A UK Multicentre, Health-Related Quality of Life Study for Children and Adolescents With XLH

NCT04819490 | Completed

• 1 other identifier: 2020-55-UK-CRY
• Study Type: observational
• Target: 32
• Locations: 1 country
• Sites: 6

Brief Summary

This study aims to provide Health-related Quality of Life (HRQoL) data from children and adolescents with growing skeletons in the United Kingdom (UK), including those treated with burosumab or alternative XLH treatment, as part of an updated submission to the SMC in early 2023. This study will utilise data from a subset of UK sites already within the XLH Registry (including participating Scottish sites) and collect additional HRQoL data within these sites (that are otherwise not included in the wider XLH Registry protocol). The HRQoL data will enable the calculation of HRQoL to derive the HRQoL utility estimates in children and adolescents with growing skeletons for the RSS health states, hence addressing an area of uncertainty.

Conditions

X-Linked Hypophosphataemia

Keywords

Crysvita; Burosumab; X-linked Hypophosphataemia (XLH); PHEX Gene Mutation

Outcome Measures

Primary Outcomes (3)

• To derive health state utilities based on Rickets Severity Score (RSS), in the study population

  The RSS is a quantitative method to assess rickets severity in the wrists and knees based on the degree of metaphyseal fraying, concavity, and the proportion of the growth plate affected. It is a 10-point scale, where 10 represents the most extreme degree of rickets severity. In nutritional rickets, RSS may range from 0.5 to 10.

  Changes from baseline, 6 months and 12 months

• To derive health state utilities based on EQ-5D-Y in the study population

  The EQ-5D-Y is a two-part instrument: the EQ-5D descriptive system and the EQ visual analogue scale (VAS). The descriptive system covers five health domains: mobility, looking after myself, doing usual activities, having pain or discomfort and feeling worried, sad or unhappy. Each domain has 3 response categories: no problems, some problems and a lot of problems. The response categories can be reflected by a 1-digit number (1-3) and combined for the five dimensions into a 5-digit number to describe the health state of the patient. The EQ VAS records the patient's self-rated health on a vertical VAS of 0-100 where 100="The best health you can imagine" and 0="The worst health you can imagine". The VAS can be used as a quantitative measure of health outcome that reflects the patient's own judgement; results can be presented as both a measure of the central tendency and a measure of dispersion.

  Changes from baseline, 6 months and 12 months

• To derive health state utilities based on Child Health Utility 9 Dimensions [CHU-9D], in the study population

  CHU-9D is a generic child HRQoL questionnaire consisting of nine items, each with five response categories. Each item covers a different domain: worry, sadness, pain, tiredness, annoyance, school, sleep, daily routine and activities.

  Changes from baseline, 6 months and 12 months

Eligibility Criteria

• Age: 4 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study will aim to enrol approximately 50 patients from at least 5 UK centres (currently participating in the XLH Registry). Subjects will be receiving any XLH treatment (burosumab, oral phosphate and active vitamin D or another XLH treatment) within 30 days or prior to informed consent.

You may qualify if:

• Aged ≥4 years and \<18 years.
• Enrolled in the XLH Registry via one of the participating UK centres.
• Have at least one of the following:
• RSS calculated at enrolment during a routine clinic visit. OR
• Historical radiographs of the affected wrist and/or knee available in the medical chart within the 6 months prior to enrolment, to allow RSS to be centrally calculated retrospectively.
• Receiving any XLH treatment (burosumab, oral phosphate and active vitamin D, or other XLH treatment) within 30 days prior to informed consent for this study

You may not qualify if:

• Does not have the cognitive capacity to provide informed consent, or their legally designated representative (i.e. parent / legal guardian) does not have the cognitive capacity to provide informed consent.
• Is not expected to have open growth plates for the duration of the study.
• Currently participating in an interventional clinical trial. Participation in a Compassionate Use Programme, Pre-commercial Programme, or Investigator Initiated Study does not preclude a patient from participation in this study.

Sponsors & Collaborators

• Kyowa Kirin Pharmaceutical Development Ltd: lead

Study Sites (6)

Royal Hospital for Sick Children

Edinburgh, EH9 1LF, United Kingdom

Location

NHS Greater Glasgow & Clyde- South Glasgow University Hosp Division

Glasgow, G12 0XH, United Kingdom

Location

Leeds Teaching Hospitals NHS Trust, Trust Headquarters, St. James's University Hospital

Leeds, LS9 7TF, United Kingdom

Location

Evelina Childrens Hospital

London, SE1 7EH, United Kingdom

Location

Royal Manchester Children's Hospital

Manchester, M13 9WL, United Kingdom

Location

Sheffield Childrens Hospital

Sheffield, S10 2RX, United Kingdom

Location

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 Officials

• Kyowa Kirin Medical Affairs Division

  Kyowa Kirin, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 6 Months
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 18, 2021
• First Posted: March 29, 2021
• Study Start: April 1, 2021
• Primary Completion: July 29, 2022
• Study Completion: July 29, 2022
• Last Updated: July 25, 2024

Record last verified: 2024-07

Locations

GB (6)