Pseudoxanthoma ElasticumNCT05025722
Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
An observational study of Pseudoxanthoma Elasticum, run by Daiichi Sankyo at 1 site in United States.
Trial summary
This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological siblings who are PXE carriers or normal non-PXE individuals. Read more about this study
- Who is it for?
- Ages 18 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Pseudoxanthoma Elasticum
- What is being tested?
- Non Interventional
- How many people
- 48 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Aug 2021to 11 Aug 2022
- 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 18 to 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: PXE probands with identified ABCC6 mutations and non-PXE biological siblings will be invited for study participation.
Who may be able to join
- Male or female participants aged 18 to 75 years
- Participants (approximately 1 carrier and 1 normal to match proband)
- Confirmed PXE participants: index PXE/proband with established PXE and ABCC6 mutations identified
- PXE carrier participants: biological sibling of the PXE index case and confirmed as PXE carrier
- Non-PXE normal participants: biological sibling of PXE index case and confirmed as non-PXE normal
Who cannot join
- Unconfirmed ABCC6 mutation status
- Use of bisphosphonate in the preceding 12 months and during the study
- Use of Vitamin B6 and/or Vitamin D supplement in the preceding 1 month and during the study (if the total Vitamin B6 supplementation is >5 mg/day)
- Recent initiation or dose change of Vitamin D and/or multivitamin supplement in the preceding 1 month and during the study
- Bone fracture within 3 months prior to Screening or active bone disease (excluding osteopenia or osteoporosis)
- History of hyperparathyroidism
Show all 10Show fewer
- History of moderate to severe renal impairment
- History of hypophosphatasia
- Known history of uncorrected abnormality in calcium (Ca), phosphate, alkaline phosphatase (ALP) or parathyroid hormone
- Other significant condition (medical, psychiatric, social, or medication) that, in the judgment of the Investigator, would prevent full participation or would be inappropriate for the study
Trial locations and contacts
1 site in 1 country.
United States1 site
Thomas Jefferson University
Philadelphia, Pennsylvania, 19107
About this study
Official title: An Evaluation of Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological siblings who are PXE carriers or normal non-PXE individuals.
Read the detailed description
This non-interventional PXE study is designed to assess differences in circulation levels of selective biomarkers related to PXE and tissue-nonspecific alkaline phosphatase (TNAP) inhibition, between PXE patients, PXE carriers, and non-PXE normal individuals.
- Conditions
- Pseudoxanthoma Elasticum
- Being tested
- Non Interventional
- Keywords
- Pseudoxanthoma Elasticum, Bone turnover biomarkers, Tissue mineralization biomarkers
- Medical subject headings
- Pseudoxanthoma Elasticum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non InterventionalOther
This is an observational study.
| Study group | Role | What they receive |
|---|---|---|
| Confirmed PXE participants | Participants who have index PXE/proband with established PXE and ABCC6 mutations identified. Receives: Other: Non Interventional | |
| PXE carrier participants | Participants who are biological siblings of the PXE index case and confirmed as PXE carrier. Receives: Other: Non Interventional | |
| Non-PXE normal participants | Participants who are biological siblings of PXE index case and confirmed as non-PXE normal. Receives: Other: Non Interventional |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mean Plasma Levels of Inorganic Pyrophosphate (PPi)
PPi will be assessed by study group and by timepoint where applicable.
Measured: Study visit (0 up to 2 hours)
Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
PLP will be assessed by study group and by timepoint where applicable.
Measured: Study visit (0 up to 2 hours)
Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP)
ALP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Measured: Study visit (0 up to 2 hours)
Mean Serum Enzyme Activity Levels of Bone-specific Alkaline Phosphatase (BSAP)
BSAP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Measured: Study visit (0 hours)
Secondary outcomes (4)
Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex
Blood samples will be assessed by sex group.
Measured: Study visit (0 to 2 hours)
Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex
Blood samples will be assessed by sex group.
Measured: Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP
Variability of PPi and PLP will be assessed.
Measured: Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP
Variability of ALP will be assessed.
