Neurofibromatosis 1
Conditions
Brief summary
This study will evaluate the effectiveness of skin cooling in increasing tolerability of four treatments in Neurofibromatosis Type 1 Cutaneous Neurofibromas. These treatments are: a 980nm laser, a 755nm laser, radio-frequency injection, and a Kybella injection. Each patient will have a treatment and a control site..
Interventions
DRUGDeoxycholic Acid
Injection into the cutaneous Neurofibromas lesion.
DRUGPolidocanol
Injection into the cutaneous Neurofibromas lesion.
DEVICE1064nm Nd:YAG laser
Pulse laser at a wavelength of 1064nm to the cutaneous Neurofibromas lesion.
DEVICE755nm Alexandrite Laser
Pulse laser at a wavelength of 755nm to 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 80 Years
Healthy volunteers
No
Inclusion criteria
1. Adult ≥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 (3 to be treated and 3 untreated) that are 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. Individuals who cannot give informed consent or adhere to study schedule. 2. Actively tanning during the course of the study. 3. 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; 4. Known allergy to injectable anesthetics, deoxycholic acid or polidocanol. 5. Women who are pregnant. 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. 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 event that requires treatment. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Patient Report Outcomes | For the 12 months after treatment | Using questionnaires, we will determine the patients' reported outcomes. |
| Clinician Reported Outcomes | For the 12 months after treatment | Using questionnaires we will determine the clinicians' reported outcomes. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Rate of healing | Baseline, 3 months, 6 months, and 12 months, post-treatment | Measured by photography completed by member at medical team |
| cNF Appearance | Baseline, 3 months, 6 months, and 12 months, post-treatment | Measured via clinically completed 2D and 3D photography |
Countries
United States
Outcome results
None listed