Examination of a potential inflammatory response in the blood of individuals with ALSP and the effect of a stem cell transplant on this inflammatory response

Systemic inflammation in ALSP patients and the effect of an allogenic hematopoietic stem cell transplantation on the inflammation

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN31547763

Enrollment

Registered

2022-08-09

Start date

2022-02-03

Completion date

Unknown

Last updated

2022-08-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Observational study in untreated and treated patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) Nervous System Diseases

Interventions

The procedure includes collection of ±15ml extra venous blood at the moment of venous blood sampling for standard clinical care during a period of 5 years (6 times in total). Primary analyses of plasm

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Diagnosis of ALSP confirmed by a pathogenic CSF1R mutation 2. Aged 18 years or older 3. Capable of giving informed consent

Exclusion criteria

Exclusion criteria: 1. No informed consent given by the patient 2. Cognitive capabilities are too low at inclusion of the study to give informed consent

Design outcomes

Primary

Measure	Time frame
Cytokine profiles in blood before/without treatment, expressed in Normalized Protein eXpression (NPX) in Log2 scale, and cytokine profiles in blood over time (6 times over 5 years)	—

Secondary

Measure	Time frame
Clinical outcomes after treatment measured using patient records 1. Modified Rankin Scale score 2. Guys Neurological Disability score 3. Health Utilities Index score 4. Cognitive function 5. Total HDLS MRI score	—

Countries

Netherlands

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026