Knowing and Treating Kosaki/Penttinen Syndromes

N/ANot Yet RecruitingNCT05953857

Centre Hospitalier Universitaire Dijon30 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Kosaki Overgrowth Syndrome Penttinen Syndrome

Eligibility

Sex: ALLMin age: 0 YearsMax age: 100 Years

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

Symptom's burden

Symptoms: type, severity, date of appearance, evolution

Time frame: At various time points according to the type of symptom: from weekly to every 5 years

Secondary Outcomes

Efficacy of TKI

Proportion of patients with improvement in quality of life under TKI treatment, expressed as percentages

Time frame: Through the study completion, an average of 10 years.

Safety of TKI

Proportion of patients with side effects under TKI treatment, expressed as percentages

Time frame: Through the study completion, an average of 10 years.

Percentage of patients whose follow-up complies with recommendations

Time frame: Through the study completion, an average of 10 years.

Percentage of patients whose TKI has been chosen according to cellular studies

Time frame: Through the study completion, an average of 10 years.

Knowing and Treating Kosaki/Penttinen Syndromes

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts