Phenotype, Genotype & Biomarkers in ALS and Related Disorders

The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Amyotrophic Lateral Sclerosis Brain Diseases Central Nervous System Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Frontotemporal Dementia Frontotemporal Lobar Degeneration Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Hereditary Spastic Paraplegia Heredodegenerative Disorders, Nervous System Mental Disorders Metabolic Diseases Motor Neuron Disease Multisystem Proteinopathy Muscular Atrophy, Spinal Nervous System Diseases Nervous System Malformations Neurocognitive Disorders Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Peripheral Nervous System Diseases Polyneuropathies Primary Lateral Sclerosis Progressive Muscular Atrophy Proteostasis Deficiencies Spastic Paraplegia, Hereditary Spinal Cord Diseases TDP-43 Proteinopathies

Sex eligibility

All sexes

Study type

Observational

Primary location

Eberhard Karls University of Tübingen, Tübingen, Germany

About this study

This study will recruit patients with ALS, ALS-FTD, PLS, HSP, and PMA, with a focus on incident cases. Patients with both familial and sporadic forms of these diseases will be enrolled and followed longitudinally using a standardized set of evaluations. Biological samples (blood, urine, CSF) will be collected from all study participants, and will be used for biomarker discovery and validation. Family members of affected individuals may also be enrolled and asked to contribute DNA and biological samples to aid genetic and biomarker discovery.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Member of at least one of the following categories:

Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial).
Family member of an enrolled affected individual.
Able and willing to comply with relevant procedures.

Exclusion criteria

Affected with end or late stage disease.
A condition or situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol. This includes (but is not limited to) neurological, psychological and/or medical conditions.

Treatment and study plan

Primary outcomes

Phenotypic correlates of genotype

Time frame: 24 months

Using longitudinally collected deep phenotypic data, this project aims to define the natural history (i.e. temporal rate of disease progression) of the motor and frontotemporal system (behavior, cognition and language) phenotypes of ALS and related disorders in patients with identifiable genetic mutations.
Genetic determinants of phenotype

Time frame: 24 months

By combining longitudinally collected deep phenotypic data with deep genetic data (e.g. whole exome or whole genome sequencing), this project aims to define genetic variants that are associated with identifiable phenotypic features in patients with ALS and related disorders.

Other outcomes

Biomarkers

Time frame: 24 months

Biomarkers relevant to therapeutic development

Sponsors and collaborators

Lead sponsor

University of Miami

Other

Collaborators

ALS Association
National Center for Advancing Translational Sciences (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
St. Jude Children's Research Hospital

Registry information

Important dates

Study start: 2015
Primary completion: 2031
Study completion: 2031
First posted: Dec 30, 2014
Registry last updated: Jun 15, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting