Metachromatic Leukodystrophy (MLD)mECHromaticNCT05755568
A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
An observational study of Metachromatic Leukodystrophy (MLD), run by Takeda at 10 sites in Spain.
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. Read more about this study
- Who is it for?
- Ages 0 to 15 years
- Conditions the study is for
- Metachromatic Leukodystrophy (MLD)
- How many people
- 0 participants
- Where
- 10 sitesSpain
- Study dates
- 30 Nov 2023to 1 Jul 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: Participants diagnosed with late infantile or juvenile MLD in Spain.
Who may be able to join
- Diagnosed with late infantile or juvenile MLD at any time between 01 January 2000 and 31 December 2022 (genetically and/or biochemically confirmed).
Who cannot join
- This study has no exclusion criteria.
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
Spain10 sites
Hospital Universitario de Cruces
Barakaldo, Bizkaia, 48903
Hospital Universitario Vall dHebron
Barcelona, 08035
Hospital Universitario de Donostia
Donostia / San Sebastian, Gipuzkoa, 20014
Hospital Sant Joan de Deu
Esplugues de Llobregat, Barcelona, 08950
Hospital Materno Infantil de Gran Canaria
Las Palmas de Gran Canaria, Las Palmas, 35016
Hospital Universitario Infantil Nino Jesus
Madrid, 28009
Hospital Universitario de Canarias
San Cristóbal de La Laguna, Santa Cruz De Tenerife, 38320
Hospital Clinico Universitario de Santiago
Santiago de Compostela, A Coruna, 15706
Hospital Universitario Virgen del Rocio
Seville, 41013
Hospital Universitario y Politecnico La Fe
Valencia, 46026
About this study
Official title: 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.
Read the 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.
- Conditions
- Metachromatic Leukodystrophy (MLD)
- Being tested
- No Intervention
- Keywords
- Drug Therapy
- Medical subject headings
- Leukodystrophy, Metachromatic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
As this is an observational study, no intervention will be administered.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 1 year
Secondary outcomes (18)
Number of Late Infantile and Juvenile (Early Juvenile and Late Juvenile) Phenotypes in Participants With MLD
Measured: 23 years
Age at Symptom Onset in Participants With MLD
Age at symptom onset in participants with MLD in years will be recorded.
Measured: 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.
Measured: 23 years
Age of Participants at Diagnosis of MLD
Age of participants at diagnosis of MLD in years will be recorded.
Measured: 23 years
Time of Diagnosis Delay
Time of diagnosis delay will be computed as age at diagnosis minus age at symptom onset.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 23 years
Number of Treatment Types Used for MLD and Sequencing
Measured: 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.
Measured: 23 years
Number of Participants With Comorbidities and Complications
Measured: 23 years
Number of Participants With the Different Types of Symptomatic/Palliative Treatments and Supports
Measured: 23 years
Mortality Rate Based on Percentage of Participant-Deaths Per Year
Mortality rate is defined as proportion of deaths per year.
Measured: 23 years
Proportion of Participant-Deaths Categorized by Cause of Death
Proportion of deaths categorized by cause of death will be recorded.
Measured: 23 years
Age of Participants With MLD at Death
Age of MLD participants at death in years will be recorded.
Measured: 23 years
Time From Onset of Symptoms to Death
Measured: 23 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2023
- Study start30 Nov 2023 (estimated)
- Primary completion1 Jul 2024 (estimated)
- Study completion1 Jul 2024 (estimated)
Why it stopped: Company decision after projects re-evaluation, taken before the study initiation.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Metachromatic Leukodystrophy (MLD)Studies of the same condition, open and under way.
- More trials run by TakedaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Takeda
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Takeda
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05755568
- Sponsor's protocol ID
- TAK-611-5002
- Acronym
- mECHromatic
- Status last verified
- Jan 2024
- First submitted
- 2 Feb 2023
- Last updated
- 12 Jan 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: 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.
Study at a glance
From the registry record, last updated by the sponsor on 12 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Metachromatic Leukodystrophy (MLD) in Pediatric Population in Spain: Epidemiological, Clinical, Diagnostic, Therapeutic, and Socioeconomic Aspects
- ClinicalTrials.gov ID
- NCT05755568
- Acronym / sponsor ID
- mECHromatic / TAK-611-5002
- Conditions
- Metachromatic Leukodystrophy (MLD)
- Keywords
- Drug Therapy
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Company decision after projects re-evaluation, taken before the study initiation.
- Enrolment
- 0 participants (actual)
- Lead sponsor
- TakedaIndustry (pharma, biotech, devices)
- Study start
- 30 Nov 2023 (estimated)
- Primary completion
- 1 Jul 2024 (estimated)
- Study completion
- 1 Jul 2024 (estimated)
- First posted
- 6 Mar 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MLD Participants | – | Other: No InterventionData 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. |
Who may qualify
- Ages
- 0 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Participants diagnosed with late infantile or juvenile MLD in Spain.
Key inclusion criteria (1 listed)
- Diagnosed with late infantile or juvenile MLD at any time between 01 January 2000 and 31 December 2022 (genetically and/or biochemically confirmed).
Key exclusion criteria (1 listed)
- This study has no exclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionAs this is an observational study, no intervention will be administered. | Other | MLD Participants |
Primary outcome
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.
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.
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.
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.
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.
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.
18 secondary outcomes
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
Time frame: 23 years
Number of Participants With MLD Categorized Based on Clinical Signs/ Symptoms at Disease Onset
Time frame: 23 years
Age of Participants at Diagnosis of MLD
Time frame: 23 years
Time of Diagnosis Delay
Time frame: 23 years
Number of Participants With Disease Diagnosis Based on Different Suggestive Findings
Time frame: 23 years
Number of Participants With Disease Diagnosis Based on Confirmatory Tests
Time frame: 23 years
Number of Interactions of Participants With the Healthcare System Post Diagnosis
Time frame: 1 year
Number of Interactions of Participants With the Healthcare System Post Diagnosis Categorized by Type
Time frame: 1 year
Number of Participants With Disease Progression
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
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
Time frame: 23 years
Proportion of Participant-Deaths Categorized by Cause of Death
Time frame: 23 years
Age of Participants With MLD at Death
Time frame: 23 years
Time From Onset of Symptoms to Death
Time frame: 23 years
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jan 2024.
- To obtain more information on the study, click here/on this linkLink provided by the sponsor.
- Individual participant dataSharing planned: No. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Study Director study director
Takeda
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Metachromatic Leukodystrophy (MLD), run by Takeda at 10 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 12 Jan 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Overall Number of New Cases Diagnosed With MLD During Year 2022 (time frame: 1 year). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jan 2024.