Clinical trial NCT05755568: A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
Official title: Characterization of Metachromatic Leukodystrophy (MLD) in Pediatric Population in Spain: Epidemiological, Clinical, Diagnostic, Therapeutic, and Socioeconomic Aspects
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Metachromatic Leukodystrophy (MLD)
Keywords: Drug Therapy
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2023-03-06
Enrollment: 0
Sex: ALL
Minimum age (years): 0
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants diagnosed with late infantile or juvenile MLD in Spain.

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.

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.

Primary outcomes:
measure: Overall Number of New Cases Diagnosed With MLD During Year 2022
timeFrame: 1 year
measure: Number of New Cases Diagnosed With MLD per Subgroups of Phenotype During Year 2022
timeFrame: 1 year
measure: Overall Number of Participants With MLD Alive On 31 December 2022
timeFrame: 1 day
measure: Number of Participants With MLD Alive On 31 December 2022 per Subgroups of Phenotype
timeFrame: 1 day
measure: Overall Number of Participants With MLD Alive at Any Time During Year 2022
timeFrame: 1 year
measure: Number of Participants With MLD Alive at Any Time During Year 2022 per Subgroups of Phenotype
timeFrame: 1 year
Secondary outcomes:
measure: Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD
timeFrame: 23 years
measure: Age at Symptom Onset in Participants With MLD
timeFrame: 23 years
measure: Number of Participants With MLD Categorized Based on Clinical Signs/ Symptoms at Disease Onset
timeFrame: 23 years
measure: Age of Participants at Diagnosis of MLD
timeFrame: 23 years
measure: Time of Diagnosis Delay
timeFrame: 23 years
measure: Number of Participants With Disease Diagnosis Based on Different Suggestive Findings
timeFrame: 23 years
measure: Number of Participants With Disease Diagnosis Based on Confirmatory Tests
timeFrame: 23 years
measure: Number of Interactions of Participants With the Healthcare System Post Diagnosis
timeFrame: 1 year
measure: Number of Interactions of Participants With the Healthcare System Post Diagnosis Categorized by Type
timeFrame: 1 year
measure: Number of Participants With Disease Progression
timeFrame: 23 years
measure: Number of Treatment Types Used for MLD and Sequencing
timeFrame: 23 years
measure: Percentage of Participants Under Specific MLD Treatments With Attenuated Disease Progression
timeFrame: 23 years
measure: Number of Participants With Comorbidities and Complications
timeFrame: 23 years
measure: Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports
timeFrame: 23 years
measure: Mortality Rate Based on Percentage of Participant-Deaths Per Year
timeFrame: 23 years
measure: Proportion of Participant-Deaths Categorized by Cause of Death
timeFrame: 23 years
measure: Age of Participants With MLD at Death
timeFrame: 23 years
measure: Time From Onset of Symptoms to Death
timeFrame: 23 years
Other outcomes:
Locations:
city: Santiago de Compostela
country: Spain
facility: Hospital Clinico Universitario de Santiago
state: A Coruna
city: Esplugues de Llobregat
country: Spain
facility: Hospital Sant Joan de Deu
state: Barcelona
city: Barakaldo
country: Spain
facility: Hospital Universitario de Cruces
state: Bizkaia
city: Donostia
country: Spain
facility: Hospital Universitario de Donostia
state: Gipuzkoa
city: Las Palmas de Gran Canaria
country: Spain
facility: Hospital Materno Infantil de Gran Canaria
state: Las Palmas
city: La Laguna
country: Spain
facility: Hospital Universitario de Canarias
state: Santa Cruz De Tenerife
city: Barcelona
country: Spain
facility: Hospital Universitario Vall dHebron
city: Madrid
country: Spain
facility: Hospital Universitario Infantil Nino Jesus
city: Sevilla
country: Spain
facility: Hospital Universitario Virgen del Rocio
city: Valencia
country: Spain
facility: Hospital Universitario y Politecnico La Fe
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References: