IKKoPeS: Knowing and Treating Kosaki/Penttinen Syndromes
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
|
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Untreated Not treated with TKI |
|
| Treated Treated with TKI |
Outcome Measures
Primary Outcome Measures
- 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
- 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
- Safety of TKI [Through the study completion, an average of 10 years.]
Proportion of patients with side effects under TKI treatment, expressed as percentages
- Percentage of patients whose follow-up complies with recommendations [Through the study completion, an average of 10 years.]
- Percentage of patients whose TKI has been chosen according to cellular studies [Through the study completion, an average of 10 years.]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Clinical diagnosis of Kosaki or Penttinen syndrome
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Molecular diagnosis of an activating variant in PDGFRB gene
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Patient who has been informed and provide a written informed consent
Exclusion Criteria:
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Absence of clinical diagnosis of Kosaki or Penttinen syndrome
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Absence of molecular diagnosis of an activating variant in the PDGFRB gene.
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Patient who has not been informed and/or did not provide a written informed consent.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | CHU Dijon Bourgogne | Dijon | France |
Sponsors and Collaborators
- Centre Hospitalier Universitaire Dijon
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- OLIVIER-FAIVRE 2023