Neurofibromatosis 1
Conditions
Brief summary
This study will evaluate the tolerability and effectiveness of two treatments in Neurofibromatosis Type 1 Cutaneous Neurofibromas. These treatments are: Kybella and Asclera injection. Each patient will have a treatment and a control site.
Interventions
DRUGKybella
Injection into the cutaneous Neurofibromas lesion.
DRUGAsclera
Injection into the cutaneous Neurofibromas lesion.
Sponsors
Johns Hopkins University
Massachusetts General Hospital
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 85 Years
Healthy volunteers
No
Inclusion criteria
1. Adult males and females ≥18 years of age 2. Have a diagnosis of NF1 based on germline genetic testing or by meeting ≥ 2 the following criteria: 1. Family history of NF1 2. Six or more light brown (cafe-au-lait) spots on the skin 3. Presence of two or more neurofibromas of any type, or one or more plexiform neurofibromas 4. Freckling under the arms or in the groin area 5. Two or more pigmented, benign bumps on the eye's iris (Lisch nodules) 6. A distinctive bony lesion: dysplasia (abnormal growth) of the sphenoid bone behind the eye, or dysplasia of long bones, often in the lower leg 7. Tumor on the optic nerve that may interfere with vision 3. Patients must be seeking treatment for cNF 4. Patients must have ≥ 6 paired cNF per modality (3 treated and 3 untreated). cNF should be visible and measure between 2-8mm in size. These must be in areas amenable to treatment and surveillance with digital photography. 5. cNF must be located on the trunk, arms or legs of the patient 6. Able and willing to comply with all visit, treatment and evaluation schedules and requirements 7. Able to understand and provide written informed consent
Exclusion criteria
1. Patients who are undergoing other treatment modalities or investigational agents for their cNF lesions 2. Individuals who cannot give informed consent or adhere to study schedule 3. Actively tanning during the course of the study 4. Adverse reactions to compounds of any external agent (e.g., gels, lotions or anesthetic creams) required for use in the study, if no alternative to the said agent exists; 5. Known allergy to injectable anesthetics, polidocanol or deoxycholic acid 6. Those with acute thromboembolic diseases 7. Those with bleeding abnormalities or those who are currently being treated with antiplatelet or anticoagulant therapy 8. Those with dysphagia 9. Women who are pregnant 10. Any condition which, in the Investigator's opinion, would make it unsafe (for the participant or study personnel) to treat the participant as part of this research study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability] | 3 months after treatment | Device based treatment will be considered tolerable if \<40% of participants treated have a \>grade 2 adverse event (AE). A grade 2 AE is defined as an adverse event that requires treatment. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Treatment specific patient reported outcomes (PRO) | Baseline, 1 day after treatment, 1 week after treatment, 1 month after treatment, 2 months after treatment, 3 months after treatment, 6 months after treatment, 12 months after treatment | NRS11, modality specific satisfaction assessment |
| Clinician reported outcomes (ClinRO) | Baseline, 3 months after treatment, 6 months after treatment, 12 months after treatment | Clinician assessment of cNF via questionnaire. Physician rates degree of change of treated and control cNFs on a scale from -3 (no change) to 3 (very large improvement). |
| Modified SkinDex for cNF | Baseline, 3 months after treatment, 6 months after treatment, 12 months after treatment | Health-related quality of life measure. Asks how much participants have been bothered by cNFs over the past week from 0 (never bothered) to 5 (always bothered). |
Other
| Measure | Time frame | Description |
|---|---|---|
| cNF appearance | Baseline, 3 months after treatment, 6 months after treatment, and 12 months after treatment | Clinically completed 2D and 3D photography Cherry Imaging. |
| Biologic effect | 3 months after treatment | Degree of tissue necrosis on skin lesion biopsy at 3 months as assessed by review of area of necrosis in histology slides. |
| Rate of healing | Baseline, 3 months after treatment, 6 months after treatment, and 12 months after treatment | Measured clinically via photography completed by a member of the study team at baseline, 3-month, 6-month, and 12-month post-treatment. |
Countries
United States
Outcome results
None listed