LIPAD - LRRK2 International Parkinson's Disease Study

NCT ID: NCT04214509

Last Updated: 2020-02-27

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 4000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-01-20
• Study Completion Date: 2021-12-31

Brief Summary

The study aims to identify and systematically characterize Parkinson's patients with mutations in the LRRK2 gene. In about 90% of Parkinson's patients the cause of the disease is unclear. Based on current knowledge, it can be assumed that there are several causes and that the causes may be differ between patients; this makes research into the pathogenesis and possible therapies very difficult. In the case of monogenic Parkinson's diseases, which are due to changes in one gene (e.g. LRRK2), the function of the gene and possible disease mechanisms can be investigated. LRRK2-associated Parkinson's syndrome is clinically indistinguishable from idiopathic Parkinson's disease. It is inherited autosomal dominant, that means if one of the two gene copies is altered, the disease occurs. However, the disease does not occur in every mutation carrier, the penetrance is reduced and the mechanisms for that are still unclear. Ideally, knowledge of what influences penetrance could make it possible to exert targeted influence and prevent the disease. The comprehensive investigation of mechanisms of reduced penetrance but also of the effects of the mutation itself requires systematic investigations of as many affected persons as possible. We therefore aim to identify 4,000 people internationally, of them 1,500 with LRRK2-associated Parkinson's syndrome, 500 with LRRK2-mutations but without Parkinson's symptoms, 500 without mutations and without Parkinson's symptoms, 500 Parkinson patients with mutations in other genes than LRRK2 and 1,000 patients with idiopathic Parkinson's disease from the same populations. The participants will undergo a comprehensive survey on Parkinson's symptoms, concomitant diseases, environmental factors and medication and there is the possibility of more detailed genetic examinations. Participants will be asked to donate samples of blood, urine and household dust.

Conditions

Parkinson's Disease and Parkinsonism

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

PD + LRRK2

Patients with LRRK2-associated Parkinson's syndrome

No interventions assigned to this group

no PD + LRRK2

Participants with LRRK2-mutations but without Parkinson's symptoms

No interventions assigned to this group

no PD + no LRRK2

Participants without mutations and without Parkinson's symptoms

No interventions assigned to this group

PD+ other than LRRK2

Parkinson patients with mutations in other genes than LRRK2

No interventions assigned to this group

PD+ no LRRK2

Patients with idiopathic Parkinson's disease

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Informed consent is obtained from the participant.
• The participant is clinically diagnosed with Parkinson's disease or the individual is a family member of a participant with LRRK2 parkinsonism or is a member of a high risk population with an early PD onset.
• The participant is equal to or older than 18 years old.

Exclusion Criteria

• Inability to provide informed consent.
• The participant is not suffering from Parkinson's disease or the individual is not a family member of a participant with LRRK2 parkinsonism or is not a member of a high risk population.
• The participant is younger than 18 years old.
• Previously enrolled in the study.
• Participant in custody.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

CENTOGENE GmbH Rostock

INDUSTRY

Sponsor Role: collaborator

University of Luebeck

OTHER

Sponsor Role: lead

Responsible Party

Meike Kasten

Prof.

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Christine Klein, Prof. Dr.

Role: PRINCIPAL_INVESTIGATOR

Institute of Neurogenetics, University of Luebeck

Meike Kasten, Prof. Dr.

Role: PRINCIPAL_INVESTIGATOR

Department of Psychiatry, University of Luebeck

Locations

Institute of Neurogenetics

Lübeck, Schelswig-Holstein, Germany

Site Status: RECRUITING

Countries

Germany

Central Contacts

Meike Kasten, Prof. Dr.

Role: CONTACT

lipad.ropad@neuro.uni-luebeck.de

+4945131017518

Facility Contacts

Tatiana Usnich, MD, PhD

Role: primary

+4945131017518

Nathalie Schell, MD

Role: backup

+4945131017518

References

Usnich T, Vollstedt EJ, Schell N, Skrahina V, Bogdanovic X, Gaber H, Forster TM, Heuer A, Koleva-Alazeh N, Csoti I, Basak AN, Ertan S, Genc G, Bauer P, Lohmann K, Grunewald A, Schymanski EL, Trinh J, Schaake S, Berg D, Gruber D, Isaacson SH, Kuhn AA, Mollenhauer B, Pedrosa DJ, Reetz K, Sammler EM, Valente EM, Valzania F, Volkmann J, Zittel S, Bruggemann N, Kasten M, Rolfs A, Klein C; LIPAD Study Group. LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort. Front Neurol. 2021 Aug 9;12:710572. doi: 10.3389/fneur.2021.710572. eCollection 2021.

Reference Type: DERIVED

PMID: 34475849 (View on PubMed)

Other Identifiers

LIPAD

Identifier Type: -

Identifier Source: org_study_id