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Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1 (MISSION-1)

31 de agosto de 2026 actualizado por: University of Colorado, Denver
This protocol describes a phase 2, double-blind, randomized, placebo-controlled clinical trial for Janus kinase (JAK) inhibition in Down syndrome (DS). This trial will evaluate the safety and efficacy of a 6-month treatment with the JAK1/3 inhibitor tofacitinib in individuals ages 6-22 (inclusive) with DS. There will be two main arms for this study: a treatment arm and a placebo control arm. Participants will be randomized into the treatment or placebo arm. Those completing 6 months in the placebo arm may be eligible to participate in a cross-over, open-label extension arm to receive 6 months of tofacitinib treatment. Participants will be evaluated during a Screening visit to determine eligibility, complete a Baseline visit if eligible, and be monitored via safety clinical laboratories and in-person evaluations by study doctors at 1 month, 3 months (mid-point visit) and 6 months (endpoint visit). An interim analysis of safety will be completed by an independent Data and Safety Monitoring Board (DSMB) after 40 participants have completed 6 months of treatment or placebo (20 in each arm).

Descripción general del estudio

Estado

Reclutamiento

Condiciones

Descripción detallada

This is a phase 2 randomized, double-blind, placebo-controlled clinical trial for Janus kinase (JAK) inhibition in Down syndrome (DS). After successful enrollment, including informed consent and assessment of inclusion and exclusion criteria, participants will be enrolled and randomized into the treatment or placebo arms and complete identical activities over the course of 6 months.

Briefly, the study recruitment goal is 80 participants (n=40 per treatment and placebo arm) with up to 92 participants enrolled. Participants enrolled in the treatment arm will receive a 6-month treatment with the JAK1/3 inhibitor tofacitinib to define the safety and efficacy of this medicine relative to placebo.

Safety monitoring will be completed over the 6-month period through a combination of self-reporting, laboratory testing, and study doctor assessment. AEs will be annotated by the study team and classified per Common Terminology Criteria for Adverse Events (CTCAE 6.0).

Diverse metrics of neurodevelopment and overall health will be obtained at the Baseline visit, 3-month visit (midpoint) and 6-month visit (endpoint). The data obtained after 6 months of treatment or placebo will be used for all endpoint analyses.

Participants enrolled in the placebo arm will be eligible to continue in the trial for an additional 6 months of tofacitinib treatment in a cross-over, open-label extension arm. Data collected during the cross-over, open-label extension arm will not contribute to any of the primary endpoint analyses. Rather, the cross-over dataset will be used to complete exploratory analyses of longitudinal intra-individual variability while on placebo and tofacitinib. Activities during 6 months of treatment in the cross-over arm will be identical to the main treatment arm. The cross-over arm will also serve to incentivize participation by ensuring that all eligible participants will be able to receive the medicine at some point during the trial.

Tipo de estudio

Intervencionista

Inscripción (Estimado)

92

Fase

  • Fase 2

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Estudio Contacto

Copia de seguridad de contactos de estudio

Ubicaciones de estudio

    • Colorado
      • Aurora, Colorado, Estados Unidos, 80045
        • Reclutamiento
        • CU Anschutz, Children's Hospital Colorado
        • Contacto:
        • Contacto:
        • Investigador principal:
          • Joaquin M Espinosa, PhD
        • Investigador principal:
          • Jessica L Bloom, MD

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Niño
  • Adulto

Acepta Voluntarios Saludables

No

Descripción

Inclusion Criteria:

  1. Individuals with DS aged 6 years (inclusive) to 22 years (inclusive). All forms of DS will qualify, including complete trisomy 21, Robertsonian translocation trisomy 21, partial trisomy 21 (segmental duplication), and/or mosaic trisomy 21.
  2. Available parent(s) or guardian(s) legally able to sign the consent form and who can complete study materials as appropriate.
  3. Body weight is at least 10 kgs.

Exclusion Criteria:

  1. Prior treatment with a JAK inhibitor or with an investigational agent, device, or procedure within 21 days of enrollment.
  2. Current or planned use of a JAK inhibitor during the 6-month study period.
  3. Known allergies, hypersensitivity, or intolerance to tofacitinib.
  4. Active, uncontrolled, or life-threatening infection that at the determination of the treating physician would preclude safe use of tofacitinib.
  5. History of gastrointestinal perforation.
  6. Vaccination with live attenuated virus within six weeks of inclusion in the study or planned during the study.

    Note on vaccines: Participants not yet vaccinated for MMR-V should consider their timeline for MMR-V vaccination. Specifically, the study team recommends MMR-V vaccination as soon as possible and delay study start until 6 weeks after MMR-V vaccinations.

  7. Concomitant treatment with any of the following:

    1. Concomitant treatment with other immunosuppressants (e.g., methotrexate, azathioprine, tacrolimus, cyclosporine).
    2. Strong CYP3A4 inhibitors (e.g., ketoconazole).
    3. Strong CYP3A4 Inducers (e.g., rifampin).
    4. Moderate CYP3A4 inhibitor(s) with a strong CYP2C19 inhibitor(s) (e.g., fluconazole).
    5. Other supplements or medications that at the determination of the treating physician would preclude safe use of tofacitinib.
  8. Evidence of severe organ dysfunction, including significantly abnormal laboratory values or severe renal impairment, that at the determination of the treating physician would preclude safe administration of tofacitinib.
  9. Any history of leukemia, lymphoma, or unresolved transient myeloproliferative disorder.
  10. Any current, recurrent, or metastatic forms of cancer.
  11. Any cancer treatment within five years prior to study entry.
  12. Known personal history of thrombosis or bleeding disorder.
  13. History of tuberculosis, disseminated herpes zoster, disseminated herpes simplex, or recurrent localized herpes zoster.
  14. Intravenous antimicrobial therapy within 3 months of inclusion in the study.
  15. History of organ or bone marrow transplant.
  16. History of myocardial infarction or stroke.
  17. Evidence of lipid disorder, including but not limited to LDL > 190 mg/dL, per discretion of the treating physician.
  18. Participant received blood or plasma products within 30 days of the Baseline visit.
  19. Treatment with intravenous immunoglobulin (IVIG) within 8 weeks of the Baseline visit.
  20. Hospitalization longer than 6 months in the last year.
  21. History of neurological syndrome that in the opinion of the study doctors would inhibit successful participation in the study.
  22. Less than 6 weeks post-surgery at Baseline appointment.
  23. Total vision or hearing loss (with no corrective devices available).
  24. Participant must be able to attempt the neurodevelopment assessment battery at Baseline and caregiver must be able to complete proxy reports for neurodevelopmental assessments.
  25. Poor venous access not allowing repeated blood tests or non-compliance with venipuncture requirements.
  26. Participants may be excluded for other unforeseen reasons at the study doctor's discretion.
  27. Pregnancy or breastfeeding.
  28. Use of estrogen-containing oral contraceptives.

Plan de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

  • Propósito principal: Tratamiento
  • Asignación: Aleatorizado
  • Modelo Intervencionista: Asignación paralela
  • Enmascaramiento: Cuadruplicar

Armas e Intervenciones

Grupo de participantes/brazo
Intervención / Tratamiento
Comparador de placebos: Placebo arm
Participants in the placebo arm will complete the same study activities as the participants in the treatment arm. Placebo will be an oral solution to mimic the active product. At the end of 6 months of activities, unblinding will occur and if eligible, participants in the placebo arm may be offered to participate in the cross-over arm to undergo 6 months of treatment with tofacitinib in an open-label design.
The placebo will be compounded by Children's Hospital of Colorado Investigational Drug Services using commercially available syrup with added flavoring to mimic the active product.
Experimental: Treatment Arm
Participants enrolled in the treatment arm will receive a 6-month treatment with the JAK1/3 inhibitor tofacitinib to define the safety and efficacy of this medicine relative to placebo.
JAK1/3 inhibitor
Otros nombres:
  • XELJANZ
  • Tofacitinib

