Genetics of Familial and Sporadic ALS (ALS)
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT00821132 |
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Recruitment Status :
Completed
First Posted : January 13, 2009
Last Update Posted : January 26, 2023
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| Condition or disease | Intervention/treatment |
|---|---|
| Amyotrophic Lateral Sclerosis (ALS) Familial Amyotrophic Lateral Sclerosis ALS With Frontotemporal Dementia (ALS/FTD) Lou Gehrig's Disease Motor Neuron Disease (MND) Primary Lateral Sclerosis (PLS) Sporadic ALS (SALS) | Other: Genetic study of ALS families |
The investigators' long term goals are to improve diagnosis and develop effective treatments that arrest or ameliorate symptoms of ALS, and possibly delay or prevent disease onset in individuals at risk for developing familial ALS (FALS). In order to do this one must understand how disease develops at a molecular level. Identification of genes that increase risk for developing all types of ALS will reveal the pathways of molecular events that are involved in ALS.
The investigators are collecting blood samples, family and medical histories of patients with all types of ALS, (familial and sporadic, with and without frontotemporal dementia, and primary lateral sclerosis and particular family members. Samples are coded to maintain confidentiality. Travel is not necessary.
As well as seeking to identify new genes implicated in ALS, the investigators continue our study of families with known genetic mutations to more fully characterize that disease mechanism.
Linkage analysis and affected relative pair analysis will be used to identify causative FALS genes and disequilibrium analysis and association studies are being done for sporadic ALS.
Results from these studies will provide insight into the underlying disease mechanisms of ALS and provide targets for therapeutic interventions.
| Study Type : | Observational |
| Actual Enrollment : | 13521 participants |
| Observational Model: | Family-Based |
| Time Perspective: | Other |
| Official Title: | Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism. |
| Actual Study Start Date : | January 1991 |
| Actual Primary Completion Date : | January 2023 |
| Actual Study Completion Date : | January 2023 |
| Group/Cohort | Intervention/treatment |
|---|---|
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ALS families
Patients with either inherited or sporadic ALS or PLS and selected family members
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Other: Genetic study of ALS families
Collection and analysis of genetic material, medical and family histories from families with ALS
Other Names:
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- Identification of genes that increase risk for sporadic ALS or cause inherited ALS. [ Time Frame: Dec 2025 ]Study of each identified gene will help us understand the molecular events that produce different types of ALS. This will aid in identification of markers that may be associated with each type which will assist with diagnosis and may provide targets for rational therapy.
Biospecimen Retention: Samples With DNA
Whole blood and/or skin and cerebrospinal fluid (CSF) samples
The investigators also collect brain and spinal cord tissue specimens.
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| Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Patients with Amyotrophic Lateral Sclerosis or ALS and frontotemporal dementia
- Selected family members, generally brothers and sisters of an ALS patient, the patient's parents
Exclusion Criteria:
- Under 18 years old
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00821132
| United States, Illinois | |
| Northwestern University Feinberg School of Medicine | |
| Chicago, Illinois, United States, 60611 | |
| Principal Investigator: | Teepu Siddique, MD | Northwestern University Feinberg School of Medicine |
Publications of Results:
Other Publications:
| Responsible Party: | Teepu Siddique, Director, Division of Neuromuscular Medicine, Northwestern University |
| ClinicalTrials.gov Identifier: | NCT00821132 |
| Other Study ID Numbers: |
Lab01 RO1N505641-04 ( Other Identifier: NINDS ) |
| First Posted: | January 13, 2009 Key Record Dates |
| Last Update Posted: | January 26, 2023 |
| Last Verified: | January 2023 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
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FALS ALS ALS/FTD |
SALS MND PLS |
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Amyotrophic Lateral Sclerosis Dementia Motor Neuron Disease Frontotemporal Dementia Aphasia, Primary Progressive Pick Disease of the Brain Sclerosis Pathologic Processes Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurocognitive Disorders Mental Disorders |
Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases TDP-43 Proteinopathies Proteostasis Deficiencies Metabolic Diseases Frontotemporal Lobar Degeneration Aphasia Speech Disorders Language Disorders Communication Disorders Neurobehavioral Manifestations Neurologic Manifestations |