Złośliwość guzowata
Zapobieganie i profilaktyka

Złośliwość guzowata (tuberous sclerosis complex, TSC) jest chorobą genetyczną wynikającą z mutacji w genach TSC1 lub TSC2, prowadzącą do dysregulacji szlaku mTOR. Profilaktyka pierwotna jest ograniczona, jednak kluczowe znaczenie ma poradnictwo genetyczne dla rodzin z obciążonym wywiadem oraz wczesna diagnostyka, w tym prenatalna, umożliwiająca wykrycie zmian takich jak rhabdomyoma serca. Regularne monitorowanie pacjentów, w tym badania MRI, ultrasonografia nerek oraz badania krwi i moczu, pozwala na wczesne wykrycie i leczenie guzów oraz innych powikłań, co zmniejsza ryzyko niewydolności narządów i powikłań zagrażających życiu. Lekooporność padaczki jest istotnym czynnikiem ryzyka rozwoju niepełnosprawności intelektualnej, co podkreśla znaczenie profilaktycznego leczenia przeciwpadaczkowego u niemowląt wysokiego ryzyka, zwłaszcza z zastosowaniem wigabatryny, która w badaniu EPISTOP zmniejszyła ryzyko padaczki (52% vs 84%, OR 0,21) i padaczki lekoopornej (28% vs 64%, OR 0,23), a także opóźnienia neurorozwojowego (25% vs 41%).

  1. Profilaktyka złośliwości guzowatej
    1. Poradnictwo genetyczne
    2. Wczesna diagnoza i regularne monitorowanie
  2. Prewencja padaczki w złośliwości guzowatej
    1. Profilaktyczne stosowanie wigabatryny
    2. Inhibitory mTOR w profilaktyce
  3. Efekty profilaktycznego podejścia do złośliwości guzowatej
    1. Inne badania kliniczne i kierunki na przyszłość
  4. Podsumowanie podejścia profilaktycznego
    1. Kolejne rozdziały

Profilaktyka złośliwości guzowatej

Złośliwość guzowata (tuberous sclerosis) to genetyczna choroba spowodowana mutacjami w genach TSC1 lub TSC2, prowadzącymi do dysregulacji szlaku sygnałowego mTOR (mechanistic target of rapamycin). Jako choroba o podłożu genetycznym, złośliwość guzowata nie może być całkowicie zapobiegana w sensie profilaktyki pierwotnej, jednak istnieją strategie mające na celu minimalizację jej objawów i zapobieganie powikłaniom.123

Poradnictwo genetyczne

Poradnictwo genetyczne stanowi istotny element profilaktyczny dla osób z obciążonym wywiadem rodzinnym. Jest szczególnie zalecane dla pacjentów, rodziców i członków rodzin z przypadkami złośliwości guzowatej, którzy planują posiadanie potomstwa.12 Poradnictwo genetyczne pomaga zrozumieć prawdopodobieństwo dziedziczenia choroby przez dziecko i ewentualne możliwości zmniejszenia tego ryzyka.12

Obecnie dostępne są badania genetyczne i analiza mutacji, a diagnoza prenatalna jest możliwa, jeśli wcześniej wykryto mutację u dotkniętego chorobą rodzica.1 Złośliwość guzowata może być diagnozowana prenatalnie poprzez wykrycie rhabdomyoma serca w badaniu ultrasonograficznym płodu, co umożliwia wczesną interwencję.23

Wczesna diagnoza i regularne monitorowanie

Wczesna diagnoza złośliwości guzowatej może pomóc zapobiec niektórym powikłaniom choroby.1 Regularne monitorowanie jest kluczowe dla skutecznego zarządzania chorobą, ponieważ objawy mogą rozwijać się z czasem. Zalecany jest harmonogram regularnych wizyt u specjalistów w celu wczesnego wykrywania i rozwiązywania problemów, co zapobiega powikłaniom.1

Wytyczne dotyczące opieki nad pacjentami ze złośliwością guzowatą obejmują regularne badania w poszukiwaniu wczesnych oznak choroby w różnych częściach ciała. Zaleca się regularne obrazowanie metodą rezonansu magnetycznego (MRI), badania krwi i inne testy diagnostyczne.12 Wczesne wykrywanie zmian umożliwia pacjentom wybór wczesnego leczenia, co może chronić ich zdrowie.1

Zalecane jest również rutynowe wykonywanie badań obrazowych w celu wykrywania nowych guzów i monitorowania istniejących. Znajdujące się wcześnie guzy i leczenie ich przed osiągnięciem zbyt dużych rozmiarów może zmniejszyć ryzyko zagrażających życiu powikłań.1 Szczególnie istotne jest monitorowanie nerek poprzez rutynowe badania ultrasonograficzne oraz częste badania krwi i moczu w celu sprawdzenia ich funkcjonowania, co zmniejsza ryzyko niewydolności nerek i innych powikłań.2

Prewencja padaczki w złośliwości guzowatej

Lekooporność padaczki jest głównym czynnikiem ryzyka przyszłej niepełnosprawności intelektualnej u pacjentów ze złośliwością guzowatą.1 W ostatnich latach pojawiły się obiecujące strategie profilaktyczne w zapobieganiu padaczce u niemowląt z tą chorobą.

