Characterization of Metachromatic Leukodystrophy (MLD) in Pediatric Population in Spain: Epidemiological, Clinical, Diagnostic, Therapeutic, and Socioeconomic Aspects
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Metachromatic Leukodystrophy (MLD)
- Sponsor
- Takeda
- Locations
- 10
- Primary Endpoint
- Number of Participants With MLD Alive at Any Time During Year 2022 per Subgroups of Phenotype
- Status
- Withdrawn
- Last Updated
- 2 years ago
Overview
Brief Summary
The main aim of this study is to learn about metachromatic leukodystrophy (MLD) in children and teenagers in Spain. This includes checking the number of new MLD cases and the frequency of children with MLD in 2022 in Spain.
There is no treatment involved in this study. Participants' data will be taken from their medical records (charts), which were already collected as a part of their routine care between 01 January 2000 and 31 December 2022.
Detailed Description
This is a non-interventional, retrospective study of participants diagnosed with late infantile or juvenile MLD whose data will be retrieved from existing health records. Data from all participants, diagnosed with MLD from 01 January 2000 to 31 December 2022 will be collected from health records, including demographic and clinical data from the pre-diagnosis until the date of data collection or death, whatever occurs first. The study will be conducted in Spain. The overall duration for data extraction is up to approximately 23 years.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Diagnosed with late infantile or juvenile MLD at any time between 01 January 2000 and 31 December 2022 (genetically and/or biochemically confirmed).
Exclusion Criteria
- •This study has no exclusion criteria.
Outcomes
Primary Outcomes
Number of Participants With MLD Alive at Any Time During Year 2022 per Subgroups of Phenotype
Time Frame: 1 year
Data for Year 2022 will be considered as a part of retrospective data collection from 01 January 2000 to 31 December 2022 obtained from health records.
Overall Number of Participants With MLD Alive at Any Time During Year 2022
Time Frame: 1 year
Data for Year 2022 will be considered as a part of retrospective data collection from 01 January 2000 to 31 December 2022 obtained from health records.
Overall Number of New Cases Diagnosed With MLD During Year 2022
Time Frame: 1 year
Data for Year 2022 will be considered as a part of retrospective data collection from 01 January 2000 to 31 December 2022 obtained from health records.
Number of New Cases Diagnosed With MLD per Subgroups of Phenotype During Year 2022
Time Frame: 1 year
Data for Year 2022 will be considered as a part of retrospective data collection from 01 January 2000 to 31 December 2022 obtained from health records.
Overall Number of Participants With MLD Alive On 31 December 2022
Time Frame: 1 day
Data for this outcome measure will be collected on last day of retrospective data collection from 01 January 2000 to 31 December 2022 obtained from health records.
Number of Participants With MLD Alive On 31 December 2022 per Subgroups of Phenotype
Time Frame: 1 day
Data for this outcome measure will be collected on last day of retrospective data collection from 01 January 2000 to 31 December 2022 obtained from health records.
Secondary Outcomes
- Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD(23 years)
- Age of Participants at Diagnosis of MLD(23 years)
- Number of Participants With Disease Diagnosis Based on Different Suggestive Findings(23 years)
- Number of Interactions of Participants With the Healthcare System Post Diagnosis(1 year)
- Number of Participants With MLD Categorized Based on Clinical Signs/ Symptoms at Disease Onset(23 years)
- Number of Participants With Disease Diagnosis Based on Confirmatory Tests(23 years)
- Number of Participants With Disease Progression(23 years)
- Age at Symptom Onset in Participants With MLD(23 years)
- Number of Treatment Types Used for MLD and Sequencing(23 years)
- Number of Participants With Comorbidities and Complications(23 years)
- Proportion of Participant-Deaths Categorized by Cause of Death(23 years)
- Time of Diagnosis Delay(23 years)
- Number of Interactions of Participants With the Healthcare System Post Diagnosis Categorized by Type(1 year)
- Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports(23 years)
- Age of Participants With MLD at Death(23 years)
- Time From Onset of Symptoms to Death(23 years)
- Percentage of Participants Under Specific MLD Treatments With Attenuated Disease Progression(23 years)
- Mortality Rate Based on Percentage of Participant-Deaths Per Year(23 years)