Tuberous Sclerosis Complex — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Multifocal micronodular pneumocyte hyperplasia in the absence of tuberous sclerosis complex: A case report.
Chikasue Tomonori et al. — Radiology case reports (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41742906/
- 2.
Genkwanin enhances survival of rat random skin flap: promoting autophagic flux by modulation of AMPK/TSC2/mTOR signaling pathway through SIRT1.
Zhang Jian-Xiong et al. — Biochemical pharmacology (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41679662/
- 3.
Long-Term Impact of Cenobamate on Cognition, Adaptive Behavior, and Quality of Life in Patients with Tuberous Sclerosis Complex.
Operto Francesca Felicia et al. — Neurology and therapy (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41649764/
- 4.
Recent advances in understanding the pathogenesis, diagnosis, and treatment of tuberous sclerosis complex (TSC)-associated Lymphangioleiomyomatosis.
Gai Zhongchao et al. — Biochemical pharmacology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41519401/
- 5.
Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
Ambrosetti Irene et al. — American journal of medical genetics. Part A (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41486106/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Sapu003 in Advanced mTOR-sensitive Solid Tumors
Recruiting — Phase 1 — SAPU NANO (US) LLC
https://clinicaltrials.gov/study/NCT07369505
- 2.
Astroscape: A Study of Radiprodil on Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms in Patients With TSC or FCD Type II
Recruiting — Phase 1 — GRIN Therapeutics, Inc.
https://clinicaltrials.gov/study/NCT06392009
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Tuberous Sclerosis Complex
Tuberous sclerosis complex is a genetic condition that causes non-cancerous tumours to grow in the brain and other vital organs. It can affect the skin, kidneys, heart, and lungs. Treatments targeting the mTOR pathway have been an important advance.
Most Recent Research
Multifocal micronodular pneumocyte hyperplasia (MMPH) is rare in the absence of tuberous sclerosis complex (TSC). We report a genetically confirmed TSC-negative case in a 50-year-old male patient with numerous bilateral ill-defined ground-glass nodules found on chest computed tomography. The nodules were distributed predominantly in the upper and middle lung zones and showed a centrilobular distribution. The nodules measured 1-15 mm in diameter, and some abutted pleural surfaces. Because several nodules showed slight enlargement (1-2 mm) over 1 year, a diagnostic surgical biopsy was performed. Histopathology confirmed MMPH, showing a single layer of type II pneumocyte proliferation with intra-alveolar macrophages. This case demonstrates that extensive hyperplasia in MMPH can cause lesions to contact the interlobar or visceral pleura, which may be mistaken for lymphangitic spread on computed tomography, and highlights the importance of histopathological correlation to clarify imaging findings.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.