Profilaktyczne stosowanie wigabatryny

Badania wykazały, że profilaktyczne stosowanie wigabatryny, leku przeciwpadaczkowego, może pozytywnie zmieniać naturalny przebieg napadów padaczkowych u niemowląt ze złośliwością guzowatą.1 W ramach projektu EPISTOP, długoterminowego badania prospektywnego badającego kliniczne i molekularne biomarkery epileptogenezy, przeprowadzono randomizowane, wieloośrodkowe badanie oceniające skuteczność i bezpieczeństwo profilaktycznego leczenia wigabatryną.23

Kluczową różnicą między grupami leczonymi profilaktycznie a standardowo był moment rozpoczęcia leczenia, a nie rodzaj interwencji.1 Badanie pilotażowe z otwartą etykietą wykazało, że niemowlęta leczone wigabatryną w momencie pierwszego wykrycia wyładowań międzynapadowych w EEG, ale przed wystąpieniem klinicznych napadów, miały większe prawdopodobieństwo pozostania wolnymi od napadów w dwuletniej obserwacji niż niemowlęta, które otrzymały standardowe leczenie wigabatryną w momencie wystąpienia pierwszego napadu (93% vs 35%). Miały również niższą częstość występowania padaczki lekoopornej (7% vs 42%).2

Profilaktyczne leczenie wigabatryną zmniejszyło ryzyko padaczki (52% vs 84%, OR 0,21) i padaczki lekoopornej (28% vs 64%, OR 0,23) oraz zmniejszyło ryzyko opóźnienia neurorozwojowego (25% vs 41%).1 Badania prowadzone w Stanach Zjednoczonych, takie jak PREVeNT (Preventing Epilepsy Using Vigabatrin in Infants With Tuberous Sclerosis Complex), również wykazały, że napady zgięciowe niemowląt mogą być opóźnione lub nawet całkowicie zapobieżone.2

Celem profilaktycznego leczenia przeciwpadaczkowego jest nie tylko zapobieganie napadom, ale również poprawa długoterminowych wyników poznawczych. Badania wykazały, że profilaktyczne leczenie przeciwpadaczkowe u niemowląt ze złośliwością guzowatą poprawia długoterminową kontrolę padaczki i wyniki poznawcze w wieku szkolnym.1 Pacjenci, u których monitorowano zmiany EEG przed wystąpieniem napadów klinicznych i którzy otrzymali leczenie profilaktyczne, wykazali znacznie niższe ryzyko padaczki ogółem, a także napadów lekoopornych.12

Inhibitory mTOR w profilaktyce

Wiedząc, że złośliwość guzowata jest stanem genetycznym z objawami występującymi już w okresie prenatalnym oraz że inhibitory mTOR nie tylko mogą modyfikować przebieg choroby, ale są również bezpieczne i dobrze tolerowane u starszych dzieci i dorosłych, pojawiła się hipoteza, że leczenie inhibitorami mTOR przedstawia unikalną możliwość zapobiegania manifestacjom złośliwości guzowatej, zanim się one rozwiną.1

Jednym z takich inhibitorów mTOR jest sirolimus, zatwierdzony przez FDA (Food and Drug Administration) do leczenia LAM (lymphangioleiomyomatosis), postępującej choroby płuc występującej głównie u dorosłych kobiet ze złośliwością guzowatą, oraz jako miejscowe leczenie naczyniakowłókniaków twarzy związanych z tą chorobą.1

Badanie kliniczne fazy 1 jako pierwsze prospektywnie oceniło potencjał sirolimusu w zapobieganiu wystąpieniu napadów i progresji padaczki u niemowląt ze złośliwością guzowatą wysokiego ryzyka.2 Wyniki sugerują, że sirolimus jest zarówno bezpieczny, jak i dobrze tolerowany przez niemowlęta ze złośliwością guzowatą w pierwszym roku życia. Dodatkowo, wstępne prace sugerują korzystny profil skuteczności w porównaniu z wcześniejszymi kohortami pacjentów nienarażonych na wczesne leczenie sirolimusem.23

Obecnie prowadzone jest badanie kliniczne fazy 2 o nazwie TSC-STEPS (Sirolimus TS Epilepsy Prevention Study), które ocenia bezpieczeństwo i skuteczność wczesnego stosowania sirolimusu w zapobieganiu lub opóźnianiu wystąpienia napadów padaczkowych u niemowląt ze złośliwością guzowatą.12 Jest to część większego portfolio, nad którym pracują międzynarodowi współpracownicy oraz konsorcjum TSC, aby wykorzystać leki, które okazały się skuteczne w leczeniu złośliwości guzowatej i ścieżki mTOR, w sposób proaktywny, zapobiegawczy lub modyfikujący przebieg choroby.3

STOP2 (NCT04595513) będzie pierwszym badaniem, które naprawdę oceni ukierunkowaną terapię modyfikującą przebieg choroby w celu zapobiegania lub opóźnienia wystąpienia napadów padaczkowych w złośliwości guzowatej przy użyciu racjonalnego, opartego na mechanizmie podejścia terapeutycznego.1 W badaniu tym, gdy diagnoza złośliwości guzowatej zostanie potwierdzona, klinicznie lub genetycznie, oferowana jest możliwość uczestnictwa w badaniu klinicznym, w którym leczona jest ścieżka mTOR, integralna dla wielu aspektów, które idą nie tak w złośliwości guzowatej, w tym padaczki, trudności w uczeniu się, autyzmu i guzów.2

Fundamentalna różnica w TSC-STEPS polega na tym, że teraz nie leczy się objawu złośliwości guzowatej, ale samą złośliwość guzowatą.1 Oczekuje się, że pierwsze zmiany będą widoczne w padaczce, ale badacze mają nadzieję zobaczyć zmiany w wielu innych aspektach. Czy pacjenci będą mniej skłonni do rozwijania guzów nerek lub zmian skórnych? Czy będą mniej skłonni do autyzmu lub trudności w nauce?2

Efekty profilaktycznego podejścia do złośliwości guzowatej

Badania nad złośliwością guzowatą sugerują, że zapobieganie padaczce również zmniejszało ryzyko rozwoju encefalopatii padaczkowej i niepełnosprawności intelektualnej u dziecka.1 Stanowi to zmianę paradygmatu w zarządzaniu padaczką, przechodząc od leczenia objawowego do modyfikacji choroby.2

Odkrycia te mogą znacząco przyczynić się do zmiany praktyki klinicznej w przypadku złośliwości guzowatej.1 Publikacja wyników z projektu EPISTOP i podobnych badań budzi nadzieję na powszechne przyjęcie tego podejścia profilaktycznego w opiece nad niemowlętami ze złośliwością guzowatą.2

