Collecting data and samples from ALS patients and their families

Clinical & Genetic Studies in ALS and Other Neurodegenerative Motor Neuron Disorders

This study is collecting blood samples and health information from people with ALS and their families to help researchers learn more about the genetic causes of the disease.

Quick facts

• Study type: Observational
• Enrollment: 3000 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Mayo Clinic (Academic / other)
• Locations: 1 site (Jacksonville, Florida)
• Trial ID: NCT05474235 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather clinical data and blood samples from patients diagnosed with sporadic and familial Amyotrophic Lateral Sclerosis (ALS) as well as their family members. The collected samples will be used to extract DNA, RNA, and prepare lymphocytes, plasma, and serum, establishing a repository for future research into the genetic factors contributing to ALS. Additionally, blood samples will be obtained from healthy control subjects with no personal or family history of ALS. The study seeks to enhance understanding of ALS pathogenesis through comprehensive data collection.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with ALS or suspected ALS, their blood relatives, and healthy controls without ALS history.

Not a fit: Patients with no familial connection to ALS and without a clinical suspicion of the disease may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to breakthroughs in understanding the genetic contributions to ALS, potentially improving diagnosis and treatment options.

How similar studies have performed: Other studies have shown promise in understanding ALS through genetic research, indicating that this approach is both relevant and potentially impactful.

Eligibility criteria

Inclusion Criteria

ALS or Suspected ALS Patient

* Clinical diagnosis of possible, laboratory-supported probable, probable or definite ALS according to modified EL Escorial criteria, suspected ALS according to original El Escorial criteria, or diagnosis of a neurodegenerative disorder with evidence of ALS plus extramotor features; OR
* Blood relative (first, second or third degree) with history of ALS or neurodegenerative disorder with evidence of ALS plus extramotor features; OR:

  * A clinical suspicion or referral for ALS;
  * \> 18 years of age;
  * Willing and able to give signed informed consent or assent that has been approved by the Institutional Review Board (IRB).

Blood Relative of ALS Patient

* Family history (first, second or third degree blood relative) of ALS or other motor neuron disease;
* \> 18 years of age;
* Willing and able to give signed informed consent that has been approved by the Institutional Review Board (IRB).

Healthy Control

* No personal or family history (first, second or third degree blood relative) of ALS or other motor neuron disease;
* \> 18 years of age;
* No personal history of other neurodegenerative disease (i.e., Alzheimer disease, Parkinson disease);
* Willing and able to give signed informed consent that has been approved by the Institutional Review Board (IRB).

Exclusion Criteria:

ALS or Suspected Patient • Limited mental capacity rendering the subject unable to provide written informed consent or assent or comply with standard phlebotomy procedures.

Blood Relative of ALS Patient

• Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.

Healthy Control Subject

* Personal or family history of dementia or other neurodegenerative disease (Parkinson disease, Alzheimer disease, etc.);
* Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.

Where this trial is running

Jacksonville, Florida

• Mayo Clinic Florida — Jacksonville, Florida, United States (Recruiting)

Study contacts

• Principal investigator: Bjorn Oskarsson, MD — Mayo Clinic

Conditions Amyotrophic Lateral Sclerosis