Effective treatment of tuberous sclerosis: A Synthesis of Findings from 16 Studies

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Original Abstract of the Article

Major Research Findings

Tuberous sclerosis complex (TSC) is a genetic disorder that affects about 1 in 6000 people and is characterized by the development of tumors in many organs, including the skin and kidneys, and by a range of neurological and neuropsychiatric manifestations. 4

TSC is a genetic multisystem disorder associated with constitutive overactivation of the mammalian target of rapamycin (mTOR) pathway and is characterized by the development of benign tumors in various organs. 3

The treatment of TSC using mammalian target of rapamycin (mTOR) inhibitors is clinically promising. 10

mTOR inhibitors have proven to be effective in the targeted therapy of certain TSC-associated pathologies such as subependymal giant cell astrocytomas (SEGAs) and renal angiomyolipomas (AMLs). 3

Everolimus, an mTOR inhibitor, has been shown to be effective in the treatment of angiomyolipoma in patients with subependymal giant cell astrocytoma (SEGA) associated with TSC. 1

Everolimus has been shown to reduce the size and number of AMLs in patients with TSC. 6 , 9

Everolimus has been shown to reduce the size of skin lesions in patients with TSC. 6

Sirolimus has been shown to be effective in the treatment of renal angiomyolipoma in patients with TSC or sporadic lymphangioleiomyomatosis. 2

Topical sirolimus has shown promise in the treatment of facial angiofibromas in patients with TSC, with fewer side effects and less scarring compared to systemic treatment. 7 , 5 , 8 , 14

Topical rapamycin has also been shown to be effective in the treatment of facial angiofibromas in patients with TSC. 8

Cannabidiol (CBD) is a promising add-on treatment for drug-resistant seizures in TSC. 12

Epilepsy develops in 70 to 90% of children with TSC and is often resistant to medication. 11

Treatment Summary

mTOR inhibitors are used to treat a variety of symptoms in patients with TSC. Everolimus has been shown to be effective in the treatment of SEGA, AML, and skin lesions. 1 , 6 , 9

Sirolimus has been shown to be effective in the treatment of renal angiomyolipoma. 2

Topical sirolimus and topical rapamycin are effective treatments for facial angiofibromas in patients with TSC. 7 , 5 , 8 , 14

CBD is a promising add-on treatment for drug-resistant seizures in TSC. 12

Benefits and Risks

Benefit Summary

mTOR inhibitors have been shown to be effective in the treatment of a variety of conditions related to TSC. These medications can help reduce the size of tumors, decrease the frequency of seizures, and improve the appearance of skin lesions. 1 , 6 , 9 , 2 , 7 , 5 , 8 , 14 , 12

Risk Summary

mTOR inhibitors carry a risk of side effects. These side effects can include mouth sores, high blood sugar, and an increased risk of infection. 3

Comparison of Studies

Commonalities

These studies have shown that mTOR inhibitors are effective in the treatment of a variety of symptoms in patients with TSC. 1 , 6 , 9 , 2 , 7 , 5 , 8 , 14 , 12

Differences

These studies have used different mTOR inhibitors to treat different symptoms. 1 , 6 , 9 , 2 , 7 , 5 , 8 , 14 , 12

Consistency and Contradictions of the Results

These studies provide consistent evidence that mTOR inhibitors are effective in the treatment of patients with TSC. 1 , 6 , 9 , 2 , 7 , 5 , 8 , 14 , 12

Real-World Applications and Considerations

mTOR inhibitors offer promising treatment options for patients with TSC, but it is essential to discuss potential side effects with your doctor before starting treatment. 3

Limitations of Current Research

More research is needed on the long-term effects and safety of mTOR inhibitors. 3

Future Research Directions

More research is needed on the long-term effects and safety of mTOR inhibitors. 3

More research is needed on the optimal dosage and duration of treatment with mTOR inhibitors. 3

Research is needed to compare the effectiveness and safety of different mTOR inhibitors. 3

Conclusion

mTOR inhibitors are effective treatments for a variety of symptoms in patients with TSC. 1 , 6 , 9 , 2 , 7 , 5 , 8 , 14 , 12

These medications can help reduce the size of tumors, decrease the frequency of seizures, and improve the appearance of skin lesions. 1 , 6 , 9 , 2 , 7 , 5 , 8 , 14 , 12

However, mTOR inhibitors carry a risk of side effects, so it is important to discuss these with your doctor before starting treatment. 3

List of Treatments

mTOR inhibitors: Rapamycin, Everolimus, Sirolimus

Topical rapamycin

Topical sirolimus

Cannabidiol

Literature analysis of 16 papers
Positive Content
16
Neutral Content
0
Negative Content
0
Article Type
9
1
6
4
16
1.

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.

Author: KingswoodJ Chris, JozwiakSergiusz, BelousovaElena D, FrostMichael D, KupermanRachel A, BebinE Martina, KorfBruce R, FlaminiJ Robert, KohrmanMichael H, SparaganaSteven P, WuJoyce Y, BrechenmacherThomas, SteinKaren, BerkowitzNoah, BisslerJohn J, FranzDavid N

Everolimus
Angiomyolipoma
Tuberous sclerosis complex

This study explores the use of everolimus, a medication that blocks a specific cellular pathway (mTOR inhibitor), in treating a type of tumor (angiomyolipoma) in patients with tuberous sclerosis complex (TSC). The study specifically focuses on patients with TSC who also have a type of brain tumor (subependymal giant cell astrocytoma, SEGA).

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

2.

Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review.

Author: PengZhu-feng, YangLu, WangTing-ting, HanPing, LiuZhen-hua, WeiQiang

Shrink angiomyolipoma
Hyperlipidemia
Regrowth of angiomyolipoma
Respiratory infection
Skin lesions
Stomatitis

A systematic review of 94 patients with renal angiomyolipoma treated with sirolimus found that renal angiomyolipoma shrank during sirolimus therapy but tended to regrow after therapy was stopped. Sirolimus was generally effective and safe for treating renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. The most common side effects were stomatitis, respiratory infection, skin lesions, and hyperlipidemia.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

3.

Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review.

Author: SadowskiK, KotulskaK, SchwartzR A, JóźwiakS

mTOR inhibitors for TSC

Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-cancerous tumors in different parts of the body. Medications called mTOR inhibitors have been shown to be effective for treating specific tumors associated with TSC. This review examines research on whether these medications might have a broader effect on the disease itself, potentially improving outcomes for people with TSC.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

4.

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial.

Author: RandellElizabeth, McNamaraRachel, DaviesD Mark, Owen-JonesEleri, KirbyNigel, AngelLianna, DrewCheney, Cannings-JohnRebecca, SmalleyMichelle, SaxenaAnurag, McDermottEmer, StockwellLaura, de VriesPetrus J, HoodKerry, SampsonJulian R

TAND treatment

Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting 1 in 6,000 people, causing tumors in various organs and neurological problems. Most people with TSC experience TSC-associated neuropsychiatric disorders (TAND) that significantly impact their daily lives, education, work, and social interactions. Improved treatments for TAND could reduce the burden on patients, families, and the healthcare system.

Clinical Trial, Phase IIA Phase II trial is a trial that further evaluates the efficacy and safety of a new drug or treatment, whose safety has been confirmed to some extent in a Phase I trial, in a small number of patients.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

5.

Efficacy and Safety of Topical Sirolimus Therapy for Facial Angiofibromas in the Tuberous Sclerosis Complex : A Randomized Clinical Trial.

Author: Wataya-KanedaMari, NakamuraAyumi, TanakaMari, HayashiMisa, MatsumotoShoji, YamamotoKoji, KatayamaIchiro

Tumor size reduction
Skin dryness
Skin irritation
Tuberous sclerosis complex

Topical sirolimus gel is safe and effective for facial angiofibromas in tuberous sclerosis complex (TSC). The optimal concentration of sirolimus was 0.2%.

Clinical Trial, Phase IIA Phase II trial is a trial that further evaluates the efficacy and safety of a new drug or treatment, whose safety has been confirmed to some extent in a Phase I trial, in a small number of patients.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

6.

Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies.

Author: FranzD N, BuddeK, KingswoodJ C, BelousovaE, SparaganaS, de VriesP J, BerkowitzN, RidolfiA, BisslerJ J

Everolimus efficacy
TSC treatment

Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to grow in various organs, including the brain, kidneys, heart, and skin. Skin lesions are very common in TSC. Everolimus, a medication, is thought to be effective for treating these lesions because it targets the underlying cause of the disease.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.

Language : English

7.

Sirolimus Gel Treatment vs Placebo for Facial Angiofibromas in Patients With Tuberous Sclerosis Complex: A Randomized Clinical Trial.

Author: Wataya-KanedaMari, OhnoYuuki, FujitaYasuyuki, YokozekiHiroo, NiizekiHironori, OgaiMasaaki, FukaiKazuyoshi, NagaiHiroshi, YoshidaYuichi, HamadaIzumi, HioTaihei, ShimizuKenji, MurotaHiroyuki

Skin lesion treatment
TSC treatment

Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to grow in various organs, including the skin. Many people with TSC have facial growths (angiofibromas) that can be disfiguring. Because effective treatments that are less invasive than surgery or laser therapy have been lacking, many people have gone untreated.

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Multicenter StudyResearch conducted in collaboration with multiple research institutions. It aims to collect a wide range of data and obtain more generalizable results.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

8.

Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial.

Author: KoenigMary Kay, BellCynthia S, HebertAdelaide A, RobersonJoan, SamuelsJoshua A, SlopisJohn M, TatePatti, NorthrupHope,

Angiofibroma improvement
Safe treatment
Application site discomfort

Topical rapamycin was found to be effective and safe for the treatment of TSC-related facial angiofibromas. The preferred dose was 1% once daily.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Multicenter StudyResearch conducted in collaboration with multiple research institutions. It aims to collect a wide range of data and obtain more generalizable results.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, U.S. Gov't, Non-P.H.S.Research funding provided by US government agencies other than the Public Health Service.

