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Retrospective and Prospective Disease Progression and Quality of Life in XLH

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT04049877
Recruitment Status : Completed
First Posted : August 8, 2019
Last Update Posted : October 23, 2023
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 ( 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it is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al [Unpublished report]2018).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
Actual Enrollment : 11 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
Actual Primary Completion Date : February 28, 2021
Actual Study Completion Date : July 28, 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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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

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 identifier (NCT number): NCT04049877

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United Kingdom
Oxford, United Kingdom, OX16 0AH
Sponsors and Collaborators
Medialis Ltd.
Additional Information:
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Responsible Party: Medialis Ltd. Identifier: NCT04049877    
Other Study ID Numbers: Med_Asst19
First Posted: August 8, 2019    Key Record Dates
Last Update Posted: October 23, 2023
Last Verified: October 2023
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
Disease Progression
Disease Attributes
Pathologic Processes
Phosphorus Metabolism Disorders
Metabolic Diseases
Rickets, Hypophosphatemic
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Hypophosphatemia, Familial
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Female Urogenital Diseases
Female Urogenital Diseases and Pregnancy Complications
Urogenital Diseases
Male Urogenital Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Calcium Metabolism Disorders
Vitamin D Deficiency
Deficiency Diseases
Nutrition Disorders