Phenylketonurias Clinical Trial
— MetaPROMOfficial title:
Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
NCT number | NCT04248062 |
Other study ID # | 10650 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | August 1, 2019 |
Est. completion date | October 16, 2020 |
Verified date | November 2020 |
Source | University Children's Hospital, Zurich |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 69 |
Est. completion date | October 16, 2020 |
Est. primary completion date | August 29, 2020 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A to 18 Years |
Eligibility | *Statements above refer to IEM patients included in the study Inclusion Criteria (patients): - 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 Inclusion Criteria (parents): - Ability to understand German language - Parents of a child suffering from IEM Inclusion Criteria (experts): - More than 1 year of practical experience in the field of IEM - Ability to understand written English Exclusion Criteria (patients): - Older than 18 years - Severe cognitive impairment (ability to complete the Survey not existent) Inclusion Criteria (parents): - No ability to understand German language Exclusion Criteria (experts): - Less than 1 year of practical experience in the field of IEM - No ability to understand written English |
Country | Name | City | State |
---|---|---|---|
Switzerland | University Children's Hospital Zurich | Zurich |
Lead Sponsor | Collaborator |
---|---|
University Children's Hospital, Zurich |
Switzerland,
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. Review. — View Citation
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. Review. — View Citation
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. — View Citation
Zeltner NA, Landolt MA, Baumgartner MR, Lageder S, Quitmann J, Sommer R, Karall D, Mühlhausen C, Schlune A, Scholl-Bürgi 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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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) | |
Primary | 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) |
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT05998109 -
PheCheck Feasibility Study
|
||
Not yet recruiting |
NCT04433728 -
Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.
|
||
Completed |
NCT01209819 -
Bone Mineral Density in Adults With Hyperphenylalaninemia
|
N/A | |
Active, not recruiting |
NCT05174559 -
Additional Dietary Large Neutral Amino Acids (LNAA) for Improved Symptoms in Adult Classical Phenylktonuria (PKU)
|
N/A | |
Not yet recruiting |
NCT04969809 -
Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients
|
N/A | |
Recruiting |
NCT04404530 -
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
|
||
Recruiting |
NCT05827536 -
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.
|
N/A | |
Active, not recruiting |
NCT05971563 -
Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers
|
N/A | |
Enrolling by invitation |
NCT03655223 -
Early Check: Expanded Screening in Newborns
|
||
Completed |
NCT04368624 -
PKU Skin Stripping
|
||
Completed |
NCT04452513 -
A Prospective Clinical Study of Phenylketonuria (PKU)
|
||
Completed |
NCT05497050 -
The Effect of Nursing Empowerment Program
|
N/A | |
Completed |
NCT04943393 -
Remote Neurocognitive and Psychological Assessment in PKU
|
||
Completed |
NCT05096988 -
Evaluation of PKU Sphere Liquid
|
N/A | |
Not yet recruiting |
NCT06332807 -
AAV Gene Therapy Clinical Study in Adult Classic PKU
|
Phase 1/Phase 2 | |
Completed |
NCT00225615 -
A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels
|
Phase 3 | |
Recruiting |
NCT05128149 -
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
|
||
Terminated |
NCT05229549 -
Study to Evaluate the Effect on Nitrogen Retention of Two Different Posology Schemes of PKU GOLIKE PLUS 3-16 and Free AAs in Patients With Phenylketonuria
|
N/A | |
Enrolling by invitation |
NCT05356377 -
Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU
|
||
Not yet recruiting |
NCT06337864 -
Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria
|
N/A |