Retrospective and Prospective Disease Progression and Quality of Life in XLH

NCT04049877 | Completed DMC

• 1 other identifier: Med_Asst19
• Study Type: observational
• Target: 11
• Locations: 1 country
• Sites: 1

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is estimated that there are around 250 paediatric XLH patients and around 2,500 adult XLH patients (Delmestri,et al \[Unpublished report\]2018).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

Conditions

X-linked Hypophosphatemia (XLH)

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (2)

• EQ- 5D-5L

  12 months

• SF36

  12 months

Interventions

None - Observational study OTHER

None - Observational study

Eligibility Criteria

• Age: 28 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults with XLH

You may qualify if:

• 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)

You may not qualify if:

• 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)

Sponsors & Collaborators

• Medialis Ltd.: lead

Study Sites (1)

Medialis

Oxford, OX16 0AH, United Kingdom

Location

Related Links

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

MeSH Terms

Conditions

Familial Hypophosphatemic Rickets

Condition Hierarchy (Ancestors)

Rickets, Hypophosphatemic; Rickets; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Calcium Metabolism Disorders; Hypophosphatemia; Phosphorus Metabolism Disorders; Vitamin D Deficiency; Avitaminosis; Deficiency Diseases; Malnutrition; Nutrition Disorders

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 7, 2019
• First Posted: August 8, 2019
• Study Start: July 7, 2019
• Primary Completion: February 28, 2021
• Study Completion: July 28, 2021
• Last Updated: October 23, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)