Scientists track how a single gene causes two brain diseases
NCT ID NCT01925196
First seen Jun 25, 2026 · Last updated Sep 17, 2026 · Updated 11 times
Summary
This study followed 50 adults with a C9ORF72 gene mutation that can cause ALS or frontotemporal dementia. Over three years, researchers measured changes in strength, thinking, memory, and behavior using brain scans, spinal fluid tests, and other assessments. The goal was to understand how symptoms evolve and find biomarkers that could help detect or track these diseases in the future.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could identify biomarkers to help detect or measure C9ORF72-related ALS and FTD, aiding future research.
- What could go wrong
- This is an observational study with only 50 participants, so findings may not apply to everyone. It does not test any treatment.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
50 people
The number who actually took part.
- Started
-
Sep 2013
- Lead sponsor
-
A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Participants with C9ORF72 mutation
- Ages
-
18 years and older
- Sex
-
Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: Patients will be included if they: * Are age 18 or older * Have a confirmed repeat expansion in the C9ORF72 gene EXCLUSION CRITERIA: Patients will be excluded if they * have other major neurological or medical diseases that may cause progressive weakness or cognitive dysfunction, such as structural brain or spinal cord disease, metabolic diseases, paraneoplastic syndromes, hereditary diseases, infectious diseases, peripheral neuropathy or radiculopathy or other significant neurological abnormalities. * require daytime ventilator support at the time of study entry * are unable to travel to NIH at the time of study entry * are unwilling to have follow-up visits * are unable to understand or decline to sign the Informed Consent at the time of study entry. Participants can remain in the study (with DPA consent and participant assent) if they lose consent capacity. * have pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) that exclude magnetic resonance imaging * have unstable medical conditions that, in the opinion of the investigators, prevent safe participation in this study. * are participating in experimental treatment trials at the time of study entry or plan such participation within 6 months of entry. Patients will not be excluded if they are receiving standard care medications for treatment of ALS and its symptoms, or are participating in non-treatment clinical research studies. Patients will be permitted to participate in experimental treatment trials after the 6 month follow-up visit. Patients with pacemakers or other implanted electrical devices, brain stimulators, dental implants, aneurysm clips (metal clips on the wall of a large artery), metallic prostheses (including metal pins and rods, heart valves, and cochlear implants), permanent eyeliner, implanted delivery pumps, or shrapnel fragments, metal fragments in the eye) will not be excluded but will not undergo magnetic resonance imaging or transcranial magnetic stimulation.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Amyotrophic lateral sclerosis are added.
Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Breathing device tested to slow lung decline in ALS
- Can hospital codes reliably track home ventilation in ALS?
- Can a synthetic compound be safe enough to test in ALS? early trial asks
- Can a cheap gout drug slow ALS? trial puts colchicine to the test
- Can donor gut bacteria reshape the immune system in ALS?
- Spinal injection drug targets genetic cause of ALS and dementia