Kosaki Overgrowth SyndromeIKKoPeSNCT05953857
Knowing and Treating Kosaki/Penttinen Syndromes
An observational study of Kosaki Overgrowth Syndrome and Penttinen Syndrome, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 100 years
- Conditions the study is for
- Kosaki Overgrowth Syndrome, Penttinen Syndrome
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- Oct 2023to Oct 2048
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 100 years
- All sexes
- Child, Adult, Older adult
Study population: All patients with KOGS or PS due to PDGFRB activating variants
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
CHU Dijon Bourgogne
Dijon
Laurence FAIVRE, 0033380295313, laurence.faivre@chu-dijon.fr
About this study
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.
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
- Medical subject headings
- Penttinen-Aula syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Untreated | Not treated with TKI | |
| Treated | Treated with TKI |
What is being measured
The primary outcome is the main question the study is designed to answer.
Symptom's burden
Symptoms: type, severity, date of appearance, evolution
Measured: At various time points according to the type of symptom: from weekly to every 5 years
Secondary outcomes (4)
Efficacy of TKI
Proportion of patients with improvement in quality of life under TKI treatment, expressed as percentages
Measured: Through the study completion, an average of 10 years.
Safety of TKI
Proportion of patients with side effects under TKI treatment, expressed as percentages
Measured: Through the study completion, an average of 10 years.
Percentage of patients whose follow-up complies with recommendations
Measured: Through the study completion, an average of 10 years.
Percentage of patients whose TKI has been chosen according to cellular studies
Measured: Through the study completion, an average of 10 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2023
- Study startOct 2023 (estimated)
- Primary completionOct 2024 (estimated)
- Study completionOct 2048 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Kosaki Overgrowth SyndromeStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05953857
- Sponsor's protocol ID
- OLIVIER-FAIVRE 2023
- Acronym
- IKKoPeS
- Status last verified
- Jul 2023
- First submitted
- 19 Jun 2023
- Last updated
- 20 Jul 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT05953857
- Acronym / sponsor ID
- IKKoPeS / OLIVIER-FAIVRE 2023
- Conditions
- Kosaki Overgrowth Syndrome, Penttinen Syndrome
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- Oct 2023 (estimated)
- Primary completion
- Oct 2024 (estimated)
- Study completion
- Oct 2048 (estimated)
- First posted
- 20 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Untreated | – | –Not treated with TKI |
| Treated | – | –Treated with TKI |
Who may qualify
- Ages
- 0 to 100 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with KOGS or PS due to PDGFRB activating variants
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
4 secondary outcomes
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jul 2023.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Kosaki Overgrowth Syndrome and Penttinen Syndrome, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 20 Jul 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Laurence FAIVRE (0033380295313, laurence.faivre@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Symptom's burden (time frame: At various time points according to the type of symptom: from weekly to every 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Jul 2023.