A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain (mECHromatic)

January 10, 2024 updated by: Takeda

Characterization of Metachromatic Leukodystrophy (MLD) in Pediatric Population in Spain: Epidemiological, Clinical, Diagnostic, Therapeutic, and Socioeconomic Aspects

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.

Study Overview

Status

Withdrawn

Conditions

Intervention / Treatment

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.

Study Type

Observational

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Spain
      • Barcelona, Spain, 08035
      • Madrid, Spain, 28009
      • Sevilla, Spain, 41013
        • Hospital Universitario Virgen del Rocio
        • Contact:
        • Principal Investigator:
          • Munoz Cabello
      • Valencia, Spain, 46026
        • Hospital Universitario y Politecnico La Fe
        • Contact:
        • Principal Investigator:
          • Beatriz Beseler
    • A Coruna
      • Santiago de Compostela, A Coruna, Spain, 15706
        • Hospital Clínico Universitario de Santiago
        • Contact:
        • Principal Investigator:
          • Jesus Eiris
    • Barcelona
      • Esplugues de Llobregat, Barcelona, Spain, 08950
        • Hospital Sant Joan de Déu
        • Contact:
        • Principal Investigator:
          • Maria del Mar OCallaghan
    • Bizkaia
    • Gipuzkoa
    • Las Palmas
      • Las Palmas de Gran Canaria, Las Palmas, Spain, 35016
        • Hospital Materno Infantil de Gran Canaria
        • Contact:
        • Principal Investigator:
          • Alexandre Santana
    • Santa Cruz De Tenerife
      • La Laguna, Santa Cruz De Tenerife, Spain, 38320
        • Hospital Universitario de Canarias
        • Contact:
        • Principal Investigator:
          • Maria Salvador

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 second to 15 years (Child)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

Participants diagnosed with late infantile or juvenile MLD in Spain.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
MLD Participants
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.
Other: No Intervention
As this is an observational study, no intervention will be administered.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Overall Number of New Cases Diagnosed With MLD During Year 2022
Time Frame: 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.
1 year
Number of New Cases Diagnosed With MLD per Subgroups of Phenotype During Year 2022
Time Frame: 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.
1 year
Overall Number of Participants With MLD Alive On 31 December 2022
Time Frame: 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.
1 day
Number of Participants With MLD Alive On 31 December 2022 per Subgroups of Phenotype
Time Frame: 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.
1 day
Overall Number of Participants With MLD Alive at Any Time During Year 2022
Time Frame: 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.
1 year
Number of Participants With MLD Alive at Any Time During Year 2022 per Subgroups of Phenotype
Time Frame: 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.
1 year

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD
Time Frame: 23 years
23 years
Age at Symptom Onset in Participants With MLD
Time Frame: 23 years
Age at symptom onset in participants with MLD in years will be recorded.
23 years
Number of Participants With MLD Categorized Based on Clinical Signs/ Symptoms at Disease Onset
Time Frame: 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.
23 years
Age of Participants at Diagnosis of MLD
Time Frame: 23 years
Age of participants at diagnosis of MLD in years will be recorded.
23 years
Time of Diagnosis Delay
Time Frame: 23 years
Time of diagnosis delay will be computed as age at diagnosis minus age at symptom onset.
23 years
Number of Participants With Disease Diagnosis Based on Different Suggestive Findings
Time Frame: 23 years
Suggestive findings will include motor, cognitive, behavioural, magnetic resonance imaging (MRI) and magnetic resonance (MR) spectroscopy.
23 years
Number of Participants With Disease Diagnosis Based on Confirmatory Tests
Time Frame: 23 years
Confirmatory tests will include urine sulfatides, arylsulfatase A (ARSA) activity, ARSA genetic variants.
23 years
Number of Interactions of Participants With the Healthcare System Post Diagnosis
Time Frame: 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.
1 year
Number of Interactions of Participants With the Healthcare System Post Diagnosis Categorized by Type
Time Frame: 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.
1 year
Number of Participants With Disease Progression
Time Frame: 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.
23 years
Number of Treatment Types Used for MLD and Sequencing
Time Frame: 23 years
23 years
Percentage of Participants Under Specific MLD Treatments With Attenuated Disease Progression
Time Frame: 23 years
The percentage of participants under specific MLD treatments with attenuated disease progression will be assessed using the participants' electronic medical records.
23 years
Number of Participants With Comorbidities and Complications
Time Frame: 23 years
23 years
Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports
Time Frame: 23 years
23 years
Mortality Rate Based on Percentage of Participant-Deaths Per Year
Time Frame: 23 years
Mortality rate is defined as proportion of deaths per year.
23 years
Proportion of Participant-Deaths Categorized by Cause of Death
Time Frame: 23 years
Proportion of deaths categorized by cause of death will be recorded.
23 years
Age of Participants With MLD at Death
Time Frame: 23 years
Age of MLD participants at death in years will be recorded.
23 years
Time From Onset of Symptoms to Death
Time Frame: 23 years
23 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Takeda

Investigators

  • Study Director: Study Director, Takeda

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

November 30, 2023

Primary Completion (Estimated)

July 1, 2024

Study Completion (Estimated)

July 1, 2024

Study Registration Dates

First Submitted

February 2, 2023

First Submitted That Met QC Criteria

February 23, 2023

First Posted (Actual)

March 6, 2023

Study Record Updates

Last Update Posted (Actual)

January 12, 2024

Last Update Submitted That Met QC Criteria

January 10, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • TAK-611-5002

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Takeda does not provide access to Individual Participant Data when a study is in a very limited (small) study population due to participant privacy concerns such as potential reidentification of study participants.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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