Ignite Creation Date:
2024-05-06 @ 6:36 PM
Last Modification Date:
2024-10-26 @ 2:51 PM
Study NCT ID:
NCT05713721
Status:
RECRUITING
Last Update Posted:
2023-06-23
First Post:
2023-01-27
Brief Title:
Sensorimotor Integration in Monogenic Parkinson-dystonia Syndromes
Sponsor:
University Hospital Schleswig-Holstein
Organization:
University Hospital Schleswig-Holstein
Study Overview
Official Title:
SensoMo-PD Sensorimotor Integration in Monogenic Parkinson-dystonia Syndromes
Status:
RECRUITING
Status Verified Date:
2023-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
SensoMo-PD
Brief Summary:
Hereditary Parkinson and dystonia syndromes are rare as are people who carry the predisposition for Parkinson or dystonia but do not have symptoms It is particularly important to study these people because they are a good model for understanding the development of common non-hereditary Parkinsons and dystonia To do this the investigators want to look at how the brain works and how different areas of the brain communicate with each other The investigators want to identify differences in brain regions connecting perception and action between mutation carriers that develop clinical symptoms and those who stay healthy in different subgroups of inherited Parkinson-dystonia syndromes Mutation carriers with and without symptoms of three different inherited Parkinson-dystonia syndromes will be investigated at their homes with the help of a mobile examination unit To detect even subtle signs which the mutation carriers might not even be aware of the investigators will use a detailed video-based and -documented movement examination and a non-invasive magnetic stimulation technique that investigates how a sensory ie electrical stimulus can influence the motor response in a hand muscle Our study will allow the investigators on the one hand to define specific markers that protect some mutation carriers from having clinical symptoms and on the other hand to identify neurophysiological characteristics that all mutation carriers share whether or not they have clinical symptoms These are important information for a better understanding of the basis of these disorders and for the development of new treatment strategies which can also be transferred to genetically-undefined Parkinsons and dystonia syndromes Through this study large groups of mutation carriers that have received an in-depth clinical and neurophysiological examination and can be investigated longitudinally in future studies will be build up
Detailed Description:
Monogenic Parkinson-dystonia syndromes are rare but very valuable model disorders for genetically undefined syndromes as their genetic cause ie pathogenic gene variants have been identified For certain subtypes even the neuroanatomical basis was discovered Despite the different genetic and anatomical characteristics a strong clinical overlap was reported between PARK-ParkinPARK-PINK1 DYTPARK-GCH1 and DYTPARK-TAF1
Interestingly previous research in these different Parkinson-dystonia syndromes suggests a distinct pattern of neurophysiological alterations within the primary motor and premotor-motor network for each syndrome Even asymptomatic heterozygous mutation carriers show abnormalities within neurophysiological and in addition functional metabolic and structural imaging studies
In general a better clinical and neurophysiological evaluation of asymptomatic compared to symptomatic mutation carriers and healthy controls across subgroups is warranted However the number of mutation carriers per subgroup is limited and some are unable to travel to Lübeck to participate in research To increase the participant size in addition to the examination in our neurophysiological laboratory the investigators want to visit and investigate some mutation carriers in their home environment with a mobile examination unit In this regard the transcranial magnetic stimulation paradigm of short-latency afferent inhibition SAI is of great interest as it can reliably capture the effects of sensory input median nerve stimulation on motor output MEP amplitude without complex neuronavigation Additionally a video-based clinical examination will be performed which will be rated offline in a blinded fashion by movement disorder specialists to correlate SAI with symptom severity
Therefore the proposed project will for the first time allow a direct comparison of sensorimotor integration deficits in correlation to clinical signs between three different monogenic Parkinson-dystonia syndromes Furthermore contrasting the findings between asymptomatic and symptomatic mutation carriers will help on the one hand to draw conclusions on potential protective markers and on the other hand to identify neurophysiological endophenotypes Furthermore successful completion of the project will generate clinically well-defined monogenic subgroups with particular sensorimotor abnormalities who can serve as model disorders in further research projects that aim to characterize sensorimotor deficit in a cognitive framework and in a longitudinal fashion
Interestingly previous research in these different Parkinson-dystonia syndromes suggests a distinct pattern of neurophysiological alterations within the primary motor and premotor-motor network for each syndrome Even asymptomatic heterozygous mutation carriers show abnormalities within neurophysiological and in addition functional metabolic and structural imaging studies
In general a better clinical and neurophysiological evaluation of asymptomatic compared to symptomatic mutation carriers and healthy controls across subgroups is warranted However the number of mutation carriers per subgroup is limited and some are unable to travel to Lübeck to participate in research To increase the participant size in addition to the examination in our neurophysiological laboratory the investigators want to visit and investigate some mutation carriers in their home environment with a mobile examination unit In this regard the transcranial magnetic stimulation paradigm of short-latency afferent inhibition SAI is of great interest as it can reliably capture the effects of sensory input median nerve stimulation on motor output MEP amplitude without complex neuronavigation Additionally a video-based clinical examination will be performed which will be rated offline in a blinded fashion by movement disorder specialists to correlate SAI with symptom severity
Therefore the proposed project will for the first time allow a direct comparison of sensorimotor integration deficits in correlation to clinical signs between three different monogenic Parkinson-dystonia syndromes Furthermore contrasting the findings between asymptomatic and symptomatic mutation carriers will help on the one hand to draw conclusions on potential protective markers and on the other hand to identify neurophysiological endophenotypes Furthermore successful completion of the project will generate clinically well-defined monogenic subgroups with particular sensorimotor abnormalities who can serve as model disorders in further research projects that aim to characterize sensorimotor deficit in a cognitive framework and in a longitudinal fashion
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None