Knowing and Treating Kosaki/Penttinen Syndromes

Not yet recruiting

• Conditions: Kosaki Overgrowth Syndrome; Penttinen Syndrome

• Registration Number: NCT05953857
• Lead Sponsor: Centre Hospitalier Universitaire Dijon

Brief Summary

Kosaki overgrowth syndrome (KOGS) and Penttinen syndrome (PS) are extremely rare multisystem disorders caused by heterozygous activating variants of the PDGFRB gene. KOGS results in characteristic craniofacial, orthopedic, skin and neurological disorders. PS is a progeroid disease responsible for a prematurely aged appearance. Patients suffer significant morbidity and mortality due to various complications. Tyrosine Kinase Inhibitors (TKIs) targeting PGDFRB appear to be a potential treatment option, as evidenced by a few case reports showing clinical improvement in some patients, with modest and self-resolving side effects. The natural history of these two syndromes remains poorly understood as only case-reports have been published.

Therefore, an international consortium was created in December 2019 by Pr FAIVRE (CHU Dijon Bourgogne \& ERN ITHACA) to follow treated and untreated patients in a real-life, multicentre, observational study, in order to expand our knowledge of these ultra-rare diseases. In the longer term, we believe that TKIs could bring clinical benefit to KOGS/PS patients.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-06-19
• Status Verified: 2023-07
• Study First Submitted QC: 2023-07-18
• Last Update Submitted: 2023-07-18
• Study First Posted: 2023-07-20
• Last Update Posted: 2023-07-20
• Study Start: 2023-10
• Primary Completion: 2024-10
• Study Completion: 2048-10

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

• Clinical diagnosis of Kosaki or Penttinen syndrome
• Molecular diagnosis of an activating variant in PDGFRB gene
• Patient who has been informed and provide a written informed consent

Exclusion Criteria

• Absence of clinical diagnosis of Kosaki or Penttinen syndrome
• Absence of molecular diagnosis of an activating variant in the PDGFRB gene.
• Patient who has not been informed and/or did not provide a written informed consent.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Symptom's burden	At various time points according to the type of symptom: from weekly to every 5 years	Symptoms: type, severity, date of appearance, evolution

Secondary Outcome Measures

Name	Time	Method
Safety of TKI	Through the study completion, an average of 10 years.	Proportion of patients with side effects under TKI treatment, expressed as percentages
Efficacy of TKI	Through the study completion, an average of 10 years.	Proportion of patients with improvement in quality of life under TKI treatment, expressed as percentages
Percentage of patients whose TKI has been chosen according to cellular studies	Through the study completion, an average of 10 years.
Percentage of patients whose follow-up complies with recommendations	Through the study completion, an average of 10 years.

Trial Locations

Locations (1)

CHU Dijon Bourgogne; 🇫🇷 Dijon, France