X-Linked Hypophosphatemic RicketsFLAM-XLHNCT06248632
Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH
An observational study of X-Linked Hypophosphatemic Rickets, run by Hospices Civils de Lyon.
Trial summary
X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene. XLH is associated with a wide range of clinical manifestations in children and adults, all of which can impact on their health-related quality… Read more about this study
- Who is it for?
- Ages 0 to 99 years
- Conditions the study is for
- X-Linked Hypophosphatemic Rickets
- What is being tested?
- Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)
- How many people
- 20 participants
- Where
- No sites listed yet
- Study dates
- 1 Apr 2024to 1 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients will be recruited from the Calcium and Phosphate Metabolism Reference Centre: * Lyon paediatrics: Femme Mère Enfant hospital (Pr Bacchetta): 20 patients followed * Lyon adult section: Edouard Herriot Hospital (Pr S Lemoine, Nephrologist + Dr Vignot, Rheumatologist): 30 patients followed. 20 patients will be included in the study. The investigators therefore believe that recruitment is fully feasible over 12 months.
Who may be able to join
- Children and adults with genetically confirmed XLH followed at the Lyon Reference Centre for Rare Calcium, Phosphorus and Magnesium Diseases
- Patients treated with Burosumab
- Patients >12 kg.
- Patients and parent/guardian who have been informed of the study and who do not object to participate
Who cannot join
- Patients undergoing treatment with oral corticosteroids, or who have received more than 3 months of corticosteroid therapy in the past.
- Patients who have received or are currently receiving immunosuppressive therapy.
- Patients suffering from an inflammatory disease
- Pregnant or breast-feeding women
- Persons deprived of their liberty by judicial or administrative decision
- Persons not affiliated to a social security scheme or beneficiaries of a similar scheme
Trial locations and contacts
No sites are listed yet.
About this study
X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene. XLH is associated with a wide range of clinical manifestations in children and adults, all of which can impact on their health-related quality of life.
Conventional treatment (or standard of care, SOC) consists of phosphate supplementation and active vitamin D analogues. The management of patients with XLH has been modified in France since 2018 with the authorisation of the anti-FGF23 antibody, burosumab, in paediatrics (and in 2020 in adults).
Read more
A propensity for overweight/obesity has recently been demonstrated in these patients. Could extra-skeletal effects of FGF23, in particular on the inflammatory profile of patients, be responsible for these manifestations? Obesity has been associated with inflammation in other populations. In terms of inflammation, there is a close link between FGF23 and inflammation: inflammatory cytokines increase the production of FGF23, which in turn increases inflammation by stimulating the production of inflammatory cytokines. Osteoclastogenesis and inflammation are linked and inflammation has been shown to increase bone resorption.
In a recent study, the investigators showed that osteoclastogenesis was significantly impaired in cells obtained from XLH patients compared with control patients, and that osteoclasts obtained from XLH children showed higher gene expression of inflammatory markers than controls. Interestingly, no difference was observed in circulating monocytic cells between the two patient subgroups, conservative treatment and burosumab, whereas the inflammatory profile at the end of osteoclastic differentiation was reduced in cells derived from patients receiving burosumab.
The aim of this study is therefore to investigate the inflammatory profile of circulating monocytic cells on the day of burosumab injection (D0) and seven days later (peak effect of anti-FGF23).
- Conditions
- X-Linked Hypophosphatemic Rickets
- Being tested
- Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)
- Keywords
- XLH, Burosumab, inflammation
- Medical subject headings
- Familial Hypophosphatemic Rickets, Inflammation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)Other
Expression of inflammatory markers obtained from circulating monocytic cells of XLH
| Study group | Role | What they receive |
|---|---|---|
| Patients with genetically confirmed XLH diagnosis treated with bursosumab | Blood sampling at D0 and D7 for monocytic cell extraction in vitro Receives: Other: Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R) obtained from circulating monocytic cells of XLH patients treated with burosumab, before and 7 days after injection.
Measured: Day 7
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Feb 2024
- Study start1 Apr 2024 (estimated)
- Primary completion1 Apr 2025 (estimated)
- Study completion1 Apr 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-Linked Hypophosphatemic RicketsStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Justine Pr BACCHETTA, Pr, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06248632
- Sponsor's protocol ID
- 69HCL23_1216
- Acronym
- FLAM-XLH
- Status last verified
- Mar 2024
- First submitted
- 31 Jan 2024
- Last updated
- 6 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH
- ClinicalTrials.gov ID
- NCT06248632
- Acronym / sponsor ID
- FLAM-XLH / 69HCL23_1216
- Conditions
- X-Linked Hypophosphatemic Rickets
- Keywords
- XLH, Burosumab, inflammation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 1 Apr 2024 (estimated)
- Primary completion
- 1 Apr 2025 (estimated)
- Study completion
- 1 Apr 2025 (estimated)
- First posted
- 8 Feb 2024 (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.
