Amyotrophic Lateral Sclerosis
Conditions
Keywords
Genetics, Amyotrophic Lateral Sclerosis, Neurology, Clinical genetics
Brief summary
The purpose of this study is to explore the genetic causes relevant for ALS development in Norway.
Detailed description
After being informed about the study and potential risks, all patients giving written informed consent will be asked to complete a small questionnaire regarding family history and have a blood sample withdrawn. Blood samples, questionnaires, clinical information and signed consent is send to Department of Medical Genetics, Telemark Hospital Trust were the genetic analysis is performed successively throughout the recruitment period. Patients can choose to have their genetic results returned in a diagnostic setting.
Interventions
OTHERObservation
Observation of genetic characteristics
Sponsors
Sykehuset Telemark
ALS Norge
Helse Sor-Ost
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
16 Years to 100 Years
Healthy volunteers
No
Inclusion criteria
* Probable or definite ALS * Eligible to consent
Exclusion criteria
\- not competent to give consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Gene frequency | 2020-2030 | Number of patients with disease causing mutations in high penetrant ALS genes |
| New ALS genes | 2024-2030 | Identify new ALS genes in the Norwegian ALS population |
| Genetic risk factors | 2022-2030 | Identify genetic risk factors for ALS in Norway. |
Countries
Norway
Contacts
CONTACTHelle Høyer
PRINCIPAL_INVESTIGATORHelle Høyer
Telemark Hospital Trust, Norway
Outcome results
None listed