Scientists hunt for clues to rare genetic disorders
NCT ID NCT06274164
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal is to better understand these conditions and develop tools to measure disease severity and treatment effects in future trials.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could identify reliable biomarkers to track disease progression and response to future treatments for RAI1-related disorders.
- What could go wrong
- This is an early observational study, not a treatment trial. It may not find stable biomarkers, and results may not apply to all patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 90 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Mar 2024
- Expected to finish
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May 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with RAI1-related disorders who are willing to participate in clinical, neurophysiological and molecular studies, will be enrolled, as well as healthy family controls. Subjects will have to travel to Texas Children's Hospital to complete study activities.
- Ages
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1 month to 80 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Patient group: * Patients who have RAI1-related disorder confirmed by genetic testing including karyotyping, fluorescence in situ hybridization (FISH), array Comparative Genomic Hybridization (aCGH), single nucleotide polymorphism (SNP) array and next generation sequencing performed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory. * Grossly intact hearing and vision as per parent report * Age between 1 month to 60 years old * Able to complete the study (i.e., travel to site and spend 1 day in Houston) * Caregiver with spoken and written English at a level adequate to give informed assent (consent on behalf of the patient) for participation. Control group: * Healthy family member, not having a RA1-related disorder * Age between 5 years to 80 years old Exclusion Criteria: * Patient group: * Contraindication for blood draw or skin biopsy as determined by the enrolling provider (e.g., bleeding diathesis) * Patients who are at high risk including ventilator/tracheostomy dependent, poorly controlled endocrine disorders, and unstable seizures (will be assessed by neurologist), end-stage renal disease. * Participation in any investigational treatment study Control group: • Patients who have RAI1-related disorder confirmed by genetic testing.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Texas Children's Hospital
RECRUITINGHouston, Texas, 77030, United States
More trials for these conditions
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