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| Name | Class |
|---|---|
| Johns Hopkins University | OTHER |
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The goal of this clinical trial is to evaluate the tolerability and effectiveness of multiple treatments of an FDA-approved drug in those with Neurofibromatosis Type 1 (NF1) Cutaneous Neurofibromas (cNFs). The main questions it aims to answer are:
Will performing:
Researchers will compare treated tumors and control tumors to see if the treatment is effective.
Participants will:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Treated cutaneous neurofibromas (cNFs) | Active Comparator | Injection into up to 50 cutaneous Neurofibromas (for at total maximum of 10 mL injected) with Kybella (1% deoxycholic acid). |
|
| Control cutaneous neurofibromas (cNFs) | No Intervention | A complementary region of cNFs of similar characteristics to the treatment area in the same body region will be selected to serve as an untreated control group. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Kybella | Drug | Kybella is sterile 1% deoxycholic acid provided in a 2 mL single-use vial. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability] | Treatment will be considered tolerable if <40% of participants treated have a >grade 2 CTCAE v5 adverse event (AE). | 3 months after treatment |
| Measure | Description | Time Frame |
|---|---|---|
| Patient Reported Outcomes | Using questionnaires we will determine the patients' reported outcomes. Patient Global Assessment: Patient rates degree of change of treated and control cNFs on a scale from -3 (no change) to 3 (very large improvement). | Baseline, after treatment session #4, and at 3 months after final treatment. |
| Measure | Description | Time Frame |
|---|---|---|
| Biologic Effect/Histology | A subset of 2-6 cNFs from the treatment region will be assessed after the final treatment session. | 3 months after final treatment session. |
Inclusion Criteria:
Participant is an adult ≥18 years of age.
Participant has a diagnosis of NF1 based on germline genetic testing or by meeting ≥ 2 the following criteria:
Participant is seeking treatment for cNF.
Participant has ≥ 6 paired cNF that are visible and measure 2 mm or more in size. The target treatment area must be amenable to both deoxycholate injections and surveillance with digital and 3D photography. Preferred locations are trunk (back or chest), arms and legs.
Participant is able and willing to comply with all visit, treatment and evaluation schedules and requirements.
Participant is able to understand and provide written informed consent.
Participant has no known allergy to deoxycholate.
Participant has no concurrent injury or wound in the target area.
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Richard R Anderson, MD | Massachusetts General Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Wellman Center for Photomedicine | Boston | Massachusetts | 02114 | United States |
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| ID | Term |
|---|---|
| D009455 | Neurofibroma |
| D009456 | Neurofibromatosis 1 |
| ID | Term |
|---|---|
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
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| ID | Term |
|---|---|
| D003840 | Deoxycholic Acid |
| ID | Term |
|---|---|
| D002793 | Cholic Acids |
| D001647 | Bile Acids and Salts |
| D013256 | Steroids |
| D000072473 | Fused-Ring Compounds |
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| Clinician Reported Outcomes |
Using questionnaires we will determine the clinicians' reported outcomes. Physician Global Assessment: Clinician rates degree of change of treated and control cNFs on a scale from -3 (no change) to 3 (very large improvement). |
| Baseline, after treatment session #4, and at 3 months after final treatment. |
| VAS Pain Scale | Participants will be asked to rate their pain using a visual analog scale (0 to 10) at each treatment visit and 1 week post-treatment. | Baseline, after each treatment session, 1 week after each treatment session, and 3 months after final treatment. |
| Patient Satisfaction | Satisfaction with each treatment modality is rated from 1 (very unsatisfied) to 5 (very satisfied). | Baseline, after treatment session #4, and at 3 months after final treatment. |
| Rate of Healing | Measured clinically via photography completed by a member of the study team at baseline, and all in-person visits. | Baseline, 1 month, 2 months, 3 months, 4 months, 5 months, 6 months after baseline; 3 months after final treatment. |
| cNF Appearance (Height) | Clinically completed 2D photography and 3D Cherry Imaging. Change from baseline in height of cNFs. | Baseline, after treatment session #4, and at 3 months after final treatment. |
| cNF Appearance (Volume) | Clinically completed 2D photography and 3D Cherry Imaging. Change from baseline in volume of cNFs. | Baseline, after treatment session #4, and at 3 months after final treatment. |
| D010524 |
| Peripheral Nervous System Neoplasms |
| D009423 | Nervous System Neoplasms |
| D009422 | Nervous System Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D017253 | Neurofibromatoses |
| D009386 | Neoplastic Syndromes, Hereditary |
| D020752 | Neurocutaneous Syndromes |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D011083 |
| Polycyclic Compounds |
| D002757 | Cholanes |