Active — Not RecruitingPhase 2

Therapies for Down Syndrome Regression Disorder

United States66 participantsStarted 2023-06-29

Plain-language summary

Individuals with Down syndrome (DS) have an increased risk of numerous co-occurring conditions, including the neuropsychiatric condition known as Down Syndrome Regression Disorder (DSRD). A DSRD diagnosis often includes a sub-acute onset of catatonia, mutism, depersonalization, loss of ability to perform activities of daily living, hallucinations, delusions, and aggression and is most commonly observed in adolescents and young adults. The study evaluates the safety and efficacy of three currently prescribed therapies: lorazepam, intravenous immunoglobulin (IVIG) and tofacitinib.

Who can participate

Age range

8 Years – 30 Years

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 with DS between the ages of 8 and 30 years, inclusive. DS is broadly defined to include complete trisomy 21, Robertsonian translocation trisomy 21, partial trisomy 21 (segmental duplication), and mosaic trisomy 21. * Diagnosis of possible or probable DSRD per 2022 consensus guidelines. * Must agree to random treatment assignment. * Must agree to complete a washout of any medications intended to treat symptoms of DSRD or that may interfere with study interventions. * Must be able to present with a study partner or legal guardian at all study visits. Exclusion Criteria: General * Weight less than 40 kg. * Pregnant or breast feeding. * Past or current tobacco smoking. * Poor venous access not allowing repeated blood tests or non-compliance with venipuncture requirements. * Known allergies, hypersensitivity, or intolerance to lorazepam, IVIG, or tofacitinib. * Participants may be excluded for other unforeseen reasons or confounding reasons for DSRD symptoms at the study doctor's discretion. Co-occurring Conditions * Any co-occurring genetic disorder. * Active symptomatic cardiac disease. * Clinically significant chronic or active viral infection, including but not limited to HIV, hepatitis, CMV, EBV, HSV or untreated tuberculosis. * Untreated chronic or active bacterial infection. * Untreated hypothyroidism or hyperthyroidism. * History of disseminated herpes zoster, disseminated herpes simplex, or recurrent localized dermatomal herpes zost…

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

Comparison of number and severity of all adverse events.

Timeframe: Baseline to 14 weeks

Trial details

NCT IDNCT05662228

SponsorUniversity of Colorado, Denver

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2026-12

View on ClinicalTrials.gov More Down Syndrome trials