MedTrace Logo

Knowing and Treating Kosaki/Penttinen Syndromes

NCT05953857 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2023-07-20

No results posted yet for this study

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.

Conditions

  • Kosaki Overgrowth Syndrome
  • Penttinen Syndrome

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Min Age
0 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-10-31
Primary Completion
2024-10-31
Completion
2048-10-31

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05953857 on ClinicalTrials.gov