A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
- Conditions
- Metachromatic Leukodystrophy (MLD)
- Interventions
- Other: No Intervention
- Registration Number
- NCT05755568
- Lead Sponsor
- Takeda
- 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.
Recruitment & Eligibility
- Status
- WITHDRAWN
- Sex
- All
- Target Recruitment
- Not specified
• Diagnosed with late infantile or juvenile MLD at any time between 01 January 2000 and 31 December 2022 (genetically and/or biochemically confirmed).
• This study has no exclusion criteria.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description MLD Participants No Intervention Data from medical records of participants diagnosed with late infantile or juvenile MLD at any time from 1 January 2000 to 31 December 2022 will be observed retrospectively.
- Primary Outcome Measures
Name Time Method 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.
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.
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.
- Secondary Outcome Measures
Name Time Method 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 Age of participants at diagnosis of MLD in years will be recorded.
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.
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 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.
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 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.
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 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 Proportion of deaths categorized by cause of death 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 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 the Different Types of Symptomatic/Palliative Treatments and Supports 23 years 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 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.
Mortality Rate Based on Percentage of Participant-Deaths Per Year 23 years Mortality rate is defined as proportion of deaths per year.
Trial Locations
- Locations (10)
Hospital Clinico Universitario de Santiago
🇪🇸Santiago de Compostela, A Coruna, Spain
Hospital Universitario y Politecnico La Fe
🇪🇸Valencia, Spain
Hospital Universitario de Cruces
🇪🇸Barakaldo, Bizkaia, Spain
Hospital Universitario de Canarias
🇪🇸La Laguna, Santa Cruz De Tenerife, Spain
Hospital Universitario Vall dHebron
🇪🇸Barcelona, Spain
Hospital Universitario Infantil Nino Jesus
🇪🇸Madrid, Spain
Hospital Universitario Virgen del Rocio
🇪🇸Sevilla, Spain
Hospital Materno Infantil de Gran Canaria
🇪🇸Las Palmas de Gran Canaria, Las Palmas, Spain
Hospital Universitario de Donostia
🇪🇸Donostia, Gipuzkoa, Spain
Hospital Sant Joan de Deu
🇪🇸Esplugues de Llobregat, Barcelona, Spain