Knowing and Treating Kosaki/Penttinen Syndromes (IKKoPeS)

July 18, 2023 updated by: Centre Hospitalier Universitaire Dijon

" 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.

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 Overview

Status

Not yet recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

All patients with KOGS or PS due to PDGFRB activating variants

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Untreated
Not treated with TKI
Treated
Treated with TKI

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Efficacy of TKI
Time Frame: Through the study completion, an average of 10 years.
Proportion of patients with improvement in quality of life under TKI treatment, expressed as percentages
Through the study completion, an average of 10 years.
Safety of TKI
Time Frame: Through the study completion, an average of 10 years.
Proportion of patients with side effects under TKI treatment, expressed as percentages
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.
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.
Through the study completion, an average of 10 years.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

October 1, 2023

Primary Completion (Estimated)

October 1, 2024

Study Completion (Estimated)

October 1, 2048

Study Registration Dates

First Submitted

June 19, 2023

First Submitted That Met QC Criteria

July 18, 2023

First Posted (Actual)

July 20, 2023

Study Record Updates

Last Update Posted (Actual)

July 20, 2023

Last Update Submitted That Met QC Criteria

July 18, 2023

Last Verified

July 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OLIVIER-FAIVRE 2023

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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