An Observational Study to Assess Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing
Study Purpose:
Amyotrophic lateral sclerosis type 4 (ALS4) is an inherited motor neuron disease. People with ALS4 have a change in the amount of RNA and DNA that bind together. This binding of RNA with DNA forms units called R-loops. Researchers want to learn how R-loops are related to ALS4. To do this, they will study people with inherited neurological conditions that may affect R-loop levels. These include ALS4, progressive external opthalmoplegia with mitochondrial deletions (PEOB2), Aicardi-Goutieres syndrome (AGS), and ataxia and oculomotor apraxia type 2 (AOA2).
Disease:
Familial ALSStudy Type:
Observational StudyStudy Category:
Biomarkers/ImagingStudy Status:
EnrollingPhase:
Not ApplicableStudy Chair(s)/Principal Investigator(s):
Christopher Grunseich, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
Clinicaltrials.gov ID (11 digit #):
NCT04394871Neals Affiliated?
NoCoordinating Center Contact Information
National Institutes of Health Clinical CenterAngela Kokkinis, R.N. / .(JavaScript must be enabled to view this email address) / 301-451-8146
.(JavaScript must be enabled to view this email address) Bethesda, Maryland 20892 United States
Full Study Summary:
Objective:
To learn how the binding of RNA with DNA (R-loops) is related to neurological disease.
Eligibility:
People age 5 and older with ALS4, PEOB2, AGS, and AOA2. Healthy relatives and nonrelatives are also needed.
Design:
Participants may be screened with a review of x-rays and other medical records.
Healthy relative and nonrelative participants will have 1 visit. All other participants will have 4 visits over 3 years.
At visits, participants will undergo some or all of the following:
Medical history
Physical exam
Tests of muscle strength and volume and physical function
Blood tests
Pregnancy test (for some females)
Skin biopsy of forearm
Magnetic resonance imaging (MRI)
Dual x-ray absorptiometry (DEXA).
Some tests are optional.
The MRI uses a magnetic field and radio waves to take pictures. Participants will lie on a table that slides in and out of the scanner. The scanner makes noise. They will get earplugs.
The DEXA scan uses x-rays to take pictures.
MRI and DEXA will be used to measure muscle, fat, and lean body mass.