E75.2
Conditions
Interventions
Group 1: observational study for patients with leukodystrophies as a registry
Sponsors
Department of Pediatric Neurology, University Children’s Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: One of the following: a) Primary participant: Clinical or genetic diagnosis of leukodystrophies or a related disorder b) Secondary participant: Unaffected family member (1st or 2nd degree relative) of primary participant (with the above-mentioned restrictions for special populations) able to give informed consent
Exclusion criteria
Exclusion criteria: Missing informed consent of primary or secondary participant/ healthy control/ legal representatives
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical data on the natural history of leukodystrophies using established neurological scores and symptomatology to describe disease characteristics and disease course. Genotype-specific disease progression, depending on clinical subtype of LD, measured by the respective clinical Scale. Mainly, Spastic Paraplegia Rating Scale (SPRS), Scale for the assessment and rating of Ataxie (SARA) and Montreal Cognitive Assessment (MoCA), modified Ranking Scale (mRS), Gross Motor Function Classification in MLD (GMFC-MLD) will be used. | — |
Secondary
| Measure | Time frame |
|---|---|
| Disease progression measured by alternative clinical, digital (sensor, imaging), patient/observer reported and molecular outcome parameters | — |
Countries
Germany
Contacts
Public ContactSamuel Gröschel
Department of Pediatric Neurology, University Children’s Hospital
Outcome results
None listed