Evaluation of Health Related Quality of Life in Patients With Intoxication-type Inherited Metabolic Diseases in Sohag University Hospital

August 19, 2024 updated by: Alaa Mahmoud Aly, Sohag University
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 medication.(1) 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 complaints.(2) 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 supplementation.(3)With good metabolic control, classical PKU patients usually achieve normal cognitive functioning, but complaints such as attention problems, anxiety, or depression occur frequently.(2) 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 patient's perception of the impact of disease and treatment on functioning in a variety of dimensions, including physical, psychological, and social domains.(1,4) 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-IMD.(5) 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

Study Overview

Status

Recruiting

Conditions

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 PKU(chronic 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 Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Abdelrahim Abdrabou Sadek, professor
  • Phone Number: 01065067057

Study Locations

  • Egypt
      • Sohag, Egypt, Sohag
        • Recruiting
        • Sohag University Hospital
        • Contact:
          • Magdy M Amin, professor

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

- • Confirmed diagnosis of PKU(chronic and acute crisis(, gluatric acidemia, methylmalonic acidemia, Isovaleric academia and Propionic academia.

• Patients and their parents agree to participate in the study

Description

Inclusion Criteria:

  • • Confirmed diagnosis of PKU(chronic 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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
cases group
Metabolic Cases

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Health-related quality of life (HrQoL) questionnaire
Time Frame: 1 year
quality of life in patients with Intoxication-type Inherited Metabolic Diseases
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sohag University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2024

Primary Completion (Estimated)

August 1, 2025

Study Completion (Estimated)

August 1, 2025

Study Registration Dates

First Submitted

August 12, 2024

First Submitted That Met QC Criteria

August 19, 2024

First Posted (Actual)

August 20, 2024

Study Record Updates

Last Update Posted (Actual)

August 20, 2024

Last Update Submitted That Met QC Criteria

August 19, 2024

Last Verified

August 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Soh-Med-24-07-16MS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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