Outcome
Type |
Measure |
Description |
Time frame |
Safety issue |
Primary |
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. |
1 year |
|
Primary |
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. |
1 year |
|
Primary |
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. |
1 day |
|
Primary |
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. |
1 day |
|
Primary |
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. |
1 year |
|
Primary |
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. |
1 year |
|
Secondary |
Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD |
|
23 years |
|
Secondary |
Age at Symptom Onset in Participants With MLD |
Age at symptom onset in participants with MLD in years will be recorded. |
23 years |
|
Secondary |
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. |
23 years |
|
Secondary |
Age of Participants at Diagnosis of MLD |
Age of participants at diagnosis of MLD in years will be recorded. |
23 years |
|
Secondary |
Time of Diagnosis Delay |
Time of diagnosis delay will be computed as age at diagnosis minus age at symptom onset. |
23 years |
|
Secondary |
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. |
23 years |
|
Secondary |
Number of Participants With Disease Diagnosis Based on Confirmatory Tests |
Confirmatory tests will include urine sulfatides, arylsulfatase A (ARSA) activity, ARSA genetic variants. |
23 years |
|
Secondary |
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. |
1 year |
|
Secondary |
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. |
1 year |
|
Secondary |
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. |
23 years |
|
Secondary |
Number of Treatment Types Used for MLD and Sequencing |
|
23 years |
|
Secondary |
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. |
23 years |
|
Secondary |
Number of Participants With Comorbidities and Complications |
|
23 years |
|
Secondary |
Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports |
|
23 years |
|
Secondary |
Mortality Rate Based on Percentage of Participant-Deaths Per Year |
Mortality rate is defined as proportion of deaths per year. |
23 years |
|
Secondary |
Proportion of Participant-Deaths Categorized by Cause of Death |
Proportion of deaths categorized by cause of death will be recorded. |
23 years |
|
Secondary |
Age of Participants With MLD at Death |
Age of MLD participants at death in years will be recorded. |
23 years |
|
Secondary |
Time From Onset of Symptoms to Death |
|
23 years |
|