Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism

NCT04248062 | Completed

• 1 other identifier: 10650
• Study Type: observational
• Target: 69
• Locations: 1 country
• Sites: 1

Brief Summary

lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting in a limited body of evidence. Limited evidence results in weak recommendations which are perceived as unbinding and thus sustains heterogeneous study designs, choice of outcomes and interventions again producing non-uniform data. The goal of the current study is to identify and select reliable instruments, that measure patients' and their parents' perception about relevant (social, emotional, cognitive and physical) aspects in their lives. This set of instruments will secure the comparability of future research findings. Furthermore this instruments will improve the screening of paediatric IEM patients regarding their need for additional (psychosocial or consultative) support in daily hospital routine.

Conditions

Inborn Errors of Metabolism; Urea Cycle Disorder; Maple Syrup Urine Disease; Phenylketonurias; Methylmalonicacidemia; OTC Deficiency; Aminoacidopathy; Patient Reported Outcome Measurements

Outcome Measures

Primary Outcomes (2)

• Average importance of patient reported outcomes (PRO) after first Delphi survey

  Average importance-rating of the PROs in the total sample (experts, patients, parents, patient representatives); 9-point Likert scale (1 = not at all important, 2 = very important); Sum-Score for each PRO divided by number of survey-participants; Consensus about the importance of a PRO achieved if at least 70% of the voting participants from each stakeholder group scored between 7 and 9

  15 minutes (for Delphi survey 1)

• Average importance of patient reported outcomes (PRO) after second Delphi survey

  Average importance-rating of the PROs in the total sample (experts, patients, parents, patient representatives); 9-point Likert scale (1 = not at all important, 2 = very important); Sum-Score for each PRO divided by number of survey-participants; Consensus about the importance of a PRO achieved if at least 70% of the voting participants from each stakeholder group scored between 7 and 9

  15 minutes (for Delphi survey 2)

Study Arms (3)

IEM experts

Heterogeneous group of health professionals (physicians, psychologists, nutritionists) working in the field of Inborn Errors of Metabolism (IEM)

Other: Survey

Paediatric IEM patients

IEM patients between 10 and 18 years

Other: Survey

Parents of paediatric IEM patients and patient representatives

* Parents of IEM patients (between 0 and 18 years) * Patient representatives

Other: Survey

Interventions

Survey OTHER

Survey: 38 preselected patient and parent reported outcomes; rating scale: 9 point likert scale (1=not at all important - 9=very important)

IEM experts; Paediatric IEM patients; Parents of paediatric IEM patients and patient representatives

Eligibility Criteria

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

Study Population

The included groups (experts, patients, parents/patient representatives) were all not randomly chosen. Experts are recruited based on the criteria of profession, specialization, experience and location. A sample as balanced as possible is intended. Patients and their parents are recruited based on IEM disease, disease severity, age and gender. A sample as balanced as possible is intended.

You may qualify if:

• Suffering from rare IEM (e.g. phenylketonuria, urea cycle disorders, maple syrup urine disease, methylmalonic acidemia)
• Ability to understand German language
• Cognitive ability to complete the basic survey items
• Ability to understand German language
• Parents of a child suffering from IEM
• More than 1 year of practical experience in the field of IEM
• Ability to understand written English

You may not qualify if:

• Older than 18 years
• Severe cognitive impairment (ability to complete the Survey not existent)
• No ability to understand German language
• Less than 1 year of practical experience in the field of IEM
• No ability to understand written English

Sponsors & Collaborators

• University Children's Hospital, Zurich: lead

Study Sites (1)

University Children's Hospital Zurich

Zurich, 8032, Switzerland

Location

Related Publications (4)

• Slade A, Isa F, Kyte D, Pankhurst T, Kerecuk L, Ferguson J, Lipkin G, Calvert M. Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018 Apr 23;13(1):61. doi: 10.1186/s13023-018-0810-x.

  PMID: 29688860 BACKGROUND

• Morel T, Cano SJ. Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet J Rare Dis. 2017 Nov 2;12(1):171. doi: 10.1186/s13023-017-0718-x.

  PMID: 29096663 BACKGROUND

• Zeltner NA, Landolt MA, Baumgartner MR, Lageder S, Quitmann J, Sommer R, Karall D, Muhlhausen C, Schlune A, Scholl-Burgi S, Huemer M. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents. JIMD Rep. 2017;31:1-9. doi: 10.1007/8904_2016_545. Epub 2016 Aug 13.

  PMID: 26983835 BACKGROUND

• Weldring T, Smith SM. Patient-Reported Outcomes (PROs) and Patient-Reported Outcome Measures (PROMs). Health Serv Insights. 2013 Aug 4;6:61-8. doi: 10.4137/HSI.S11093. eCollection 2013.

  PMID: 25114561 BACKGROUND

MeSH Terms

Conditions

Metabolism, Inborn Errors; Urea Cycle Disorders, Inborn; Maple Syrup Urine Disease; Phenylketonurias; Methylmalonic acidemia; Ornithine Carbamoyltransferase Deficiency Disease; Amino Acid Metabolism, Inborn Errors

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, X-Linked

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Martina Huemer

  University Children's Hospital, Zurich

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 7, 2019
• First Posted: January 30, 2020
• Study Start: August 1, 2019
• Primary Completion: August 29, 2020
• Study Completion: October 16, 2020
• Last Updated: November 4, 2020

Record last verified: 2020-11

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)