitis (EOPD
stage III/IV, grade C, onset =20 years). A saliva sample is taken for genetic testing (whole exome/genome sequencing) to identify rare disease-associated variants. For follow-up experiments, an additi

Sponsors

Charité - Universitätsmedizin Berlin, Abteilung für Parodontologie, Oralmedizin und Oralchirurgie
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: - severe periodontitis (stage III or IV, grade C) - age of onset up to and including 20 years - 1st and 2nd degree relatives regardless of diagnosis

Exclusion criteria

Exclusion criteria: No biological relationship between the family members, e.g. in the case of adoption.

Design outcomes

Primary

MeasureTime frame
This study is a non-interventional, genetic-epidemiological observational study. No therapeutic measures are investigated or compared, therefore no clinical endpoints in the conventional sense are defined. Instead, the study focuses on genetic and molecular biological findings. Primary endpoint (objectives): Identification and molecular characterization of rare genetic variants associated with early-onset severe periodontitis (EOPD) using saliva samples from affected patients and their relatives (Whole Exome or Whole Genome Sequencing).

Secondary

MeasureTime frame
Secondary endpoints (objectives): - Investigation of familial inheritance patterns of the identified variants. - Bioinformatic and molecular biological analysis of potentially disease-relevant molecular effects. - Exploratory identification of predictive diagnostic markers and potential therapeutic targets.

Countries

Austria, Germany, Turkey

Contacts

Public ContactGesa Richter

Charité - Universitätsmedizin Berlin, Abteilung für Parodontologie, Oralmedizin und Oralchirurgie

gesa.richter@charite.de+49 30 450 562 236

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026