atural History Study in Leukodystrophies

Recruiting

• Conditions: E75.2; Other sphingolipidosis

• Registration Number: DRKS00030287
• Lead Sponsor: Department of Pediatric Neurology, University Children’s Hospital

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-10-25
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 500

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

Missing informed consent of primary or secondary participant/ healthy control/ legal representatives

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Clinical data on the natural history of leukodystrophies using established neurological scores and symptomatology to describe disease characteristics and disease course. <br>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 Outcome Measures

Name	Time	Method
Disease progression measured by alternative clinical, digital (sensor, imaging), patient/observer reported and molecular outcome parameters