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Number and percentage of subjects experiencing treatment-emergent adverse events.
Periodo de tiempo: From screening to 1 month after end of treatment
Number, percentage, type, and severity of treatment-emergent adverse events (TEAEs) will be annotated over the 6-month period in the treatment arm and placebo arm.
From screening to 1 month after end of treatment
Change in Clinical Global Impressions (CGI) Scale - Improvement in Health (CGI-I-H)
Periodo de tiempo: Baseline, 6 months
The CGI-I scale, which ranges from 1 to 7, with 1 being "very much improved" and 7 being "very much worse" to assess changes in global health during the 6-month intervention period. Noteworthy, we will also collect the CGI-S score (severity) at each time point (baseline, 3 months - midpoint visit, and 6 months - endpoint visit). The CGI-I will be collected at 3 months and 6 months.
Baseline, 6 months
Change in Kaufman Brief Intelligence Test, 2nd Edition Revised (KBIT-2 Revised) - Verbal Intelligence
Periodo de tiempo: Baseline, 6 months
Verbal Intelligence score, made up of the Verbal Knowledge and Riddles subtest, is a standardized measure of verbal cognitive ability. Raw scores,will be employed. Increase in scores indicate improvement in verbal cognitive performance.
Baseline, 6 months
Change in Kaufman Brief Intelligence Test, 2nd Edition Revised (KBIT-2 Revised) - Nonverbal Intelligence
Periodo de tiempo: Baseline, 6 months
The KBIT-2 Revised Nonverbal Intelligence score is a standardized measure of nonverbal reasoning ability and is made up of the Matrices subtest. We will be using the raw score. Increase in scores indicate improvement in nonverbal cognitive performance.
Baseline, 6 months
Change in Leiter 3 - Attention Sustained subtest
Periodo de tiempo: Baseline, 6 months
The Leiter-3 Attention Sustained subtest is a measure of inhibitory control. The raw score, calculated as the correct number of targets minus errors made across four trials, will be used. Increase in scores indicate improvement.
Baseline, 6 months
Change in Vineland Adaptive Behavior Scales 3 (VABS-3) - Sum of Domain Raw Scores
Periodo de tiempo: Baseline, 6 months
The Vineland Adaptive Behavior Scales, Third Edition (VABS-3) assesses adaptive functioning across communication, daily living skills, socialization, and motor domains. Domain raw scores will be summed to produce a composite raw score. . Increase in scores indicate improvement in adaptive functioning.
Baseline, 6 months

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Change in Naturalistic Language Sample
Periodo de tiempo: Baseline, 6 months
This measure evaluates spontaneous expressive language narration. We will analyze total utterances and mean length of utterance.
Baseline, 6 months
Change in Peabody Picture Vocabulary Test, Fifth Edition (PPVT-5)
Periodo de tiempo: Baseline, 6 months

The Peabody Picture Vocabulary Test, Fifth Edition (PPVT-5) assesses receptive vocabulary. Growth Scale Values (GSV) are used to determine an individual's absolute progress over time and is sensitive to small changes . Increase in scores indicate improvement in receptive vocabulary ability.

A Naturalistic Language Sample will be utilized to measure spontaneous expressive language. We will analyze total utterances and mean length of utterance. Increase in scores indicate improvement in expressive language skills

Baseline, 6 months
Change in Developmental Behavior Checklist 2 (DBC-2) or Achenbach Child (or Adult) Behavior Checklist
Periodo de tiempo: Baseline, 6 months

The DBC-2 reports a statistically significant change in Developmental Behavioral Checklist-2 (DBC-2) T-scores within or between treatment arms. A decrease in score indicates improvement.

Or the Achenbach is a caregiver-report measure of maladaptive behavior. This is a standardized questionnaire with available score norms by chronological age resulting in T-scores. We will analyze change in the internalizing and externalizing T-scores.

