NCT01031901

Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex and Neurofibromatosis 1

Completed Phase 1 Last updated 24 February 2012

What this trial tests

Phase 1 trial testing Skincerity in Tuberous Sclerosis in 52 participants. Completed in 1 June 2011.

Timeline

1 December 2009

Primary endpoint
1 February 2011

1 June 2011

Quick facts

Lead sponsor	The University of Texas Health Science Center, Houston
Phase	Phase 1
Status	Completed
Study type	INTERVENTIONAL
Allocation	randomized
Design	parallel
Masking	quadruple
Primary purpose	treatment
Enrollment	52
Start date	1 December 2009
Primary completion	1 February 2011
Estimated completion	1 June 2011
Sites	1 location across United States

Drugs / interventions tested

• Skincerity — full drug profile →
• Skincerity plus sirolimus/rapamycin — full drug profile →
• Skinercity plus sirolimus/rapamycin — full drug profile →

Conditions studied

• Tuberous Sclerosis — all drugs for Tuberous Sclerosis →
• Neurofibromatoses — all drugs for Neurofibromatoses →
• Angiofibroma — all drugs for Angiofibroma →
• Neurofibroma — all drugs for Neurofibroma →

Sponsor

The University of Texas Health Science Center, Houston

Who can join

13 and older, any sex, with Tuberous Sclerosis or Neurofibromatoses. Healthy volunteers can join.

What's being measured

Primary outcomes are the specific endpoints the trial is designed to prove or disprove.

• Rapamycin level
  Time frame: 6 months
• Complete blood count
  Time frame: 6 months
• Total cholesterol
  Time frame: 6 months
• Dermatologic sensitivity at site of application (pain, erythema, edema, pruritis)
  Time frame: 6 months

Sponsor's own description

This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1). Subjects will apply either a Polyvinylidene fluoride (PVDF) coating (Skincerity) containing rapamycin or the PVDF coating alone nightly to fibromatous lesions for a duration of six months.

The primary goal of this study is to evaluate the safety of the topical product in patients with TSC and NF1. The secondary goal of this study is to evaluate the effectiveness of the topical product for treatment of cutaneous fibromatous lesions.

Publications & conference data

5 peer-reviewed publications reference this trial (live from Europe PMC):

1. Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin.
   Koenig MK, Hebert AA, Roberson J, Samuels J, et al · · 2012 · cited 88× · PMID 22934754 · DOI 10.2165/11634580-000000000-00000
2. Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex.
   de Vries PJ. · · 2010 · cited 77× · PMID 20643380 · DOI 10.1016/j.nurt.2010.05.001
3. Perfect match: mTOR inhibitors and tuberous sclerosis complex.
   Luo C, Ye WR, Shi W, Yin P, et al · · 2022 · cited 52× · PMID 35246210 · DOI 10.1186/s13023-022-02266-0
4. Cutaneous neurofibromas in the genomics era: current understanding and open questions.
   Allaway RJ, Gosline SJC, La Rosa S, Knight P, et al · · 2018 · cited 28× · PMID 29695767 · DOI 10.1038/s41416-018-0073-2
5. Neurofibromatosis Type 1 and the Search for Effective Tumor Therapies Using High-Throughput Drug Screening.
   Bouley SJ, Housden BE, Walker JA. · · 2025 · PMID 41294711 · DOI 10.3390/curroncol32110649