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Retrospective and Prospective Disease Progression and Quality of Life in XLH

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ClinicalTrials.gov Identifier: NCT04049877
Recruitment Status : Recruiting
First Posted : August 8, 2019
Last Update Posted : August 8, 2019
Sponsor:
Collaborator:
Metabolic Support UK
Information provided by (Responsible Party):
Medialis Ltd.

Brief 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, 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it is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al [Unpublished report]2018).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.


Condition or disease Intervention/treatment
X-linked Hypophosphatemia (XLH) Other: None - Observational study

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Study Type : Observational
Estimated Enrollment : 36 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH)
Actual Study Start Date : July 7, 2019
Estimated Primary Completion Date : July 2020
Estimated Study Completion Date : July 2021



Intervention Details:
  • Other: None - Observational study
    None - Observational study


Primary Outcome Measures :
  1. Schedule for the Evaluation of Individual Quality of Life Direct Weight (SEIQoL-DW) [ Time Frame: 12 months ]
    Change in quality of life

  2. Disease progression in adults living with XLH [ Time Frame: 12 months ]
    Qualitative investigation of disease progression


Secondary Outcome Measures :
  1. EQ- 5D-5L [ Time Frame: 12 months ]
    Quality of life measure

  2. SF36 [ Time Frame: 12 months ]
    Quality of life measure



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Ages Eligible for Study:   28 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Adults with XLH
Criteria

Inclusion Criteria:

  • • 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)

Exclusion Criteria:

  • • 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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04049877


Locations
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United Kingdom
Medialis Recruiting
Oxford, United Kingdom, OX16 0AH
Contact: Ravi Jandhyala    44(0)1744865    ravi@medialis.co.uk   
Sponsors and Collaborators
Medialis Ltd.
Metabolic Support UK

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Responsible Party: Medialis Ltd.
ClinicalTrials.gov Identifier: NCT04049877     History of Changes
Other Study ID Numbers: Med_Asst19
First Posted: August 8, 2019    Key Record Dates
Last Update Posted: August 8, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Familial Hypophosphatemic Rickets
Hypophosphatemia
Disease Progression
Disease Attributes
Pathologic Processes
Phosphorus Metabolism Disorders
Metabolic Diseases
Rickets, Hypophosphatemic
Rickets
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Hypophosphatemia, Familial
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Calcium Metabolism Disorders
Vitamin D Deficiency
Avitaminosis
Deficiency Diseases
Malnutrition
Nutrition Disorders