Retrospective and Prospective Disease Progression and Quality of Life in XLH

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is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al [Unpublished report]2018).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

Study Overview

• Status: Completed
• Conditions: X-linked Hypophosphatemia (XLH)
• Intervention / Treatment: Other: None - Observational study

• Study Type: Observational
• Enrollment (Actual): 11

Contacts and Locations

Study Locations

• United Kingdom
  • Oxford, United Kingdom, OX16 0AH
    • Medialis

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 24 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Adults with XLH

Description

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)

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Schedule for the Evaluation of Individual Quality of Life Direct Weight (SEIQoL-DW)	Change in quality of life	12 months
Disease progression in adults living with XLH	Qualitative investigation of disease progression	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
EQ- 5D-5L	Quality of life measure	12 months
SF36	Quality of life measure	12 months

Collaborators and Investigators

• Sponsor: Medialis Ltd.
• Collaborators: Metabolic Support UK

Publications and helpful links

Helpful Links

• This is a link to the publication resulting from this study.

Study record dates

Study Major Dates

• Study Start (Actual): July 7, 2019
• Primary Completion (Actual): February 28, 2021
• Study Completion (Actual): July 28, 2021

Study Registration Dates

• First Submitted: August 7, 2019
• First Submitted That Met QC Criteria: August 7, 2019
• First Posted (Actual): August 8, 2019

Study Record Updates

• Last Update Posted (Actual): October 23, 2023
• Last Update Submitted That Met QC Criteria: October 19, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Kidney Diseases; Urologic Diseases; Disease Attributes; Nutrition Disorders; Genetic Diseases, Inborn; Musculoskeletal Diseases; Avitaminosis; Deficiency Diseases; Malnutrition; Bone Diseases; Metabolism, Inborn Errors; Bone Diseases, Metabolic; Renal Tubular Transport, Inborn Errors; Calcium Metabolism Disorders; Metal Metabolism, Inborn Errors; Phosphorus Metabolism Disorders; Rickets; Vitamin D Deficiency; Rickets, Hypophosphatemic; Hypophosphatemia, Familial; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Disease Progression; Familial Hypophosphatemic Rickets; Hypophosphatemia
• Other Study ID Numbers: Med_Asst19

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No