Measured: Study visit (0 to 2 hours)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Aug 2021
- Study start30 Aug 2021
- Primary completion11 Aug 2022
- Study completion11 Aug 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- More trials run by Daiichi SankyoThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- Daiichi Sankyo
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- PXE International, Thomas Jefferson University
- Responsible party
- Sponsor
- Investigators
- Global Clinical Leader, Study director, Daiichi Sankyo
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05025722
- Sponsor's protocol ID
- DS1211-A-U104
- Status last verified
- Sep 2022
- First submitted
- 30 Jul 2021
- Last updated
- 6 Sep 2022
- 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 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Evaluation of Pseudoxanthoma Elasticum (PXE) Natural History Biomarkers in PXE Individuals and Their Biological Non-PXE Siblings
- ClinicalTrials.gov ID
- NCT05025722
- Acronym / sponsor ID
- DS1211-A-U104
- Conditions
- Pseudoxanthoma Elasticum
- Keywords
- Pseudoxanthoma Elasticum, Bone turnover biomarkers, Tissue mineralization biomarkers
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- Daiichi SankyoIndustry (pharma, biotech, devices)
- Collaborators
- PXE International, Thomas Jefferson University
- Study start
- 30 Aug 2021 (actual)
- Primary completion
- 11 Aug 2022 (actual)
- Study completion
- 11 Aug 2022 (actual)
- First posted
- 27 Aug 2021 (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.
This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological siblings who are PXE carriers or normal non-PXE individuals.
Detailed description
This non-interventional PXE study is designed to assess differences in circulation levels of selective biomarkers related to PXE and tissue-nonspecific alkaline phosphatase (TNAP) inhibition, between PXE patients, PXE carriers, and non-PXE normal individuals.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Confirmed PXE participants | – | Other: Non InterventionalParticipants who have index PXE/proband with established PXE and ABCC6 mutations identified. |
| PXE carrier participants | – | Other: Non InterventionalParticipants who are biological siblings of the PXE index case and confirmed as PXE carrier. |
| Non-PXE normal participants | – | Other: Non InterventionalParticipants who are biological siblings of PXE index case and confirmed as non-PXE normal. |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- PXE probands with identified ABCC6 mutations and non-PXE biological siblings will be invited for study participation.
Key inclusion criteria (5 listed)
- Male or female participants aged 18 to 75 years
- Participants (approximately 1 carrier and 1 normal to match proband)
Key exclusion criteria (10 listed)
- Unconfirmed ABCC6 mutation status
- Use of bisphosphonate in the preceding 12 months and during the study
- Use of Vitamin B6 and/or Vitamin D supplement in the preceding 1 month and during the study (if the total Vitamin B6 supplementation is >5 mg/day)
- Recent initiation or dose change of Vitamin D and/or multivitamin supplement in the preceding 1 month and during the study
- Bone fracture within 3 months prior to Screening or active bone disease (excluding osteopenia or osteoporosis)
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 |
|---|---|---|
| Non InterventionalThis is an observational study. | Other | Confirmed PXE participants, Non-PXE normal participants, PXE carrier participants |
Primary outcome
Mean Plasma Levels of Inorganic Pyrophosphate (PPi)
Time frame: Study visit (0 up to 2 hours)
PPi will be assessed by study group and by timepoint where applicable.
Mean Plasma Levels of Pyridoxal 5´-Phosphate (PLP)
Time frame: Study visit (0 up to 2 hours)
PLP will be assessed by study group and by timepoint where applicable.
Mean Serum Enzyme Activity Levels of Alkaline Phosphatase (ALP)
Time frame: Study visit (0 up to 2 hours)
ALP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
Mean Serum Enzyme Activity Levels of Bone-specific Alkaline Phosphatase (BSAP)
Time frame: Study visit (0 hours)
BSAP will be measured using the standard clinical chemistry assays, by study group and by timepoint where applicable.
4 secondary outcomes
Percent Change from Baseline in Plasma Levels of PPi and PLP, by Sex
Time frame: Study visit (0 to 2 hours)
Percent Change from Baseline in Serum Enzyme Activity of ALP, by Sex
Time frame: Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Plasma Levels of PPi and PLP
Time frame: Study visit (0 to 2 hours)
Percent Change from Baseline and Variability in Serum Enzyme Activity of ALP
Time frame: Study visit (0 to 2 hours)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Sep 2022.
- Individual participant dataSharing planned: No
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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.
Global Clinical Leader study director
Daiichi Sankyo
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 Pseudoxanthoma Elasticum, run by Daiichi Sankyo at 1 site in United States.
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 5 inclusion and 10 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: finished, as of the sponsor's last update on 6 Sep 2022. 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 United States. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mean Plasma Levels of Inorganic Pyrophosphate (PPi) (time frame: Study visit (0 up to 2 hours)). The study lists 4 primary outcomes in all. 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 Sep 2022.