RecruitingNot Applicable

Longitudinal Study of Neurogenetic Disorders

United States1,000 participantsStarted 2018-06-13

Plain-language summary

The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Individuals must have had whole genome/exome sequencing and have a confirmed variant in any gene. Exclusion Criteria: * Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Medical abnormalities associated with genetic variants

Timeframe: 5 years

Education-based impairments associated with genetic variants

Timeframe: 5 years

Repetitive Behavior

Timeframe: 5 years

Sleep Habits

Timeframe: 5 years

Sensory Issues

Timeframe: 5 years

Social Interaction and Communication SRS-II Score

Timeframe: 5 years

Anxiety

Timeframe: 5 years

Receptive Language Skills

Timeframe: 5 years

Trial details

NCT IDNCT03492060

SponsorColumbia University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-12

Contact for this trial

Jennifer M. Bain, MD, PhD

646-426-3876 jb3634@cumc.columbia.edu

View on ClinicalTrials.gov More Neurodevelopmental Disorders trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Medical abnormalities associated with genetic variants

Timeframe: 5 years

Education-based impairments associated with genetic variants

Timeframe: 5 years

Repetitive Behavior

Timeframe: 5 years

Sleep Habits

Timeframe: 5 years

Sensory Issues

Timeframe: 5 years

Social Interaction and Communication SRS-II Score

Timeframe: 5 years

Anxiety

Timeframe: 5 years

Receptive Language Skills

Timeframe: 5 years