What side effects are associated with this type of intervention?

Lorazepam, a benzodiazepine used to treat Down Syndrome Regression Disorder, can cause side effects such as drowsiness, dizziness, tiredness, blurred vision, and unsteadiness. Long-term use may lead to dependence, tolerance, and withdrawal symptoms. Other treatments for DSRD, like intravenous immunoglobulin (IVIG) and tofacitinib, have their own side effects. IVIG can cause headaches, fever, chills, and allergic reactions, while tofacitinib may increase the risk of infections and certain cancers. It is important to discuss these potential side effects with a healthcare provider to determine the best treatment plan.

What prior FDA approvals exist?

There are no FDA-approved treatments specifically for Down Syndrome itself, but certain therapies are used to manage co-occurring conditions. For neuropsychiatric symptoms similar to those treated by Lorazepam, which enhances GABAergic activity, medications like benzodiazepines (e.g., Lorazepam) are sometimes used off-label. Additionally, therapies such as intravenous immunoglobulin (IVIG) and tofacitinib are being studied for their efficacy and safety in treating Down Syndrome Regression Disorder, a neuropsychiatric condition associated with Down Syndrome.

What other types of research exist?

Promising novel alternatives to Lorazepam for Down Syndrome patients in 2024 include intravenous immunoglobulin (IVIG) and tofacitinib. These therapies are currently being evaluated for their safety and efficacy in treating neuropsychiatric symptoms associated with Down Syndrome Regression Disorder (DSRD).

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Immunomodulator

Multiple Therapies for Down Syndrome Regression Disorder

Phase 2

Recruiting

Led By Joaquin Espinosa, PhD

Research Sponsored by University of Colorado, Denver

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Must agree to complete a washout of any medications intended to treat symptoms of DSRD or that may interfere with study interventions.

Be younger than 65 years old

Must not have

Pathogenic neuronal autoantibody positivity against established causes of autoimmune encephalopathy in CSF.

History of venous or arterial thrombosis.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline to 14 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing three treatments for Down Syndrome Regression Disorder (DSRD) in people with Down Syndrome. The treatments include a calming medication, an immune-boosting blood product, and a drug that reduces immune activity. The goal is to see which treatment is safest and most effective for managing severe symptoms.

Who is the study for?

This trial is for individuals aged 8-30 with Down Syndrome who may have Down Syndrome Regression Disorder (DSRD), which includes symptoms like catatonia and hallucinations. Participants must not be on certain medications, have specific health conditions like heart disease or severe infections, or a history of allergies to the study drugs.

What is being tested?

The trial tests the safety and effectiveness of lorazepam, intravenous immunoglobulin (IVIG), and tofacitinib in treating DSRD. Patients will be randomly assigned one of these treatments and monitored for their response.

What are the potential side effects?

Possible side effects include allergic reactions, increased risk of infection due to immune system suppression by IVIG or tofacitinib, drowsiness from lorazepam, as well as other individual-specific responses.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I agree to stop taking certain medications for my condition during the study.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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My tests show I have antibodies in my brain that could cause inflammation.

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I have had blood clots in my veins or arteries.

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I have had cancer before.

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I have not treated my underactive or overactive thyroid.

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I have had Moyamoya syndrome or a stroke.

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I do not have any significant ongoing or chronic viral infections like HIV or hepatitis.

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I have an ongoing or untreated bacterial infection.

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I have a history of acute narrow-angle glaucoma.

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I haven't used immunosuppressant drugs like adalimumab in the last 6 months.

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I haven't taken drugs like valproic acid in the last 4 weeks.

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I have previously used methotrexate, cyclophosphamide, or other chemotherapy drugs.

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I have had brain surgery before.

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I have heart problems that show symptoms.

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My kidney function is moderately or severely reduced.

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I weigh less than 40 kg.

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I have an IgA deficiency and antibodies against IgA.

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I have a genetic disorder along with my current condition.

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I haven't taken certain strong medications in the last 4 weeks.

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I haven't taken immunosuppressant drugs in the last 8 weeks.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline to 14 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline to 14 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline to 14 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Comparison of number and severity of all adverse events.

Secondary study objectives

Change in adaptive skills as measured by the VABS-3 domain level standard score.

Change in catatonia by overall score in BFCRS.

Change in expressive language as measured by total number of words used.

+4 more

Other study objectives

Change in behavior as measured by DBC-2 T-score.

Change in minutes of total sleep and longest sleep as measured by FitBit.

Change in one or more measures of overall cognitive ability.

+2 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

3Treatment groups

Experimental Treatment

Group I: TofacitinibExperimental Treatment1 Intervention

Tofacitinib will be administered as an oral pill at 5 mg twice daily over the 12-week study.

Group II: LorazepamExperimental Treatment1 Intervention

Participants will receive lorazepam as an oral pill three times daily for 12 weeks as well as titration doses for an additional 4 weeks (approximately).

Group III: Intravenous immunoglobulin (IVIG)Experimental Treatment1 Intervention

Participants will receive 4 doses of IVIG treatment over 12 weeks.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Lorazepam

2009

Completed Phase 4

~2560

Intravenous immunoglobulin (IVIG)

2004

Completed Phase 2

~130

Tofacitinib

2018

Completed Phase 4

~32260

0 / 20Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Common treatments for Down Syndrome, particularly for managing neuropsychiatric symptoms, include Lorazepam, which enhances GABAergic activity to produce a calming effect. This is crucial for patients with Down Syndrome Regression Disorder (DSRD) as it helps manage symptoms like catatonia and aggression. Other treatments like intravenous immunoglobulin (IVIG) modulate the immune system to reduce neuroinflammation, and tofacitinib inhibits Janus kinases to decrease inflammatory responses. These treatments are significant as they address both neuropsychiatric and inflammatory aspects, improving the overall quality of life for Down Syndrome patients.

Some pharmacological studies on the spastic mouse.Optimization of brain targeted gallic acid nanoparticles for improved antianxiety-like activity.A review of sleep-promoting medications used in pregnancy.