Last reviewed · How we verify
Tofacitinib for Immune Skin Conditions in Down Syndrome
Phase 2 trial testing Tofacitinib in Down Syndrome in 47 participants. Completed in 30 October 2024.
| Lead sponsor | University of Colorado, Denver |
|---|---|
| Phase | Phase 2 |
| Status | Completed |
| Study type | INTERVENTIONAL |
| Allocation | na |
| Design | single group |
| Masking | none |
| Primary purpose | treatment |
| Enrollment | 47 |
| Start date | 21 October 2020 |
| Primary completion | 30 October 2024 |
| Estimated completion | 30 October 2024 |
| Sites | 1 location across United States |
University of Colorado, Denver
Adults 12 to 50, any sex, with Down Syndrome or Alopecia Areata. Patients with the condition only — healthy volunteers not accepted.
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Safety as measured by the number of serious adverse events definitely related to tofacitinib treatment.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | 0 |
The Interferon Score is a composite molecular measure used to quantify activation of the interferon signaling pathway. Interferon Scores are calculated by summing standardized expression (i.e. (expression value - mean) / standard deviation) of a predefined panel of 16 interferon-stimulated genes, measured by RNA-sequencing of whole blood samples. The resulting composite value provides an integrated measure of interferon pathway activity, with higher scores indicating greater pathway activation. No clinical relevance threshold has been established.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -8.41 | -11.66 – -5.16 |
The IGA is used to assess overall changes in severity across five skin conditions (alopecia areata, atopic dermatitis, vitiligo, psoriasis and hidradenitis suppurativa) scored from 0 (clear) to 4 - 5 (very severe).
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -1.31 | -1.76 – -0.86 |
The DLQI is used to assess participant-reported impact of skin conditions on self-image, relationships, and daily activities. Possible total scores range from 0-30, with higher scores indicating a more impaired quality of life.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -2.88 | -3.75 – -2.01 |
The SALT is used to assess changes in degree and extent (area) of hair loss due to alopecia areata on the head. Each of four scalp sites (left side, right side, top and back) are weighted by overall contribution to scalp surface area and rated for percent involvement. Possible total scores range from 0-72, with higher scores indicating a larger affected area.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -28.10 | -39.27 – -16.92 |
The MSS is used to assess changes in areas affected by hidradenitis suppurativa. Each of seven sites (right/left axillae, right/left groin, right/left gluteal, other) are scored by number of lesions, distance between lesions, and presence of normal skin between lesions. Possible total scores range up from 0 with no maximum, with higher scores indicating a more severe involvement.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -19.56 | -32.19 – -6.94 |
The PASI is used to assess changes in extent (area) and severity of psoriasis. Each of four sites (head, upper limbs, trunk, and lower limbs) are weighted by overall contribution to body surface area and separately scored by degree of involvement and three additional parameters (erythema, induration and desquamation), each of which is graded on a severity scale of 0 (Not severe) to 4 (very severe). Possible total scores range from 0-72, with higher scores indicating a more severe involvement.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -7.3 | -28.90 – 14.30 |
The Cytokine Score is a composite molecular measure used to quantify inflammatory changes. Cytokine Scores are calculated by summing standardized abundance (i.e. (abundance value - mean) / standard deviation) of a predefined panel of four inflammatory cytokines, measured in plasma samples using the Meso Scale Discovery platform. The resulting composite value provides an integrated measure of inflammatory activity, with higher scores indicating a more inflammatory state. No clinical relevance threshold has been established.
| Group | Value | 95% CI |
|---|---|---|
| On Treatment | -2.15 | -2.81 – -1.49 |
Time frame: Baseline through 16 weeks.. Reporting threshold: 5%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.
| Reaction | System | On Treatment |
|---|---|---|
| Thromboembolic event | Vascular disorders | — |
| Reaction | System | On Treatment |
|---|---|---|
| Grade 1 Weight gain | Investigations | — |
| Grade 1 Cough | Respiratory, thoracic and mediastinal disorders | — |
| Grade 1 Rhinorrhea | Respiratory, thoracic and mediastinal disorders | — |
| Grade 1 Nasal congestion | Respiratory, thoracic and mediastinal disorders | — |
| Grade 1 Rash acneiform | Skin and subcutaneous tissue disorders | — |
| Grade 1 Vomiting | Gastrointestinal disorders | — |
| Grade 1 Fever | General disorders | — |
| Grade 1 Fatigue | General disorders | — |
| Grade 1 Diarrhea | Gastrointestinal disorders | — |
| Grade 1 Skin and subcutaneous tissue disorders | Skin and subcutaneous tissue disorders | — |
| Grade 1 Weight loss | Investigations | — |
| Grade 2 Cough | Respiratory, thoracic and mediastinal disorders | — |
| Grade 1 Infections and infestations - COVID-19 | Infections and infestations | — |
| Grade 1 Sore throat | Respiratory, thoracic and mediastinal disorders | — |
| Grade 2 Diarrhea | Gastrointestinal disorders | — |
| Grade 2 Skin and subcutaneous tissue disorders | Skin and subcutaneous tissue disorders | — |
| Grade 2 Weight gain | Investigations | — |
| Grade 2 Infections and infestations - COVID-19 | Infections and infestations | — |
| Grade 1 Skin infection | Infections and infestations | — |
| Grade 1 Headache | Nervous system disorders | — |
| Grade 2 Neutrophil count decreased | Investigations | — |
| Grade 1 Productive cough | Respiratory, thoracic and mediastinal disorders | — |
| Grade 1 Stomach pain | Gastrointestinal disorders | — |
Most-reported serious reactions: Thromboembolic event.
Data from ClinicalTrials.gov NCT04246372 adverse events section.
People with Down syndrome (DS) display widespread immune dysregulation, including several immune skin conditions. This study hypothesizes that pharmacological inhibition of the increased interferon (IFN) signaling seen in DS is safe and could improve associated skin conditions. The study evaluates the safety and efficacy treatment with Tofacitinib, an FDA-approved drug known to block IFN signaling, in adolescents and adults with DS and an autoimmune and/or autoinflammatory skin condition. Investigators will also measure the impact of interferon inhibition on a variety of molecular markers, as well as the cognitive abilities and quality of life of participants.
8 peer-reviewed publications reference this trial (live from Europe PMC):
Verify or expand the search:
Trials testing the same drug.
Currently open trials in the same condition.
Trials by the same sponsor.
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04246372.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing