Status:
RECRUITING
Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Amyotrophic Lateral Sclerosis Type 4
Inherited Neurological Disorders of RNA Processing
Eligibility:
All Genders
5-120 years
Brief Summary
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 ...
Detailed Description
Objective: Amyotrophic lateral sclerosis type 4 (ALS4) is an inherited form of motor neuron disease caused by a gain of function mutation in the senataxin (SETX) gene. The main goal of this study wil...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- ALS4 RNA metabolism 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
- Gain of function inclusion criteria:
- Age 5 or above
- Genetic diagnosis of mutation resulting in a gain of function mechanism (for example, heterozygous mutations in SETX or heterozygous mutations in KCC3)
- Able to communicate well with the investigator, to understand and comply with the requirements of the studyCapacity to consent (adults) or assent (pediatric subjects) to the study
- Capacity to consent (adults) or assent (pediatric subjects) to the study
- EXCLUSION CRITERIA:
- ALS4 RNA metabolism exclusion criteria:
- Patients with known claustrophobia, presence of pacemaker, ferromagnetic material in their body, or any other condition that would preclude MRI assessments
- Pregnancy
- Note: An Adult RNA metabolism ALS4 Patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:
- PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
- INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
- History of a bleeding disorder
- Use of anticoagulants
- Disease control exclusion criteria:
- -Pregnancy
- Related, unaffected healthy control exclusion criteria:
- Diagnosis of neuromuscular disease or weakness on physical examination
- Pregnancy
- Note: An Adult Related, Unaffected Healthy Control who meets any of the following criteria will be excluded from the lumbar puncture procedure:
- PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
- INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
- History of a bleeding disorder
- Use of anticoagulants
- 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
- Note: An Adult Unrelated, Healthy Control who meets any of the following criteria will be excluded from the lumbar puncture procedure:
- PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
- INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
- History of a bleeding disorder
- Use of anticoagulants
- Gain of function exclusion criteria:
- Pregnancy
- Note: An Adult Gain of Function patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:
- PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
- INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
- History of a bleeding disorder
- Use of anticoagulants
Exclusion
Key Trial Info
Start Date :
December 14 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2030
Estimated Enrollment :
330 Patients enrolled
Trial Details
Trial ID
NCT04394871
Start Date
December 14 2020
End Date
December 31 2030
Last Update
November 28 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892