Baseline, 6 months
Change in Social Responsiveness Scale 2 (SRS-2), School Age and Adult
Periodo de tiempo: Baseline, 6 months
The Social Responsiveness Scale, Second Edition (SRS-2) generates T-scores with a mean of 50 and a standard deviation of 10. . Increase in scores indicates greater severity of autism-related symptoms (worse outcome). Both total and social communication T-scores will be analyzed.
Baseline, 6 months
Change in Modified Corsi Test
Periodo de tiempo: Baseline, 6 months
The Modified Corsi Test assesses working memory. Scores are summed based on total performance across all trials. Increase in scores indicates improvement in working memory performance.
Baseline, 6 months
Change in Dimensional Change Card Sort test
Periodo de tiempo: Baseline, 6 months
The Dimensional Change Card Sort Test measures cognitive flexibility. The total number of correct post-switch responses will be calculated across the last two trials. Increase in scores indicates improvement in cognitive flexibility.
Baseline, 6 months
Change in Beery Visual Motor Integration Scales (Beery VMI)
Periodo de tiempo: Baseline, 6 months
The Beery VMI, assesses visual-motor integration skills. Increase in scores indicates improvement in visual-motor integration ability.
Baseline, 6 months
Change in Vineland Adaptive Behavior Scales, Third Edition (VABS-3) - Sum of Raw Scores
Periodo de tiempo: Baseline, 6 months
The Vineland-3 is composed of four domains: Communication, Daily Living Skills, Socialization, and Motor. Each domain score represents summed raw scores from subdomains. We will evaluate changes in the raw scores of the four domains.. Increase in scores indicate improvement of adaptive skills in communication, daily living skills, socialization, and motor skills.
Baseline, 6 months
Change in Composite Neurodevelopmental Improvement Scores
Periodo de tiempo: Baseline, 6 months
This composite score aggregates standardized changes across multiple assessments. Individual measures are transformed into standardized differences before averaging. The composite score is not bounded by a fixed range. Higher values indicate greater overall improvement in neurodevelopmental functioning
Baseline, 6 months
Change in Clinical Global Impression - Improvement in Neurodevelopment (CGI-I-ND)
Periodo de tiempo: Baseline, 6 months
This composite score aggregates standardized changes across multiple assessments. Individual measures are transformed into standardized differences before averaging. The composite score is not bounded by a fixed range. Higher values indicate greater overall improvement in neurodevelopmental functioning. CGI-I-ND is a scale to rate improvement.
Baseline, 6 months

Otras medidas de resultado

Medida de resultado
Medida Descripción
Periodo de tiempo
Change in Pediatric Quality of Life Inventory (PedsQL)
Periodo de tiempo: Baseline, 6 months
The Pediatric Quality of Life Inventory (PedsQL) produces scores ranging from 0 to 100. Scores indicate improvement in health-related quality of life.
Baseline, 6 months

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Investigadores

  • Investigador principal: Joaquin Espinosa, PhD, Linda Crnic Institute for Down Syndrome, CU Anschutz

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Actual)

28 de mayo de 2026

Finalización primaria (Estimado)

1 de agosto de 2030

Finalización del estudio (Estimado)

1 de agosto de 2030

Fechas de registro del estudio

Enviado por primera vez

13 de mayo de 2026

Primero enviado que cumplió con los criterios de control de calidad

13 de mayo de 2026

Publicado por primera vez (Actual)

20 de mayo de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

3 de septiembre de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

31 de agosto de 2026

Última verificación

1 de agosto de 2026

Más información

Términos relacionados con este estudio

Plan de datos de participantes individuales (IPD)

¿Planea compartir datos de participantes individuales (IPD)?

SÍ

Descripción del plan IPD

De-identified participant data will be made available for all primary outcome measures.

Marco de tiempo para compartir IPD

Data will be made available upon publication in a peer-reviewed journal.

Criterios de acceso compartido de IPD

Data access requests will be reviewed by the sponsor-investigator and collaborators.

Tipo de información de apoyo para compartir IPD

  • PROTOCOLO DE ESTUDIO
  • CIF
  • CÓDIGO_ANALÍTICO

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

Sí

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

producto fabricado y exportado desde los EE. UU.

No

Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .

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