Metachromatic Leukodystrophy (MLD)
Conditions
Keywords
Drug Therapy
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.
Interventions
OTHERNo Intervention
As this is an observational study, no intervention will be administered.
Sponsors
Takeda
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 15 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Overall Number of New Cases Diagnosed With MLD During Year 2022 | 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 | 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 | 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 | 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. |
| Overall Number of Participants With MLD Alive at Any Time During Year 2022 | 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 Participants With MLD Alive at Any Time During Year 2022 per Subgroups of Phenotype | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants With Disease Diagnosis Based on Confirmatory Tests | 23 years | Confirmatory tests will include urine sulfatides, arylsulfatase A (ARSA) activity, ARSA genetic variants. |
| Number of Interactions of Participants With the Healthcare System Post Diagnosis | 1 year | Interactions will include visits to nurses, rehabilitators, specialist, and other healthcare professionals (HCPs), attendance to emergency department, hospitalization, hospitalization days, surgery, and MLD-related procedures. |
| Number of Interactions of Participants With the Healthcare System Post Diagnosis Categorized by Type | 1 year | Interactions will be categorized as: visits to nurses, rehabilitators, specialist, and other HCPs, attendance to emergency department, hospitalization, hospitalization days, surgery, and MLD-related procedures. |
| Number of Participants With Disease Progression | 23 years | Disease progression will be analysed using brain MRI, MR spectroscopy, weight, height, and head circumference, fine motor function, gross motor function, speech function (expressive language), non-verbal communication, musculoskeletal symptoms, eating/drinking ability, cognitive status, social/behavioural function, nerve conduction and sleep quality. |
| Number of Treatment Types Used for MLD and Sequencing | 23 years | — |
| Percentage of Participants Under Specific MLD Treatments With Attenuated Disease Progression | 23 years | The percentage of participants under specific MLD treatments with attenuated disease progression will be assessed using the participants' electronic medical records. |
| Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD | 23 years | — |
| Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports | 23 years | — |
| Mortality Rate Based on Percentage of Participant-Deaths Per Year | 23 years | Mortality rate is defined as proportion of deaths per year. |
| Proportion of Participant-Deaths Categorized by Cause of Death | 23 years | Proportion of deaths categorized by cause of death will be recorded. |
| Age of Participants With MLD at Death | 23 years | Age of MLD participants at death in years will be recorded. |
| Time From Onset of Symptoms to Death | 23 years | — |
| Number of Participants With Comorbidities and Complications | 23 years | — |
| Age at Symptom Onset in Participants With MLD | 23 years | Age at symptom onset in participants with MLD in years will be recorded. |
| Number of Participants With MLD Categorized Based on Clinical Signs/ Symptoms at Disease Onset | 23 years | Clinical signs and symptoms include impaired gross motor skills, impaired fine motor skills, impaired language skills, impaired non-verbal communication, cognition, feeding/swallowing difficulties, skeletal deformity, musculoskeletal pain. |
| Age of Participants at Diagnosis of MLD | 23 years | Age of participants at diagnosis of MLD in years will be recorded. |
| Time of Diagnosis Delay | 23 years | Time of diagnosis delay will be computed as age at diagnosis minus age at symptom onset. |
| Number of Participants With Disease Diagnosis Based on Different Suggestive Findings | 23 years | Suggestive findings will include motor, cognitive, behavioural, magnetic resonance imaging (MRI) and magnetic resonance (MR) spectroscopy. |
Countries
Spain
Outcome results
None listed