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Completed

NCT Number: NCT04049877

Retrospective and Prospective Disease Progression and Quality of Life in 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it is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al [Unpublished report]2018).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.

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Key information

Conditions

X-linked Hypophosphatemia (XLH) Avitaminosis Bone Diseases Bone Diseases, Metabolic Calcium Metabolism Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Deficiency Diseases Familial Hypophosphatemic Rickets Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hypophosphatemia Hypophosphatemia, Familial Kidney Diseases Male Urogenital Diseases Malnutrition Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Musculoskeletal Diseases Nutrition Disorders Nutritional and Metabolic Diseases Phosphorus Metabolism Disorders Renal Tubular Transport, Inborn Errors Rickets Rickets, Hypophosphatemic Urogenital Diseases Urologic Diseases Vitamin D Deficiency

Age range

28 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medialis

Oxford, OX16 0AH, United Kingdom

Who can participate

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

None - observational study

Other

None - Observational study

Primary outcomes

  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 outcomes

  1. EQ- 5D-5L

    Time frame: 12 months

    Quality of life measure

  2. SF36

    Time frame: 12 months

    Quality of life measure

Sponsors and collaborators

Lead sponsor

Medialis Ltd.

Industry

Registry information

Official study title

Retrospective and Prospective Disease Progression and Quality of Life in X-linked Hypophosphatemia (XLH)

Important dates

Study start
2019
Primary completion
2021
Study completion
2021
First posted
Aug 8, 2019
Registry last updated
Oct 23, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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