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

Metachromatic Leukodystrophy (MLD) Clinical Trial

— mECHromatic  

Official title:

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

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT05755568
• Other study ID #: TAK-611-5002
• Status: Withdrawn
• Start date: November 30, 2023
• Est. completion date: July 1, 2024

Study information

• Verified date: January 2024
• Source: Takeda
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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 information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: July 1, 2024
• Est. primary completion date: July 1, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years to 15 Years

Eligibility

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.

Related Conditions & MeSH terms

• Leukodystrophy, Metachromatic
• Metachromatic Leukodystrophy (MLD)

Intervention

Other:
• No Intervention
As this is an observational study, no intervention will be administered.

Locations

Country	Name	City	State
Spain	Hospital Universitario de Cruces	Barakaldo	Bizkaia
Spain	Hospital Universitario Vall dHebron	Barcelona
Spain	Hospital Universitario de Donostia	Donostia	Gipuzkoa
Spain	Hospital Sant Joan de Deu	Esplugues de Llobregat	Barcelona
Spain	Hospital Universitario de Canarias	La Laguna	Santa Cruz De Tenerife
Spain	Hospital Materno Infantil de Gran Canaria	Las Palmas de Gran Canaria	Las Palmas
Spain	Hospital Universitario Infantil Nino Jesus	Madrid
Spain	Hospital Clinico Universitario de Santiago	Santiago de Compostela	A Coruna
Spain	Hospital Universitario Virgen del Rocio	Sevilla
Spain	Hospital Universitario y Politecnico La Fe	Valencia

Sponsors (1)

Lead Sponsor	Collaborator
Takeda

Country where clinical trial is conducted

Spain, 

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

External Links

•   To obtain more information on the study, click here/on this link