Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
If you have a rare condition:
- You have been diagnosed with, or are suspected to have, a condition affecting the brain or nervous system that has a genetic cause
- You are any age (from newborn to 99 years old)
If you are a parent or caregiver of someone with a rare condition:
- You have no history of any neurological (brain or nervous system) disorder
- You are over 18 years old
- You are the legal caregiver of someone diagnosed with a rare condition affecting brain development
Who may not be able to join:
For people with a rare condition:
- Anyone who is unwilling or unable to attend the required visits with the study team
For parents or caregivers:
- Anyone who is unwilling or unable to attend the required visits with the study team
- Anyone who has a history of a neurological (brain or nervous system) disorder
- Anyone under 18 years old
For anyone taking part in the skin biopsy (a small skin sample) portion of the study:
- Anyone with a condition known to cause poor wound healing
- Anyone who has had an allergic reaction to lidocaine (a common local numbing medication) in the past
- Anyone with a history of certain health conditions including skin infections (cellulitis), diabetes, poor circulation in the limbs, blood clots in the veins, or a non-injury-related amputation
- Anyone currently taking blood-thinning medication, or who has taken it within the last 6 months
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: W. David Arnold, MD, University of Missouri-Columbia
Phone: 573-882-6720
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders; Identify and validate biomarkers (genetic, imaging, and physiological) that correlate with disease severity and progression; Establish patient-derived and control cell lines (e.g., fibroblasts, induced pluripotent stem cells) to generate model systems for mechanistic studies and pre-clinical evaluation of potential therapies
Can't join this trial?
Data last synced from ClinicalTrials.gov: 27 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.