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Clinical Trial Will Explore Genetic identification of Familial and Sporadic Amyotrophic Lateral Sclerosis

dna geneticsInvestigators at the Northwestern University Feinberg School of Medicine are currently enrolling participants for a clinical trial ( Identifier: NCT00821132), that aims to identify genes that increase risk for sporadic Amyotrophic Lateral Sclerosis (ALS) or cause inherited ALS.

The study, entitled “Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism,” led by Teepu Siddique, MD from the Division of Neuromuscular Medicine, seeks to improve ALS diagnosis, develop effective treatments to improve ALS symptoms, and possibly delay or prevent disease onset in individuals at risk for developing familial ALS (FALS).

To do this, the researchers are identifying the genes that increase risk for developing all types of ALS, which will expand the understanding of the pathways of molecular events that are involved in the disease.

The study began in January 1991, was first submitted to clinical in January 2009, and is estimated to be completed in December 2019. However, the study is enrolling patients only until December 2016, with researchers hoping to recruit a total of 15,000 subjects. Participants must be 18 years or older with a diagnosis of Amyotrophic Lateral Sclerosis or ALS and frontotemporal dementia. Furthermore, the researchers are recruiting selected ALS family members, normally brothers and sisters of an ALS patient and the patient’s parents. Participants can be from both genders and healthy volunteers can also take part.

Data collection involves blood samples (to provide the genetic material), 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).

The researchers are hoping that the identification of each gene will improve knowledge about different types of the disease. In addition to the identification of ALS genes, the researchers will continue to study families with SOD1-ALS to improve understanding of disease’s mechanism of action. The data linkage analysis will help identify the genes that cause FALS. Moreover, the researchers are conducting association analysis for sporadic ALS. Outcomes from these trials will shed new light on ALS molecular mechanisms and open the door for potential new therapeutics.

More information about the study and how to enroll can be found in the U.S. Clinical Trials website at

Posted by: Dr.Health

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