X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene. XLH is associated with a wide range of clinical manifestations in children and adults, all of which can impact on their health-related quality of life.
Conventional treatment (or standard of care, SOC) consists of phosphate supplementation and active vitamin D analogues. The management of patients with XLH has been modified in France since 2018 with the authorisation of the anti-FGF23 antibody, burosumab, in paediatrics (and in 2020 in adults).
A propensity for overweight/obesity has recently been demonstrated in these patients. Could extra-skeletal effects of FGF23, in particular on the inflammatory profile of patients, be responsible for these manifestations? Obesity has been associated with inflammation in other populations. In terms of inflammation, there is a close link between FGF23 and inflammation: inflammatory cytokines increase the production of FGF23, which in turn increases inflammation by stimulating the production of inflammatory cytokines. Osteoclastogenesis and inflammation are linked and inflammation has been shown to increase bone resorption.
In a recent study, the investigators showed that osteoclastogenesis was significantly impaired in cells obtained from XLH patients compared with control patients, and that osteoclasts obtained from XLH children showed higher gene expression of inflammatory markers than controls. Interestingly, no difference was observed in circulating monocytic cells between the two patient subgroups, conservative treatment and burosumab, whereas the inflammatory profile at the end of osteoclastic differentiation was reduced in cells derived from patients receiving burosumab.
The aim of this study is therefore to investigate the inflammatory profile of circulating monocytic cells on the day of burosumab injection (D0) and seven days later (peak effect of anti-FGF23).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with genetically confirmed XLH diagnosis treated with bursosumab | – | Other: Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)Blood sampling at D0 and D7 for monocytic cell extraction in vitro |
Who may qualify
- Ages
- 0 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be recruited from the Calcium and Phosphate Metabolism Reference Centre: * Lyon paediatrics: Femme Mère Enfant hospital (Pr Bacchetta): 20 patients followed * Lyon adult section: Edouard Herriot Hospital (Pr S Lemoine, Nephrologist + Dr Vignot, Rheumatologist): 30 patients followed. 20 patients will be included in the study. The investigators therefore believe that recruitment is fully feasible over 12 months.
Key inclusion criteria (4 listed)
- Children and adults with genetically confirmed XLH followed at the Lyon Reference Centre for Rare Calcium, Phosphorus and Magnesium Diseases
- Patients treated with Burosumab
- Patients >12 kg.
- Patients and parent/guardian who have been informed of the study and who do not object to participate
Key exclusion criteria (6 listed)
- Patients undergoing treatment with oral corticosteroids, or who have received more than 3 months of corticosteroid therapy in the past.
- Patients who have received or are currently receiving immunosuppressive therapy.
- Patients suffering from an inflammatory disease
- Pregnant or breast-feeding women
- Persons deprived of their liberty by judicial or administrative decision
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)Expression of inflammatory markers obtained from circulating monocytic cells of XLH | Other | Patients with genetically confirmed XLH diagnosis treated with bursosumab |
Primary outcome
Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R) obtained from circulating monocytic cells of XLH patients treated with burosumab, before and 7 days after injection.
Time frame: Day 7
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2024.
- Individual participant dataSharing planned: No
Related trials for X-Linked Hypophosphatemic Rickets
RecruitingPhase 1/2
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
X-linked Hypophosphatemia
Active, not recruitingObservational study
X-linked Hypophosphatemia Disease Monitoring Program
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Recruiting
Phosphorus-31 Spectroscopy in Phosphate Diabetes
Phosphate Diabetes, X-linked Hypophosphatemia
RecruitingObservational study
Registry for Patients With X-Linked Hypophosphatemia
X-Linked Hypophosphatemia
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
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. This study is not recruiting at the moment.
Justine Pr BACCHETTA, Pr principal investigator
Hospices Civils de Lyon
Questions about this trial
What is this clinical trial studying?
An observational study of X-Linked Hypophosphatemic Rickets, run by Hospices Civils de Lyon.
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 4 inclusion and 6 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: status not confirmed, as of the sponsor's last update on 6 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Justine Pr BACCHETTA, Pr (+33 4 72 11 93 38, Justine.bacchetta@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R) obtained from circulating monocytic cells of XLH patients treated with burosumab, before and 7 days after injection. (time frame: Day 7). 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 6 Mar 2024.