Wczesna inhibicja mTOR może również zapobiegać rozwojowi naczyniakowłókniaków twarzy, jak sugeruje opis przypadku jednojajowej bliźniaczki leczonej ogólnoustrojowo ewerolimusem z powodu SEGA (subependymal giant cell astrocytoma) od czwartego roku życia.1

Inne badania kliniczne i kierunki na przyszłość

Oprócz badań nad profilaktycznym stosowaniem inhibitorów mTOR i leków przeciwpadaczkowych, prowadzone są również inne badania koncentrujące się na różnych aspektach złośliwości guzowatej:

  • Badanie RAINBOW: w pełni zdalne badanie koncentrujące się na zrozumieniu i leczeniu problemów behawioralnych u małych dzieci ze złośliwością guzowatą. Badanie zwiększy wiedzę na temat rodzajów problemów behawioralnych, które pojawiają się w wieku przedszkolnym w złośliwości guzowatej, i najlepszych sposobów pomocy dzieciom i rodzinom doświadczającym tych problemów.1
  • Badanie charakteryzujące fenotyp rozwojowy ASD (autism spectrum disorder) i ID (intellectual disability) oraz identyfikujące biomarkery przy użyciu zaawansowanej metodologii MRI i elektrofizjologicznych biomarkerów funkcji synaptycznej i łączności predykcyjnej obecności i nasilenia ASD i ID u pacjentów ze złośliwością guzowatą.2
  • Badanie mające na celu wykazanie, że basimglurant (NOE-101) zapewnia skuteczną kontrolę napadów u dzieci, nastolatków i młodych dorosłych ze złośliwością guzowatą.3

Kongresowo Kierowany Program Badań Medycznych (Congressionally Directed Medical Research Programs) ma na celu poprawę strategii profilaktycznych i metod leczenia w celu zmniejszenia wpływu złośliwości guzowatej, dążąc jednocześnie do znalezienia lekarstwa.1

Podsumowanie podejścia profilaktycznego

Chociaż złośliwość guzowata jest choroba genetyczną, której nie można całkowicie zapobiec, istnieje kilka strategii profilaktycznych, które mogą znacząco zmniejszyć obciążenie chorobą:

  1. Poradnictwo genetyczne dla rodzin z przypadkami złośliwości guzowatej
  2. Wczesna diagnoza, w tym diagnoza prenatalna
  3. Regularne monitorowanie i nadzór w celu wczesnego wykrywania i leczenia objawów
  4. Profilaktyczne leczenie przeciwpadaczkowe u niemowląt wysokiego ryzyka
  5. Badania nad profilaktycznym stosowaniem inhibitorów mTOR (sirolimus, everolimus)

Cele leczenia obejmują: zarządzanie objawami, optymalizację jakości życia oraz zmniejszenie ryzyka zagrażających życiu powikłań.1 Przy wczesnym wykrywaniu i odpowiednim leczeniu, można znacząco poprawić jakość życia pacjentów ze złośliwością guzowatą i zmniejszyć obciążenie chorobą.1

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 12.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Genetics of Tuberous Sclerosis Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications
    https://emedicine.medscape.com/article/951002-followup
    Tuberous sclerosis complex cannot be prevented because it is inherited in an autosomal dominant pattern or arises from a spontaneous mutation. […] Genetic counseling is important for patients, parents, and family members who are considering having children. Genetic testing/mutational analysis is currently available and prenatal diagnosis is possible if a mutation in the affected parent has been detected.
  • #1 Tuberous Sclerosis: What It Is, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/17586-tuberous-sclerosis
    Theres no way to prevent TSC. Genetic counseling can help you understand the likelihood of your child inheriting this condition and what if anything you can do to make that less likely. Experts often recommend this counseling if you have a first-degree relative (a parent or sibling) who has TSC.
  • #1 Tuberous Sclerosis – Symptoms and Treatment | familydoctor.org
    https://familydoctor.org/condition/tuberous-sclerosis/
    Can tuberous sclerosis be prevented or avoided? […] There is no way to prevent or avoid tuberous sclerosis. If you have a family history of the disease and you want to have children, talk to your doctor. They may refer you to a genetic counselor or medical geneticist.
  • #1 Tuberous Sclerosis (TSC): Symptoms, Causes & Treatment – UChicago Medicine
    https://www.uchicagomedicine.org/conditions-services/neurology-neurosurgery/tuberous-sclerosis
    Because TSC can cause serious complications, it requires ongoing monitoring and management from specialists who understand the disease. […] Early diagnosis can help prevent some complications of TSC. […] When you come to UChicago Medicine, you will be seen by an expert team of different specialists who will work together to help prevent these problems.
  • #1 Tuberous sclerosis complex – Overview of Information and Clinical Research
    https://clinicaltrials.eu/disease/tuberous-sclerosis-complex/
    Regular monitoring is essential for managing TSC, as symptoms can develop over time. A schedule of regular appointments with healthcare providers is recommended to detect and address problems early, preventing complications. […] Early detection and ongoing monitoring are crucial for managing TSC effectively. Regular imaging scans, such as MRI, are recommended to detect new tumors or monitor existing ones. This practice often begins in childhood and continues throughout life, especially for those with more severe forms of TSC. Early intervention can help slow or halt the progression of the condition, improving the chances of leading a full and productive life. […] Regular monitoring through routine tests and screenings is essential to detect and address problems early, preventing complications.
  • #1 Tuberous sclerosis | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis
    There is no cure for tuberous sclerosis, but with regular surveillance the impacts of tuberous sclerosis can be minimised. […] Lifelong, regular surveillance can help to protect the health of people with TSC. […] Guidelines for TSC care include regular tests to look for early signs of TSC in different parts of the body. These include regular MRI scans, blood tests and other tests. […] Finding signs of TSC early offers the person with TSC options for early treatment. Appropriate treatment can protect the health of the person with TSC.
  • #1 Tuberous Sclerosis Causes, Symptoms, and Treatments
    https://www.upmc.com/services/kidney-disease/conditions/tuberous-sclerosis
    Tuberous sclerosis is a genetic condition and cant be prevented. It happens when parents pass a mutated gene to their child or when a gene mutation occurs spontaneously. Your doctor may recommend genetic counseling and testing if you have a parent or sibling with tuberous sclerosis. […] Treatment goals include: Managing symptoms. Optimizing quality of life. Reducing the risk of life-threatening complications. […] Your doctor may recommend routine imaging scans to find new tumors and monitor existing tumors. Finding tumors early and treating them before they become too large may reduce the risk of life-threatening complications. […] To reduce your risk of kidney failure and other complications, your doctor may recommend routine kidney ultrasounds and frequent blood and urine testing to check how well your kidneys are working.
  • #1 Preventive Antiepileptic Treatment in Tuberous Sclerosis Complex: A Long-Term, Prospective Trial – PubMed
    https://pubmed.ncbi.nlm.nih.gov/31481332/
    Drug-resistant epilepsy is the main risk factor for future intellectual disability in patients with tuberous sclerosis complex. […] We evaluated the neuropsychologic and epilepsy outcomes at school age in children with tuberous sclerosis complex who received preventive antiepileptic treatment in infancy. […] This study provides evidence that preventive antiepileptic treatment in infants with tuberous sclerosis complex improves long-term epilepsy control and cognitive outcome at school age. […] Prevention; Tuberous sclerosis complex.
  • #1
    https://www.healio.com/news/neurology/20201207/qa-preventive-treatment-in-tsc-leads-to-major-reduction-of-epilepsy-outcomes
    Findings published last month in Annals of Neurology demonstrated that preventive use of vigabatrin, an antiepileptic drug, positively altered the natural history of seizures in infants with tuberous sclerosis complex. […] Current guidelines recommend antiepileptic treatment after two unprovoked clinical seizures or after one seizure in patients at high risk (60%) for recurrent seizures. […] They conducted the study as part of the EPISTOP project, a long-term prospective study examining clinical and molecular biomarkers for epileptogenesis in a genetic model of epilepsy/TSC. […] Because of the development of tumors in the heart, TSC is commonly diagnosed prenatally or soon after birth, well before seizures, enabling a preventive treatment approach. […] EEG monitoring was recommended in 2011 for all infants with TSC in order to facilitate seizure identification as early as possible.
  • #1 OBM Genetics | Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndrome
    https://www.lidsen.com/journals/genetics/genetics-08-02-234
    Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. […] Recently, prevention of DRE and developmental encephalopathy was shown to be possible in TSC using early administration of vigabatrin. […] The crucial difference between the preventive and standard treatment groups was the timing of treatment initiation, not the type of the intervention. […] TSC can be diagnosed prenatally with fetal ultrasound detection of cardiac rhabdomyomata. […] A pilot open label study showed that infants treated with vigabatrin at the time of the first detection of EEG interictal epileptiform discharges, but before the onset of clinical seizures, were more likely to be seizure free at two year follow up than infants who received standard treatment of starting vigabatrin at the time of the first seizure (93% vs 35%), and had lower incidence of drug-resistant epilepsy (7% vs 42%).
  • #1 OBM Genetics | Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndrome
    https://www.lidsen.com/journals/genetics/genetics-08-02-234
    Preventive treatment with vigabatrin reduced the risk of epilepsy (52% vs 84%, OR 0.21) and of drug-resistant epilepsy (DRE) (28% vs 64%, OR 0.23), and reduced risk of neurodevelopmental delay (25% vs 41%). […] The long term follow up results off vigabatrin treatment in the EPISTOP study are pending. […] The TSC studies suggest that preventing epilepsy also reduced the risk of the child developing epileptic encephalopathy and intellectual disability. […] This represents a paradigm shift in epilepsy management from symptomatic treatment to disease modification. […] Given the existence of a remarkably effective treatment for Dravet, preventive therapy presents itself as a natural extension for its application. […] We hypothesize that early treatment of DS, after the first seizure, may similarly reduce the risk of refractory epilepsy and of cognitive slowing. […] If Dravet patients were diagnosed early, after the first seizure via standard multi-gene epilepsy panel, prevention with the highly effective disease specific treatments, such as fenfluramine, becomes feasible.
  • #1 Preventive Treatment in Tuberous Sclerosis Complex Lowers Risk for Refractory Epilepsy
    https://www.neurologylive.com/view/preventive-treatment-tuberous-sclerosis-complex-lowers-risk-for-refractory-epilepsy
    Patients whose EEG changes were monitored prior to onset of clinical seizures and who were given preventive therapy demonstrated a lower risk of epilepsy overall, especially drug-refractory. […] Preventive treatment with antiepileptic drugs in patients with tuberous sclerosis complex (TSC) may lower the risk of developing epilepsy, especially drug-resistant epilepsy, and may improve neuropsychological outcomes, according to interim results of 3 prospective, controlled studies focused on prevention of epilepsy in TSC. […] Across the board, benefits were seen with early EEG monitoring and preventive treatment of epilepsy in patients with TSC. Those who were monitored before the onset of clinical seizures and who were treated preventively demonstrated a significantly lower risk for epilepsy overall, as well as drug-resistant seizures. […] Overall, Antiepileptic treatment before the onset of clinical seizures improves prognosis in infants with TSC.
  • #1 Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11670424/
    Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC. […] These results suggest that sirolimus is both safe and well tolerated by infants with TSC in the first year of life. Additionally, the preliminary work suggests a favorable efficacy profile compared with previous TSC cohorts not exposed to early sirolimus treatment. Results support sirolimus being studied as preventive treatment in TSC, which is now underway in a prospective phase 2 clinical trial (TSC-STEPS). […] Knowing that TSC is a genetic condition with presenting signs as early as the prenatal period and that mTOR inhibitors not only can modify the disease but are also safe and well tolerated in older children and adults, we hypothesized that treatment with mTOR inhibitors would present a unique opportunity to prevent TSC manifestations before they develop.
  • #1 Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11670424/
    Before definitive clinical trials can be conducted to test our hypothesis that mTOR inhibitors during infancy can be used as preventive treatment, it is necessary to establish a minimum level of confidence that appropriate dosing levels that are safe and well tolerated in this population can be achieved and maintained. […] This phase 1 clinical trial is the first to prospectively evaluate the potential of an mTOR inhibitor, sirolimus, for preventing seizure onset and epilepsy progression in high-risk TSC infants. […] Our study utilized sirolimus, which is now approved by the Food and Drug Administration (FDA) for the treatment of LAM, a progressive lung disease occurring primarily in adult women with TSC, and as a topical treatment for TSC-associated facial angiofibromas. […] This work provides preliminary evidence that preventive sirolimus is both safe and tolerated in infants with TSC and consistent with previous retrospective studies with mTOR inhibitors in this population, while also being consistent with prospective clinical trials in older children and adults with TSC.
  • #1
    https://aesnet.org/abstractslisting/preventative-treatment-of-tuberous-sclerosis-complex-with-sirolimus-preliminary-safety-and-efficacy-results
    Tuberous Sclerosis Complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC disease but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC. […] These results show that sirolimus is both safe and well tolerated when treating infants with TSC preventatively in the first year of life. Additionally, the preliminary work suggests a favorable efficacy profile compared to previous TSC cohorts not exposed to early sirolimus treatment. Results support sirolimus being studied as preventative treatment in TSC, which is now underway in a prospective Phase 2 clinical trial (TSC-STEPS).
  • #1 Turning Dreams Into Reality: Preventing Tuberous Sclerosis Complex
    https://www.neurologylive.com/view/turning-dreams-into-reality-preventing-tuberous-sclerosis-complex
    Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 genes, resulting in dysregulation of the mechanistic target of rapamycin (mTOR) signaling pathway. A recently initiated study, dubbed STOP2 (NCT04595513), will be the first study to truly evaluate a targeted disease-modifying therapy for preventing or delaying seizure onset in TSC using a rational, mechanism-based therapeutic approach. […] STOPS2 stands for Sirolimus TS Epilepsy Prevention Study. Its a part of a larger portfolio that weve been working on with international collaborators as well as within the TSC consortium to use the drugs that have been shown to be effective in treating TSC and the mTOR pathway in a proactive, preventive, or disease-modifying fashion. […] As soon as the diagnosis of tuberous sclerosis is confirmed, either clinically or genetically, we offer the opportunity for those to participate in this clinical trial, where we will treat the mTOR pathway, which is integral to many of the aspect that go awry in tuberous sclerosis, including epilepsy, learning difficulties, autism, tumors, and ask ourselves, What happens if we start treating the disease from day 1?
  • #1 Turning Dreams Into Reality: Preventing Tuberous Sclerosis Complex
    https://www.neurologylive.com/view/turning-dreams-into-reality-preventing-tuberous-sclerosis-complex
    The fundamental difference for TSC Steps is that now were saying were not treating a symptom of tuberous sclerosis; were treating your tuberous sclerosis itself. […] Our expectation is that well first see the changes in epilepsy, but were also hoping to see changes in many other aspects. Are you less likely to develop kidney tumors or skin lesions? Are you less likely to have autism or learning difficulties? […] The key challenge is how to diagnose patients before they start to show symptoms. […] But theres also increased use of genetic approaches that are going to increasingly make that possible, but the key is once you can make a diagnosis, either clinically or genetically before the symptoms arise, the idea is yes, you should be able to target that with therapies.
  • #1
    https://www.healio.com/news/neurology/20201207/qa-preventive-treatment-in-tsc-leads-to-major-reduction-of-epilepsy-outcomes
