Not medical advice. This website is not medical advice, a diagnosis, a match to a trial, or a recommendation to join a study. Listings are plain-English rewrites of public ClinicalTrials.gov records. Whether a site is still enrolling, and whether you qualify, can only be confirmed by the study team and your clinician. Source registry: ClinicalTrials.gov. Editorial rules: methodology.
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RecruitingNot a traditional drug phaseobservationalRules rewrite

Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurolog…

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.

Official registry: https://clinicaltrials.gov/study/NCT04394871 · National Institute of Neurological Disorders and Stroke (NINDS) · enrollment listed as 330

What this phase means

This is an observational study. You are not assigned a new experimental drug. Researchers measure what already happens in your care or in daily life.

Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.

What the registry says happens

This listing is observational (StudyType). The registry does not assign a new experimental drug as the study intervention.

They plan to enroll about 330 people at Bethesda. Taking part typically means study visits and measurements plus check-ins.

Official title (unrewritten)

An Observational Study to Assess Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4, Other Inherited Neurological Disorders With RNA Processing Defects, and Other Neurological Diseases With a Gain of Function Mechanism.

Primary outcome (registry wording): Disease progression as measured by thigh muscle volume and other study measures

Who it is for (from inclusion criteria)

  • Ages 5 Years to 120 Years
  • ALS4 RNA metabolism who can join:
  • 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 who can join:
  • Genetic diagnosis of RNA processing defect mutation (RNaseH1, RNaseH2, recessive mutations in SETX)
  • Related, unaffected healthy control who can join:

Public study contact (from the registry)

Angela D Kokkinis, R.N.

(301) 451-8146

akokkinis@mail.cc.nih.gov

Published on ClinicalTrials.gov. Contact them as a possible participant. They decide eligibility.

Sites listed on ClinicalTrials.gov

1 listed

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FAQ about this NCT record

Is NCT04394871 still recruiting?

The sponsor posted status “Recruiting” on ClinicalTrials.gov at last ingest. Sites can pause independently. Confirm with the official record and the listed contact.

What phase is NCT04394871?

Not a traditional drug phase. Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.

Can PlainTrials tell me if I qualify for NCT04394871?

No. The inclusion and exclusion lists on this page are readable extracts of the public eligibility block. Only the study team can screen you.

How to read a ClinicalTrials.gov record · Questions to ask the coordinator · Glossary