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.
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.
Study Type
OBSERVATIONAL
As this is an observational study, no intervention will be administered.
Hospital Clinico Universitario de Santiago
Santiago de Compostela, A Coruna, Spain
Hospital Sant Joan de Deu
Esplugues de Llobregat, Barcelona, Spain
Hospital Universitario de Cruces
Barakaldo, Bizkaia, Spain
Overall Number of New Cases Diagnosed With MLD During Year 2022
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.
Time frame: 1 year
Number of New Cases Diagnosed With MLD per Subgroups of Phenotype During Year 2022
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.
Time frame: 1 year
Overall Number of Participants With MLD Alive On 31 December 2022
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.
Time frame: 1 day
Number of Participants With MLD Alive On 31 December 2022 per Subgroups of Phenotype
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.
Time frame: 1 day
Overall Number of Participants With MLD Alive at Any Time During Year 2022
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.
Time frame: 1 year
Number of Participants With MLD Alive at Any Time During Year 2022 per Subgroups of Phenotype
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.
Time frame: 1 year
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Hospital Universitario de Donostia
Donostia / San Sebastian, Gipuzkoa, Spain
Hospital Materno Infantil de Gran Canaria
Las Palmas de Gran Canaria, Las Palmas, Spain
Hospital Universitario de Canarias
San Cristóbal de 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
Seville, Spain
Hospital Universitario y Politecnico La Fe
Valencia, Spain
Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD
Time frame: 23 years
Age at Symptom Onset in Participants With MLD
Age at symptom onset in participants with MLD in years will be recorded.
Time frame: 23 years
Number of Participants With MLD Categorized Based on Clinical Signs/ Symptoms at Disease Onset
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.
Time frame: 23 years
Age of Participants at Diagnosis of MLD
Age of participants at diagnosis of MLD in years will be recorded.
Time frame: 23 years
Time of Diagnosis Delay
Time of diagnosis delay will be computed as age at diagnosis minus age at symptom onset.
Time frame: 23 years
Number of Participants With Disease Diagnosis Based on Different Suggestive Findings
Suggestive findings will include motor, cognitive, behavioural, magnetic resonance imaging (MRI) and magnetic resonance (MR) spectroscopy.
Time frame: 23 years
Number of Participants With Disease Diagnosis Based on Confirmatory Tests
Confirmatory tests will include urine sulfatides, arylsulfatase A (ARSA) activity, ARSA genetic variants.
Time frame: 23 years
Number of Interactions of Participants With the Healthcare System Post Diagnosis
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.
Time frame: 1 year
Number of Interactions of Participants With the Healthcare System Post Diagnosis Categorized by Type
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.
Time frame: 1 year
Number of Participants With Disease Progression
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.
Time frame: 23 years
Number of Treatment Types Used for MLD and Sequencing
Time frame: 23 years
Percentage of Participants Under Specific MLD Treatments With Attenuated Disease Progression
The percentage of participants under specific MLD treatments with attenuated disease progression will be assessed using the participants' electronic medical records.
Time frame: 23 years
Number of Participants With Comorbidities and Complications
Time frame: 23 years
Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports
Time frame: 23 years
Mortality Rate Based on Percentage of Participant-Deaths Per Year
Mortality rate is defined as proportion of deaths per year.
Time frame: 23 years
Proportion of Participant-Deaths Categorized by Cause of Death
Proportion of deaths categorized by cause of death will be recorded.
Time frame: 23 years
Age of Participants With MLD at Death
Age of MLD participants at death in years will be recorded.
Time frame: 23 years
Time From Onset of Symptoms to Death
Time frame: 23 years