    Therefore, we decided to perform a randomized, multicenter, blinded trial to assess the efficacy and safety of preventive vs. conventional treatment with vigabatrin in infants with TSC. […] Early treatment with vigabatrin at the time of an abnormal EEG, compared with no treatment at that time, led to a major reduction in clinical seizures, drug-resistant epilepsy and a severe form of epilepsy known as infantile spasms, without adverse events related to preventive treatment. […] The publication of results from the EPISTOP project could significantly contribute to a change of clinical practice for TSC. […] We hope that our results will lead to widespread adoption of this preventive approach for the care of infants with TSC.
  • #1 SciELO Brazil – Tuberous sclerosis complex: review based on new diagnostic criteria Tuberous sclerosis complex: review based on new diagnostic criteria
    https://www.scielo.br/j/abd/a/qvXj7GRvVrCX7FrXZKtSBRz/
    TSC treatment consists, above all, of the management of the symptoms caused by hamartomas and prophylactic measures to avoid loss of function of the affected organ. […] Current guidelines limit the use of oral mTORC1 inhibitors for the treatment of TSC cutaneous lesions for individuals that are not eligible to surgical approaches and whose skin lesions have a severe risk of recurrent and extensive hemorrhages. […] Early mTOR inhibition can prevent the development of facial angiofibromas, as suggested by a case report in a female monozygotic twin treated with systemic everolimus for SEGA since she was four years of age.
  • #1 UCLA Tuberous Sclerosis Clinical Trials for 2025 — Los Angeles
    https://ucla.clinicaltrials.researcherprofiles.org/tuberous-sclerosis
    This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. […] The RAINBOW study is a fully remote study focused on understanding and treating behavior problems in young children with tuberous sclerosis complex (TSC). […] This study will increase what is known about the types of behavior problems that come up during preschool age in TSC and how best to help children and families with TSC who are experiencing these problems. […] The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive of ASD and ID presence and severity in patients with TSC. […] The study intends to show that basimglurant (NOE-101) provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).
  • #1 Tuberous Sclerosis Complex Research Program, Congressionally Directed Medical Research Programs
    https://cdmrp.health.mil/tscrp/default
    Improve prevention strategies and treatments to lessen the impact of TSC while striving for a cure […] Improve prevention strategies and treatments to lessen the impact of TSC while striving for a cure.
  • #2 Turning Dreams Into Reality: Preventing Tuberous Sclerosis Complex
    https://www.neurologylive.com/view/turning-dreams-into-reality-preventing-tuberous-sclerosis-complex
    Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 genes, resulting in dysregulation of the mechanistic target of rapamycin (mTOR) signaling pathway. A recently initiated study, dubbed STOP2 (NCT04595513), will be the first study to truly evaluate a targeted disease-modifying therapy for preventing or delaying seizure onset in TSC using a rational, mechanism-based therapeutic approach. […] STOPS2 stands for Sirolimus TS Epilepsy Prevention Study. Its a part of a larger portfolio that weve been working on with international collaborators as well as within the TSC consortium to use the drugs that have been shown to be effective in treating TSC and the mTOR pathway in a proactive, preventive, or disease-modifying fashion. […] As soon as the diagnosis of tuberous sclerosis is confirmed, either clinically or genetically, we offer the opportunity for those to participate in this clinical trial, where we will treat the mTOR pathway, which is integral to many of the aspect that go awry in tuberous sclerosis, including epilepsy, learning difficulties, autism, tumors, and ask ourselves, What happens if we start treating the disease from day 1?
  • #2 Genetics of Tuberous Sclerosis Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications
    https://emedicine.medscape.com/article/951002-followup
    Tuberous sclerosis complex cannot be prevented because it is inherited in an autosomal dominant pattern or arises from a spontaneous mutation. […] Genetic counseling is important for patients, parents, and family members who are considering having children. Genetic testing/mutational analysis is currently available and prenatal diagnosis is possible if a mutation in the affected parent has been detected.
  • #2 Tuberous sclerosis | healthdirect
    https://www.healthdirect.gov.au/tuberous-sclerosis
    Can I prevent tuberous sclerosis? […] If someone in your family has tuberous sclerosis, and especially if you are planning a pregnancy, ask your doctor about genetic counselling.
  • #2 OBM Genetics | Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndrome
    https://www.lidsen.com/journals/genetics/genetics-08-02-234
    Tuberous sclerosis complex (TSC) is caused by mutations of hamartin (TSC1) or tuberin (TSC2) resulting in disinhibition of the mTOR pathway of cellular proliferation and differentiation and severe neurocognitive impairment, intractable epilepsy and tumors. […] Recently, prevention of DRE and developmental encephalopathy was shown to be possible in TSC using early administration of vigabatrin. […] The crucial difference between the preventive and standard treatment groups was the timing of treatment initiation, not the type of the intervention. […] TSC can be diagnosed prenatally with fetal ultrasound detection of cardiac rhabdomyomata. […] A pilot open label study showed that infants treated with vigabatrin at the time of the first detection of EEG interictal epileptiform discharges, but before the onset of clinical seizures, were more likely to be seizure free at two year follow up than infants who received standard treatment of starting vigabatrin at the time of the first seizure (93% vs 35%), and had lower incidence of drug-resistant epilepsy (7% vs 42%).
  • #2 Tuberous sclerosis complex – Overview of Information and Clinical Research
    https://clinicaltrials.eu/disease/tuberous-sclerosis-complex/
    Regular monitoring is essential for managing TSC, as symptoms can develop over time. A schedule of regular appointments with healthcare providers is recommended to detect and address problems early, preventing complications. […] Early detection and ongoing monitoring are crucial for managing TSC effectively. Regular imaging scans, such as MRI, are recommended to detect new tumors or monitor existing ones. This practice often begins in childhood and continues throughout life, especially for those with more severe forms of TSC. Early intervention can help slow or halt the progression of the condition, improving the chances of leading a full and productive life. […] Regular monitoring through routine tests and screenings is essential to detect and address problems early, preventing complications.
  • #2 Tuberous Sclerosis Causes, Symptoms, and Treatments
    https://www.upmc.com/services/kidney-disease/conditions/tuberous-sclerosis
    Tuberous sclerosis is a genetic condition and cant be prevented. It happens when parents pass a mutated gene to their child or when a gene mutation occurs spontaneously. Your doctor may recommend genetic counseling and testing if you have a parent or sibling with tuberous sclerosis. […] Treatment goals include: Managing symptoms. Optimizing quality of life. Reducing the risk of life-threatening complications. […] Your doctor may recommend routine imaging scans to find new tumors and monitor existing tumors. Finding tumors early and treating them before they become too large may reduce the risk of life-threatening complications. […] To reduce your risk of kidney failure and other complications, your doctor may recommend routine kidney ultrasounds and frequent blood and urine testing to check how well your kidneys are working.
