Evaluating quality of life in patients with inherited metabolic diseases
Evaluation of Health Related Quality of Life in Patients With Intoxication-type Inherited Metabolic Diseases in Sohag University Hospital
Sohag University · NCT06561503
This study looks at how living with certain inherited metabolic diseases affects the quality of life for children and their families over a year.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 1 Day to 18 Years |
| Sex | All |
| Sponsor | Sohag University (other) |
| Locations | 1 site (Sohag) |
| Trial ID | NCT06561503 on ClinicalTrials.gov |
What this trial studies
This observational study aims to assess the health-related quality of life in children diagnosed with intoxication-type inherited metabolic diseases (IT-IMD) at Sohag University Hospital. It focuses on conditions such as phenylketonuria and various acidemias, which can lead to severe metabolic crises and neurocognitive issues. The study will include children with confirmed diagnoses and will gather data over a one-year period, emphasizing the challenges faced by these patients and their families. Participation requires consent from both patients and their parents.
Who should consider this trial
Good fit: Ideal candidates for this study are children diagnosed with specific inherited metabolic diseases such as PKU, glutaric acidemia, methylmalonic acidemia, isovaleric academia, and propionic academia.
Not a fit: Patients who do not have a confirmed diagnosis of the specified metabolic diseases or those with incomplete medical records may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the quality of life and specific challenges faced by patients with IT-IMD, potentially guiding better management strategies.
How similar studies have performed: While there may be limited studies specifically focusing on quality of life in IT-IMD, similar approaches in assessing chronic conditions have shown promise in improving patient care and outcomes.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Sohag
- Sohag university Hospital — Sohag, Egypt (RECRUITING)
Study contacts
- Study coordinator: Alaa mahmoud, resident
- Email: Alaa.Mahmoud2015@med.sohag.edu.eg
- Phone: 01205993466
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Intoxication-type Inherited Metabolic Diseases