Advertisement

Topics

The Pre-Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study

2014-08-27 03:45:04 | BioPortfolio

Summary

We aim to recruit unaffected (healthy) people from families with a known genetic mutation in which at least two relatives have been affected with ALS. Our goal is to identify factors, both genetic and environmental, which put people at risk for developing ALS in the future.

Description

Healthy people from familial ALS families with a known genetic mutation will be included in this study. We encourage people who know that they carry the mutation that affects their family as well as those who do not know their genetic status to contact us. Those who wish to participate and to learn the results of genetic testing, may do so after undergoing genetic counseling. It is also possible to participate without learning the results of genetic testing. Participants in the study will travel to Emory (at our expense) on an annual basis.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Amyotrophic Lateral Sclerosis

Location

Emory University
Atlanta
Georgia
United States
30322

Status

Recruiting

Source

Emory University

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:45:04-0400

Clinical Trials [1209 Associated Clinical Trials listed on BioPortfolio]

Therapeutic Treatment of Amyotrophic Lateral Sclerosis

The goal of this study is to investigate the safety and tolerability of allogeneic Wharton's jelly-derived mesenchymal stem cells administration in the individuals with diagnosed amyotroph...

Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen in Norway: A Validation Study

Cognitive impairment is present in about 30-50% of the patients with amyotrophic lateral sclerosis (ALS). Suitable screening tools are available, but none of these are evaluated in a Norwe...

Determinants of Disease Severity in Amyotrophic Lateral Sclerosis

OBJECTIVES: I. Determine specific clinical features, molecular abnormalities, and laboratory-based biological markers of free radical stress that are associated with amyotrophic lateral...

A Study in Patients With Amyotrophic Lateral Sclerosis (ALS)

The purpose of this study is to investigate the efficacy and confirm the safety of E0302 in patients with Amyotrophic Lateral Sclerosis (ALS) by assessing changes in scores of survival rat...

A Single-Ascending-Dose Study of GDC-0134 to Determine Initial Safety, Tolerability, and Pharmacokinetic Parameters in Patients With Amyotrophic Lateral Sclerosis

The purpose of this study is to evaluate the safety and pharmacokinetics of GDC-0134 in patients with Amyotrophic Lateral Sclerosis (ALS).

PubMed Articles [2567 Associated PubMed Articles listed on BioPortfolio]

Very late-onset amyotrophic lateral sclerosis in a Portuguese cohort.

Although amyotrophic lateral sclerosis (ALS) incidence has been stable among Western countries, population-ageing effect will probably increase the proportion of very-old ALS patients. We aim to study...

Neurofilament Subunit L Levels in the Cerebrospinal Fluid and Serum of Patients with Amyotrophic Lateral Sclerosis.

There are no reliable biomarkers that could evaluate the disease burden in amyotrophic lateral sclerosis (ALS).

Amyotrophic lateral sclerosis in Nordland county, Norway, 2000-2015: prevalence, incidence, and clinical features.

There are some indications of increasing incidence of amyotrophic lateral sclerosis (ALS). Awareness of cognitive impairment in ALS has increased in recent years. We describe the epidemiology and clin...

Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis.

The development of biomarkers for use in diagnosing, monitoring disease progression and analyzing therapeutic trials response in amyotrophic lateral sclerosis (ALS) is essential.

Alterations in the stomatognathic system due to amyotrophic lateral sclerosis.

To compare the molar bite force, electromyographic activity, chewing efficiency and thickness of the masseter and temporalis muscles in individuals with amyotrophic lateral sclerosis (ALS) and healthy...

Medical and Biotech [MESH] Definitions

A glutamate antagonist (RECEPTORS, GLUTAMATE) used as an anticonvulsant (ANTICONVULSANTS) and to prolong the survival of patients with AMYOTROPHIC LATERAL SCLEROSIS.

A superoxide dismutase (SOD1) that requires copper and zinc ions for its activity to destroy SUPEROXIDE FREE RADICALS within the CYTOPLASM. Mutations in the SOD1 gene are associated with AMYOTROPHIC LATERAL SCLEROSIS-1.

Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)

A Poly(A) RNA-binding protein that negatively regulates EGFR ENDOCYTOSIS. An increased risk for developing AMYOTROPHIC LATERAL SCLEROSIS 13 is observed in patients who have more than 23 CAG repeats in the ATXN2 gene coding sequence. Larger CAG expansions in the ATXN2 gene occur in SPINOCEREBELLAR ATAXIA 2 patients.

A widely-expressed protein of approximately 400 to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).

More From BioPortfolio on "The Pre-Familial Amyotrophic Lateral Sclerosis (Pre-fALS) Study"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topic

Nutrition
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...


Searches Linking to this Trial