  • #2
    https://www.healio.com/news/neurology/20201207/qa-preventive-treatment-in-tsc-leads-to-major-reduction-of-epilepsy-outcomes
    Findings published last month in Annals of Neurology demonstrated that preventive use of vigabatrin, an antiepileptic drug, positively altered the natural history of seizures in infants with tuberous sclerosis complex. […] Current guidelines recommend antiepileptic treatment after two unprovoked clinical seizures or after one seizure in patients at high risk (60%) for recurrent seizures. […] They conducted the study as part of the EPISTOP project, a long-term prospective study examining clinical and molecular biomarkers for epileptogenesis in a genetic model of epilepsy/TSC. […] Because of the development of tumors in the heart, TSC is commonly diagnosed prenatally or soon after birth, well before seizures, enabling a preventive treatment approach. […] EEG monitoring was recommended in 2011 for all infants with TSC in order to facilitate seizure identification as early as possible.
  • #2 Epilepsy Essentials: The Current and Future Landscape of Tuberous Sclerosis Complex Diagnosis and Treatment
    https://practicalneurology.com/articles/2024-aug/epilepsy-essentials-the-current-and-future-landscape-of-tuberous-sclerosis-complex-diagnosis-and-treatment
    In a 2020 prospective study, Kotulska et al found that treating infants with vigabatrin before they had clinical seizures resulted in fewer infantile spasms and fewer seizures overall, and, as participants aged, their epilepsy was easier to treat. […] In the United States, a similar clinical trial Preventing Epilepsy Using Vigabatrin in Infants With Tuberous Sclerosis Complex (PREVeNT, NCT02849457) was completed in 2023, similarly finding that infantile spasms could be delayed or even prevented from occurring.
  • #2 Preventive Treatment in Tuberous Sclerosis Complex Lowers Risk for Refractory Epilepsy
    https://www.neurologylive.com/view/preventive-treatment-tuberous-sclerosis-complex-lowers-risk-for-refractory-epilepsy
    Patients whose EEG changes were monitored prior to onset of clinical seizures and who were given preventive therapy demonstrated a lower risk of epilepsy overall, especially drug-refractory. […] Preventive treatment with antiepileptic drugs in patients with tuberous sclerosis complex (TSC) may lower the risk of developing epilepsy, especially drug-resistant epilepsy, and may improve neuropsychological outcomes, according to interim results of 3 prospective, controlled studies focused on prevention of epilepsy in TSC. […] Across the board, benefits were seen with early EEG monitoring and preventive treatment of epilepsy in patients with TSC. Those who were monitored before the onset of clinical seizures and who were treated preventively demonstrated a significantly lower risk for epilepsy overall, as well as drug-resistant seizures. […] Overall, Antiepileptic treatment before the onset of clinical seizures improves prognosis in infants with TSC.
  • #2 Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11670424/
    Before definitive clinical trials can be conducted to test our hypothesis that mTOR inhibitors during infancy can be used as preventive treatment, it is necessary to establish a minimum level of confidence that appropriate dosing levels that are safe and well tolerated in this population can be achieved and maintained. […] This phase 1 clinical trial is the first to prospectively evaluate the potential of an mTOR inhibitor, sirolimus, for preventing seizure onset and epilepsy progression in high-risk TSC infants. […] Our study utilized sirolimus, which is now approved by the Food and Drug Administration (FDA) for the treatment of LAM, a progressive lung disease occurring primarily in adult women with TSC, and as a topical treatment for TSC-associated facial angiofibromas. […] This work provides preliminary evidence that preventive sirolimus is both safe and tolerated in infants with TSC and consistent with previous retrospective studies with mTOR inhibitors in this population, while also being consistent with prospective clinical trials in older children and adults with TSC.
  • #2 Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results
    https://pmc.ncbi.nlm.nih.gov/articles/PMC11670424/
    Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC. […] These results suggest that sirolimus is both safe and well tolerated by infants with TSC in the first year of life. Additionally, the preliminary work suggests a favorable efficacy profile compared with previous TSC cohorts not exposed to early sirolimus treatment. Results support sirolimus being studied as preventive treatment in TSC, which is now underway in a prospective phase 2 clinical trial (TSC-STEPS). […] Knowing that TSC is a genetic condition with presenting signs as early as the prenatal period and that mTOR inhibitors not only can modify the disease but are also safe and well tolerated in older children and adults, we hypothesized that treatment with mTOR inhibitors would present a unique opportunity to prevent TSC manifestations before they develop.
  • #2 UCLA Tuberous Sclerosis Clinical Trials for 2025 — Los Angeles
    https://ucla.clinicaltrials.researcherprofiles.org/tuberous-sclerosis
    This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. […] The RAINBOW study is a fully remote study focused on understanding and treating behavior problems in young children with tuberous sclerosis complex (TSC). […] This study will increase what is known about the types of behavior problems that come up during preschool age in TSC and how best to help children and families with TSC who are experiencing these problems. […] The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive of ASD and ID presence and severity in patients with TSC. […] The study intends to show that basimglurant (NOE-101) provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).
  • #2 Turning Dreams Into Reality: Preventing Tuberous Sclerosis Complex
    https://www.neurologylive.com/view/turning-dreams-into-reality-preventing-tuberous-sclerosis-complex
    The fundamental difference for TSC Steps is that now were saying were not treating a symptom of tuberous sclerosis; were treating your tuberous sclerosis itself. […] Our expectation is that well first see the changes in epilepsy, but were also hoping to see changes in many other aspects. Are you less likely to develop kidney tumors or skin lesions? Are you less likely to have autism or learning difficulties? […] The key challenge is how to diagnose patients before they start to show symptoms. […] But theres also increased use of genetic approaches that are going to increasingly make that possible, but the key is once you can make a diagnosis, either clinically or genetically before the symptoms arise, the idea is yes, you should be able to target that with therapies.
  • #2 OBM Genetics | Prevention of Drug Resistant Epilepsy and Developmental Epileptic Encephalopathy: Preventative Vigabatrin Treatment in Tuberous Sclerosis Complex and the Case for Fenfluramine Treatment of Children with Newly Diagnosed Dravet Syndrome
    https://www.lidsen.com/journals/genetics/genetics-08-02-234
