Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder DOI Creative Commons
Mousumi Bose,

Tahra C. Anglade,

Chelsea I. Donlon

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 11, 2024

Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeutics for RCDP warrant the development of clinical outcome assessments to assess efficacy treatment well-being patients. Our study aimed develop valid quality-of-life (QOL) caregiver-reported survey instrument, RhizoQOL, be used an endpoint in trials. Methods Development RhizoQOL tool included three caregiver focus groups elicit concepts serve potential domains QOL instrument RCDP, pilot initial testing, cognitive interviewing revised drafts determine content validity, well three-month longitudinal reliability internal consistency instrument. Results Twenty-eight caregivers participated groups, reporting that could appropriate include psychosocial behavior, feeding symptoms, mobility seizures related activity, impact treatment. Following testing (n = 22) stakeholder feedback, was administered five interviewing. This resulted with 31 question items, six domains, 1–5 Likert scale item response assessing frequency or severity event item. Longitudinal 18) found average score 1.98 ± 0.97 all Cronbach’s alpha value 0.856, suggesting strong intra-survey reliability. Using individual results from linear regression modeling, required magnitude significant effects, eight items were removed resulting total 23 within 6 discrete domains. Conclusions The final consisting questions, assesses experiences patients observed serves novel assessment therapeutic trials impacts effectiveness treatments.

Language: Английский

Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder DOI Creative Commons
Mousumi Bose,

Tahra C. Anglade,

Chelsea I. Donlon

et al.

Orphanet Journal of Rare Diseases, Journal Year: 2025, Volume and Issue: 20(1)

Published: March 31, 2025

Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeutics for RCDP warrant the development of clinical outcome assessments to assess efficacy treatment well-being patients. Our study aimed develop valid quality-of-life (QOL) caregiver-reported survey instrument, RhizoQOL, be used supportive endpoint in trials. Methods Development RhizoQOL tool included three caregiver focus groups elicit concepts serve potential domains QOL instrument RCDP, pilot initial testing, cognitive interviewing revised drafts determine content validity, well three-month longitudinal reliability internal consistency instrument. Results Twenty-eight caregivers participated groups, reporting that could appropriate include psychosocial behavior, feeding symptoms, mobility seizures related activity, impact treatment. Following testing ( n = 22) stakeholder feedback, was administered five interviewing. This resulted with 31 question items, six domains, 1–5 Likert scale item response assessing frequency or severity event item. Longitudinal 18) found average score 1.98 ± 0.97 all Cronbach’s alpha value 0.856, suggesting strong intra-survey reliability. Using individual results from linear regression modeling, required magnitude significant effects, eight items were removed resulting total 23 within 6 discrete domains. Conclusions The final consisting questions, assesses experiences patients observed serves novel assessment therapeutic trials impacts support overall effectiveness treatments.

Language: Английский

Citations

0
Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder DOI Creative Commons
Mousumi Bose,

Tahra C. Anglade,

Chelsea I. Donlon

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 11, 2024

Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disorder characterized by symptoms such as respiratory dysfunction, seizures, orthopedic issues, and neurodevelopmental delay. Potential therapeutics for RCDP warrant the development of clinical outcome assessments to assess efficacy treatment well-being patients. Our study aimed develop valid quality-of-life (QOL) caregiver-reported survey instrument, RhizoQOL, be used an endpoint in trials. Methods Development RhizoQOL tool included three caregiver focus groups elicit concepts serve potential domains QOL instrument RCDP, pilot initial testing, cognitive interviewing revised drafts determine content validity, well three-month longitudinal reliability internal consistency instrument. Results Twenty-eight caregivers participated groups, reporting that could appropriate include psychosocial behavior, feeding symptoms, mobility seizures related activity, impact treatment. Following testing (n = 22) stakeholder feedback, was administered five interviewing. This resulted with 31 question items, six domains, 1–5 Likert scale item response assessing frequency or severity event item. Longitudinal 18) found average score 1.98 ± 0.97 all Cronbach’s alpha value 0.856, suggesting strong intra-survey reliability. Using individual results from linear regression modeling, required magnitude significant effects, eight items were removed resulting total 23 within 6 discrete domains. Conclusions The final consisting questions, assesses experiences patients observed serves novel assessment therapeutic trials impacts effectiveness treatments.

Language: Английский

Citations

0