Knowing and Treating Kosaki/Penttinen Syndromes
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Kosaki Overgrowth Syndrome, Penttinen Syndrome. Basic parameters: 0 years — 100 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
" Knowing & Treating Kosaki/Penttinen Syndromes " International Collaborative Consortium. A Real-life Observational Study on the Natural History of KOGS and PS and on the Efficacy and Safety Profile of TKIs in These Patients.
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.
Primary outcome measures
- Symptom's burden [Time frame: At various time points according to the type of symptom: from weekly to every 5 years]
Secondary outcome measures (4)
- Efficacy of TKI [Time frame: Through the study completion, an average of 10 years.]
- Safety of TKI [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.]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- CHU Dijon Bourgogne — Dijon
Identifiers
NCT: NCT05953857 · OLIVIER-FAIVRE 2023