    Preventive treatment with vigabatrin reduced the risk of epilepsy (52% vs 84%, OR 0.21) and of drug-resistant epilepsy (DRE) (28% vs 64%, OR 0.23), and reduced risk of neurodevelopmental delay (25% vs 41%). […] The long term follow up results off vigabatrin treatment in the EPISTOP study are pending. […] The TSC studies suggest that preventing epilepsy also reduced the risk of the child developing epileptic encephalopathy and intellectual disability. […] This represents a paradigm shift in epilepsy management from symptomatic treatment to disease modification. […] Given the existence of a remarkably effective treatment for Dravet, preventive therapy presents itself as a natural extension for its application. […] We hypothesize that early treatment of DS, after the first seizure, may similarly reduce the risk of refractory epilepsy and of cognitive slowing. […] If Dravet patients were diagnosed early, after the first seizure via standard multi-gene epilepsy panel, prevention with the highly effective disease specific treatments, such as fenfluramine, becomes feasible.
  • #2
    https://www.healio.com/news/neurology/20201207/qa-preventive-treatment-in-tsc-leads-to-major-reduction-of-epilepsy-outcomes
    Therefore, we decided to perform a randomized, multicenter, blinded trial to assess the efficacy and safety of preventive vs. conventional treatment with vigabatrin in infants with TSC. […] Early treatment with vigabatrin at the time of an abnormal EEG, compared with no treatment at that time, led to a major reduction in clinical seizures, drug-resistant epilepsy and a severe form of epilepsy known as infantile spasms, without adverse events related to preventive treatment. […] The publication of results from the EPISTOP project could significantly contribute to a change of clinical practice for TSC. […] We hope that our results will lead to widespread adoption of this preventive approach for the care of infants with TSC.
  • #3 Tuberous Sclerosis Treatment in Delhi, India | Symptoms & Causes
    https://www.blkmaxhospital.com/our-specialities/centre-for-neurosciences/conditions-treatments/tuberous-sclerosis
    As the disease is genetically related, there is no primary prevention. […] In case of a family history of tuberous sclerosis, one must consult a genetic counsellor. They must also keep in contact with the doctor at all times to chart and understand the childs development.
  • #3
    https://www.healio.com/news/neurology/20201207/qa-preventive-treatment-in-tsc-leads-to-major-reduction-of-epilepsy-outcomes
    Findings published last month in Annals of Neurology demonstrated that preventive use of vigabatrin, an antiepileptic drug, positively altered the natural history of seizures in infants with tuberous sclerosis complex. […] Current guidelines recommend antiepileptic treatment after two unprovoked clinical seizures or after one seizure in patients at high risk (60%) for recurrent seizures. […] They conducted the study as part of the EPISTOP project, a long-term prospective study examining clinical and molecular biomarkers for epileptogenesis in a genetic model of epilepsy/TSC. […] Because of the development of tumors in the heart, TSC is commonly diagnosed prenatally or soon after birth, well before seizures, enabling a preventive treatment approach. […] EEG monitoring was recommended in 2011 for all infants with TSC in order to facilitate seizure identification as early as possible.
  • #3
    https://www.healio.com/news/neurology/20201207/qa-preventive-treatment-in-tsc-leads-to-major-reduction-of-epilepsy-outcomes
    Therefore, we decided to perform a randomized, multicenter, blinded trial to assess the efficacy and safety of preventive vs. conventional treatment with vigabatrin in infants with TSC. […] Early treatment with vigabatrin at the time of an abnormal EEG, compared with no treatment at that time, led to a major reduction in clinical seizures, drug-resistant epilepsy and a severe form of epilepsy known as infantile spasms, without adverse events related to preventive treatment. […] The publication of results from the EPISTOP project could significantly contribute to a change of clinical practice for TSC. […] We hope that our results will lead to widespread adoption of this preventive approach for the care of infants with TSC.
  • #3
    https://aesnet.org/abstractslisting/preventative-treatment-of-tuberous-sclerosis-complex-with-sirolimus-preliminary-safety-and-efficacy-results
    Tuberous Sclerosis Complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC disease but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC. […] These results show that sirolimus is both safe and well tolerated when treating infants with TSC preventatively in the first year of life. Additionally, the preliminary work suggests a favorable efficacy profile compared to previous TSC cohorts not exposed to early sirolimus treatment. Results support sirolimus being studied as preventative treatment in TSC, which is now underway in a prospective Phase 2 clinical trial (TSC-STEPS).
  • #3 Turning Dreams Into Reality: Preventing Tuberous Sclerosis Complex
    https://www.neurologylive.com/view/turning-dreams-into-reality-preventing-tuberous-sclerosis-complex
    Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 genes, resulting in dysregulation of the mechanistic target of rapamycin (mTOR) signaling pathway. A recently initiated study, dubbed STOP2 (NCT04595513), will be the first study to truly evaluate a targeted disease-modifying therapy for preventing or delaying seizure onset in TSC using a rational, mechanism-based therapeutic approach. […] STOPS2 stands for Sirolimus TS Epilepsy Prevention Study. Its a part of a larger portfolio that weve been working on with international collaborators as well as within the TSC consortium to use the drugs that have been shown to be effective in treating TSC and the mTOR pathway in a proactive, preventive, or disease-modifying fashion. […] As soon as the diagnosis of tuberous sclerosis is confirmed, either clinically or genetically, we offer the opportunity for those to participate in this clinical trial, where we will treat the mTOR pathway, which is integral to many of the aspect that go awry in tuberous sclerosis, including epilepsy, learning difficulties, autism, tumors, and ask ourselves, What happens if we start treating the disease from day 1?
  • #3 UCLA Tuberous Sclerosis Clinical Trials for 2025 — Los Angeles
    https://ucla.clinicaltrials.researcherprofiles.org/tuberous-sclerosis
    This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. […] The RAINBOW study is a fully remote study focused on understanding and treating behavior problems in young children with tuberous sclerosis complex (TSC). […] This study will increase what is known about the types of behavior problems that come up during preschool age in TSC and how best to help children and families with TSC who are experiencing these problems. […] The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive of ASD and ID presence and severity in patients with TSC. […] The study intends to show that basimglurant (NOE-101) provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).

Zobacz więcej

wigabatryna rezonans magnetyczny SEGA napad padaczkowy padaczka lekooporna inhibitor mTOR badanie genetyczne rhabdomyoma serca poradnictwo genetyczne naczyniakowłókniak twarzy sirolimus diagnoza prenatalna niepełnosprawność intelektualna lek przeciwpadaczkowy niewydolność nerek encefalopatia padaczkowa lekooporność padaczki złośliwość guzowata ewerolimus