Ignite Creation Date:
2024-10-26 @ 3:38 PM
Last Modification Date:
2024-10-26 @ 3:38 PM
Study NCT ID:
NCT06561503
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-08-12
Brief Title:
Evaluation of Health Related Quality of Life in Patients With Intoxication-type Inherited Metabolic Diseases in Sohag University Hospital
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Evaluation of Health Related Quality of Life in Patients With Intoxication-type Inherited Metabolic Diseases in Sohag University Hospital
Status:
RECRUITING
Status Verified Date:
2024-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Intoxication-type Inherited Metabolic disease IT-IMD are a group of rare chronic diseases They share the pattern of intoxication by a substance which accumulates due to a genetically determined enzyme failure In many IT-IMD brain toxicity is predominant Treatment mostly encompasses a lifelong natural protein-restricted diet supplementation of amino acid solutions and specific medication1 The diseases are by definition chronic but according to their characteristics they can be subdivided into having or having not acute crisis-like episodes Patients with ITIMD such as urea cycle disorders UCD or organic acidurias OA may be challenged by life-threatening metabolic crises and acute exacerbations acute IT-IMD Many acute IT-IMD patients develop neurocognitive and behavioural problems often despite sufficient treatment adherence Furthermore difficulties to adhere to diet and medication nausea and vomiting are major every-day complaints2 Phenylketonuria PKU an inborn error of phenylalanine Phe metabolism is a non-acute IT-IMD patients generally have no metabolic crises or short-term disease exacerbations Accumulating Phe is toxic to the brain and causes severe irreversible cognitive impairment Mainstay of treatment in classical PKU is a lifelong protein-restricted diet complemented with amino acid supplementation3With good metabolic control classical PKU patients usually achieve normal cognitive functioning but complaints such as attention problems anxiety or depression occur frequently2 Acute and non-acute IT-IMD patients face considerable burdens of disease and treatment which may impair health-related quality of life HrQoL HrQoL is a patients perception of the impact of disease and treatment on functioning in a variety of dimensions including physical psychological and social domains14 Research on the subjective burden of IT-IMD remains sparse Previous research suggests that pediatric patients and their parents everyday life is significantly affected by the considerable disease and treatment burdens of E-IMD5 Studies with appropriate sample sizes are needed to make valid statements about health-related quality of life HrQoL in children and adolescents with IT-IMD
Detailed Description:
Type of the study
Prospective observational study
Place of the study
Metabolic and Genetic Unit Department of Pediatrics Faculty of Medicine Sohag University Sohag Egypt
Inclusion Criteria
Confirmed diagnosis of PKUchronic and acute crisis gluatric acidemia methylmalonic acidemia Isovaleric academia and Propionic academia
Patients and their parents agree to participate in the study Exclusion Criteria
Patients and their parents refuse to participate in the study
Children with incomplete medical records or unavailable clinical data
Non diagnosed cases
Study duration
One year starting from obtaining approval from the research ethics committee
Patients
Our study will include all children diagnosed with IT-IMD at the Metabolic and Genetic Unit of Sohag University
Prospective observational study
Place of the study
Metabolic and Genetic Unit Department of Pediatrics Faculty of Medicine Sohag University Sohag Egypt
Inclusion Criteria
Confirmed diagnosis of PKUchronic and acute crisis gluatric acidemia methylmalonic acidemia Isovaleric academia and Propionic academia
Patients and their parents agree to participate in the study Exclusion Criteria
Patients and their parents refuse to participate in the study
Children with incomplete medical records or unavailable clinical data
Non diagnosed cases
Study duration
One year starting from obtaining approval from the research ethics committee
Patients
Our study will include all children diagnosed with IT-IMD at the Metabolic and Genetic Unit of Sohag University
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None