Clinical Trials

 

An Observational Study to Assess Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing

Study Type: Observational
Sponsors: National Institute of Neurological Disorders and Stroke (NINDS)
Participants: 315
Abstract

Background: 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).

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. ...

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Facilities
National Institutes of Health Clinical Center - Recruiting
Bethesda, United States of America
Contacts
Primary
Angela Kokkinis, R.N.
akokkinis@mail.cc.nih.gov
(301) 451-8146
Eligibilities
Sex: All
Minimum Age: 5
Healthy Volunteers: Accepts Healthy Volunteers
- INCLUSION CRITERIA:
ALS4 inclusion criteria:
- Age 5 or above
- Genetic diagnosis of ALS4 (heterozygous mutation in SETX)
- Able to communicate well with the investigator, to understand and comply with the requirements of the study
- Capacity to consent (adults) or assent (pediatric subjects) to the study
Disease control inclusion criteria:
- Age 5 or above
- Genetic diagnosis of RNA processing defect mutation (RNaseH1, RNaseH2, recessive mutations in SETX)
- Able to communicate well with the investigator, to understand and comply with the requirements of the study
- Capacity to consent (adults) or assent (pediatric subjects) to the study
Related, unaffected healthy control inclusion criteria:
- Age 5 or above
- Family history (first, second, or third degree relative) of RNA processing defect mutation (RNaseH1, RNaseH2, heterozygous or recessive mutations in SETX)
- Able to communicate well with the investigator, to understand and comply with the requirements of the study
- Capacity to consent (adults) or assent (pediatric subjects) to the study
Unrelated, healthy control inclusion criteria:
- Age 5 or above
- Able to communicate well with the investigator, to understand and comply with the requirements of the study
- Capacity to consent (adults) or assent (pediatric subjects) to the study
EXCLUSION CRITERIA:
ALS4 exclusion criteria:
- Patients with known claustrophobia, presence of pacemaker, ferromagnetic material in their body, or any other condition that would preclude MRI assessments
- Pregnancy
- Disease control exclusion criteria:
- -Pregnancy
- Related, unaffected healthy control exclusion criteria:
- Diagnosis of neuromuscular disease or weakness on physical examination
- Pregnancy
- Unrelated, healthy control exclusion criteria:
- Diagnosis of neuromuscular disease or weakness on physical examination
- Patients with known claustrophobia, presence of pacemaker, ferromagnetic material in their body, or any other condition that would preclude MRI assessments
- Pregnancy

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