X-linked Hypophosphatemia (XLH)NCT04049877
Retrospective and Prospective Disease Progression and Quality of Life in XLH
An observational study of X-linked Hypophosphatemia (XLH), run by Medialis Ltd. at 1 site in United Kingdom.
Trial summary
There is limited empirical data documenting disease progression and impact on quality of life for patients with X-linked hypophosphatemia (XLH). This study seeks to investigate the impact of XLH in adults living in the UK retrospectively and prospectively over a 12 month period, using qualitative interviews… Read more about this study
- Who is it for?
- Ages 28 years and older
- Conditions the study is for
- X-linked Hypophosphatemia (XLH)
- What is being tested?
- None - Observational study
- How many people
- 11 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 7 Jul 2019to 28 Jul 2021
- 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 28 years and older
- All sexes
- Adult, Older adult
Study population: Adults with XLH
Who may be able to join
- • Participant has a diagnosis of XLH
- Participant is aged 28 years and above.
- Participant is capable of providing informed consent
- Participant is able to read and converse in English
- Participant is able to comply with the study schedule (5 tele-visits over a 12-month period)
Who cannot join
- • Participant does not have a diagnosis of XLH
- Participant is aged under 28 years
- Participant is not capable of giving informed consent
- Participant is unable to read and converse in English
- Participant is unable to comply the with study schedule (5 tele-visits over a 12-month period)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH)
There is limited empirical data documenting disease progression and impact on quality of life for patients with X-linked hypophosphatemia (XLH). This study seeks to investigate the impact of XLH in adults living in the UK retrospectively and prospectively over a 12 month period, using qualitative interviews, SEIQoL-DW, EQ-5D-5L, SF36 quality of life tools.
XLH is a rare, genetic, chronically debilitating and deforming condition (www.nice.org.uk/guidance/HST8). XLH is characterised by renal phosphate wasting, hypophosphatemia and defective bone mineralisation. The incidence of XLH is reported to be between 1:20,000 and 1:25,000 live births. In the UK, it is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al [Unpublished report]2018). The clinical phenotype of XLH is varied amongst patients, even among affected members of the same family. This can range from no signs or symptoms, slow growth in children, short stature, bone abnormalities that can affect movement and result in pain, bowed legs and knocked knees (where lower legs are positioned at an outward angle), tooth abscesses and excessive dental caries and hearing loss (adult patients only).
This study will recruit 36 adults living with XLH, who are aged 28 years or over and living in the UK. The study will be advertised by the Sponsor and funder Medialis Ltd and via the patient organisation Metabolic Support UK. All study activities will take place via tele-visits and online questionnaires. The study will last approximately 2 years, allowing for one-year recruitment and a further 12 months to conduct all study visits.
- Conditions
- X-linked Hypophosphatemia (XLH)
- Being tested
- None - Observational study
- Medical subject headings
- Familial Hypophosphatemic Rickets
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
None - Observational studyOther
None - Observational study
What is being measured
The primary outcome is the main question the study is designed to answer.
Schedule for the Evaluation of Individual Quality of Life Direct Weight (SEIQoL-DW)
Change in quality of life
Measured: 12 months
Disease progression in adults living with XLH
Qualitative investigation of disease progression
Measured: 12 months
Secondary outcomes (2)
EQ- 5D-5L
Quality of life measure
Measured: 12 months
SF36
Quality of life measure
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Aug 2019
- Study start7 Jul 2019
- Primary completion28 Feb 2021
- Study completion28 Jul 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked Hypophosphatemia (XLH)Studies of the same condition, open and under way.
- 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 only
- Time perspective
- Other
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Medialis Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04049877
- Sponsor's protocol ID
- Med_Asst19
- Status last verified
- Oct 2023
- First submitted
- 7 Aug 2019
- Last updated
- 23 Oct 2023
- Results posted
- No
- Data monitoring committee
- Yes
- 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 23 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH)
- ClinicalTrials.gov ID
- NCT04049877
- Acronym / sponsor ID
- Med_Asst19
- Conditions
- X-linked Hypophosphatemia (XLH)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Medialis Ltd.Industry (pharma, biotech, devices)
- Study start
- 7 Jul 2019 (actual)
- Primary completion
- 28 Feb 2021 (actual)
- Study completion
- 28 Jul 2021 (actual)
- First posted
- 8 Aug 2019 (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.
There is limited empirical data documenting disease progression and impact on quality of life for patients with X-linked hypophosphatemia (XLH). This study seeks to investigate the impact of XLH in adults living in the UK retrospectively and prospectively over a 12 month period, using qualitative interviews, SEIQoL-DW, EQ-5D-5L, SF36 quality of life tools.
XLH is a rare, genetic, chronically debilitating and deforming condition (www.nice.org.uk/guidance/HST8). XLH is characterised by renal phosphate wasting, hypophosphatemia and defective bone mineralisation. The incidence of XLH is reported to be between 1:20,000 and 1:25,000 live births. In the UK, it is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al [Unpublished report]2018). The clinical phenotype of XLH is varied amongst patients, even among affected members of the same family. This can range from no signs or symptoms, slow growth in children, short stature, bone abnormalities that can affect movement and result in pain, bowed legs and knocked knees (where lower legs are positioned at an outward angle), tooth abscesses and excessive dental caries and hearing loss (adult patients only).
This study will recruit 36 adults living with XLH, who are aged 28 years or over and living in the UK. The study will be advertised by the Sponsor and funder Medialis Ltd and via the patient organisation Metabolic Support UK. All study activities will take place via tele-visits and online questionnaires. The study will last approximately 2 years, allowing for one-year recruitment and a further 12 months to conduct all study visits.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Ages
- 28 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Adults with XLH
Key inclusion criteria (5 listed)
- • Participant has a diagnosis of XLH
Key exclusion criteria (5 listed)
- • Participant does not have a diagnosis of XLH
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 |
|---|---|---|
| None - Observational studyNone - Observational study | Other | – |
Primary outcome
Schedule for the Evaluation of Individual Quality of Life Direct Weight (SEIQoL-DW)
Time frame: 12 months
Change in quality of life
Disease progression in adults living with XLH
Time frame: 12 months
Qualitative investigation of disease progression
2 secondary outcomes
EQ- 5D-5L
Time frame: 12 months
SF36
Time frame: 12 months
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 23 Oct 2023.
- This is a link to the publication resulting from this study.Link provided by the sponsor.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
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 X-linked Hypophosphatemia (XLH), run by Medialis Ltd. at 1 site in United Kingdom.
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 5 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 23 Oct 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 United Kingdom. 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?
Schedule for the Evaluation of Individual Quality of Life Direct Weight (SEIQoL-DW) (time frame: 12 months). The study lists 2 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 23 Oct 2023.