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Immune cell profiles in the blood in children, adolescents and adults with tuberous sclerosis complex disease and their correlation with organ manifestations and treatment response to immunotherapy with mTOR inhibitors

Immune cell profiles in the blood in children, adolescents and adults with tuberous sclerosis complex disease and their correlation with organ manifestations and treatment response to immunotherapy with mTOR inhibitors

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00022991
Enrollment
90
Registered
2020-09-23
Start date
2020-10-01
Completion date
Unknown
Last updated
2025-04-07

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

Conditions

Q85.1 G40

Interventions

Group 1: Patients with confirmed TSC and epilepsy under treatment with an mTOR inhibitor (everolimus, sirolimus) - One-time blood collection and collection of clinical and epidemiological data Group 2

Sponsors

Universitätsklinikum Münster
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: Children and adults; clinically and / or molecular-genetic (from the blood) confirmed tuberous sclerosis with epilepsy. Control group: epilepsy without evidence of tuberous sclerosis; People with no evidence of a neurological disease

Exclusion criteria

Exclusion criteria: Current immunotherapy except mTOR inhibitor therapy (everolimus, sirolimus) (control group of healthy people and people with epilepsy without tuberous sclerosis: also excluded when taking everolimus, sirolimus); current infection; comorbid autoimmune disease

Design outcomes

Primary

MeasureTime frame
Changes in the immune signature of the blood in patients with tuberous sclerosis compared to patients with epilepsy

Secondary

MeasureTime frame
Changes in the immune signature of the blood in patients with and without therapy with an mTOR inhibitor (everolimus, sirolimus)

Countries

Germany

Contacts

Public ContactDaniel Ebrahimi-Fakhari

Klinik für Kinder- und Jugendmedizin, Allgemeine Pädiatrie, Universitätsklinikum Münster

daniel.ebrahimi-fakhari@ukmuenster.de0251-83-40073

Outcome results

None listed

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