Language : English

9.

Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2.

Author: BisslerJohn J, BuddeKlemens, SauterMatthias, FranzDavid N, ZonnenbergBernard A, FrostMichael D, BelousovaElena, BerkowitzNoah, RidolfiAntonia, Christopher KingswoodJ

Preserves renal function
Reduces angiomyolipoma volume
Proteinuria

Everolimus treatment does not appear to be nephrotoxic in patients with renal angiomyolipoma or subependymal giant cell astrocytoma associated with tuberous sclerosis complex.

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

10.

Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis.

Author: LiMin, ZhouYing, ChenChaoyang, YangTing, ZhouShuang, ChenShuqing, WuYe, CuiYimin

Reduced seizure frequency
Reduced tumor volume
Stomatitis

mTOR inhibitors effectively reduced tumor volume and seizure frequency in patients with tuberous sclerosis complex (TSC). While they are a good therapeutic choice, they may increase the risk of stomatitis, but not upper respiratory tract infections or nasopharyngitis.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Meta-AnalysisA statistical technique that integrates the results of multiple studies to draw more general conclusions about a particular issue.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.

Language : English

11.

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.

Author: KotulskaKatarzyna, KwiatkowskiDavid J, CuratoloPaolo, WeschkeBernhard, RineyKate, JansenFloor, FeuchtMartha, KrsekPavel, NabboutRima, JansenAnna C, WojdanKonrad, SijkoKamil, Głowacka-WalasJagoda, BorkowskaJulita, SadowskiKrzysztof, Domańska-PakiełaDorota, MoaveroRomina, HertzbergChristoph, HulshofHanna, SchollTheresa, BenovaBarbora, AronicaEleonora, de RidderJessie, LagaeLieven, JóźwiakSergiusz,

Reduced epilepsy severity

Epilepsy develops in a majority of children with tuberous sclerosis complex (TSC) and is often resistant to medication. The EPISTOP clinical trial aimed to compare preventive versus conventional antiepileptic treatment in infants with TSC.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

12.

Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.

Author: ThieleElizabeth A, BebinE Martina, BhathalHari, JansenFloor E, KotulskaKatarzyna, LawsonJohn A, O'CallaghanFinbar J, WongMichael, SahebkarFarhad, CheckettsDaniel, KnappertzVolker,

TSC seizure reduction
Diarrhea
Liver transaminase elevation
Somnolence

This double-blind, placebo-controlled trial of 224 patients with tuberous sclerosis complex (TSC) and medication-resistant epilepsy evaluated the efficacy and safety of cannabidiol (CBD) at doses of 25 mg/kg/day (CBD25) and 50 mg/kg/day (CBD50) compared to placebo. Both CBD25 and CBD50 significantly reduced TSC-associated seizures compared to placebo. The most common side effects were diarrhea and somnolence, which occurred more frequently in the CBD groups. CBD25 had a better safety profile than CBD50.

Clinical Trial, Phase IIIA Phase III trial is a trial that further rigorously verifies the efficacy and safety of a new drug or treatment, whose efficacy and safety have been confirmed in a Phase II trial, in a large number of patients, and evaluates whether it is superior to existing treatments.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Multicenter StudyResearch conducted in collaboration with multiple research institutions. It aims to collect a wide range of data and obtain more generalizable results.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

14.

Topical rapamycin in the treatment of facial angiofibromas in tuberous sclerosis: a systematic review based on evidence.

Author: Cortell FusterClara, Martínez GómezMaría Amparo, Cercós LletiAna Cristina, Climente MartíMónica

Effective treatment
Safe treatment

Topical rapamycin is effective and safe for the treatment of facial angiofibromas in tuberous sclerosis. Multiple studies demonstrated its efficacy, with the exception of 5 patients in one study. Long-term studies are needed to establish an evidence-based therapeutic protocol.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

15.

The role of neurosurgery in the management of tuberous sclerosis complex-associated epilepsy: a systematic review.

Author: NieJeffrey Z, KarrasConstantine L, TrybulaS Joy, TexakalidisPavlos, AldenTord D

TSC-associated epilepsy treatment

Tuberous sclerosis complex (TSC) is a genetic disorder that causes brain lesions, often leading to seizures. While medication is the first treatment, over half of people with TSC don't respond well and need surgery. This review will examine research on surgical treatments for seizures in people with TSC, focusing on the outcomes.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

16.

Everolimus as a therapeutic option in refractory epilepsy in children with tuberous sclerosis: a systematic review.

Author: MenezesCatarina Ester Gomes, SantosDébora Lopes Dos, NeryErick Santos, SerpaEvelin Duarte, MoraisLécio Aragão Souza, DutraLucas Santana, Portela FilhoMarcos Baruch, GoesJulieta Sobreira

TS treatment

Tuberous sclerosis (TS) is a genetic disorder that can cause seizures, which are often difficult to control. Everolimus, a medication that has been shown to be effective for other aspects of TS, may also be helpful for treating seizures that don't respond to standard treatment in people with TS.

Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Language : English

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