The ORCA (Observer-Reported Communication Ability) outcome measure

The ORCA (Observer-Reported Communication Ability) outcome measure

In 2018, FAST funded Dr. Bryce Reeve of Duke University to create a novel communication measurement tool as an outcome measure assessment of caregiver observations of a child’s ability for expressive communication in nonverbal patients with complex communication needs like Angelman syndrome (AS).  We are happy to announce that not only was Dr. Reeve successful in creating such a tool, but that it is being used by others in the Angelman space. This successful partnership and strong engagement with the Angelman community allowed the development of the Observer-Reported Communication Ability (ORCA) measure to be fast-tracked (<1.5 years from conception to having a measure). 

In a FAST survey among its Facebook members, 332 parents/caregivers indicated one of the most important improvements they wanted to see in their child with AS was changes in their communication. In response, FAST made improvements in communication ability one of the key markers for effectiveness of therapies to be tested in clinical trials. However, there lacked good quality parent/caregiver-reported measures of communication ability that would provide a reliable and valid assessment for individuals with AS. Recognizing this limitation, the FAST organization partnered with the Center for Health Measurement (CHM) at Duke University School of Medicine to design and evaluate a measure with the goal to use the measure in clinical trials to detect change in communication ability over time.

As a result, CHM, in collaboration with FAST, designed the Observer-Reported Communication Ability measure with direct feedback and involvement from the AS community. FAST funded the creation of the ORCA as part of our Angelman Biomarker and Outcome Measure Initiative (ABOM) efforts.  The purpose of the ABOM initiative is to create and/or identify biomarkers and outcome measures to be used in a pre-competitive spirit, non-proprietary manner across all parties’ interest in developing therapeutics for Angelman syndrome.  One of FAST’s goals in funding Dr. Reeve’s grant was to provide this valuable tool for researchers within the Angelman space, as well as for other disorders.

The ORCA measure includes 72 questions that capture various types of expressive, receptive, and pragmatic forms of communication and is able to place each individual with AS along a continuum of communication ability that allows for examination of their changes over time. The ORCA does not rely on speech, but allows gestures, vocalizations, and use of aids to capture communication ability. It takes about 15-20 minutes for a parent/caregiver to complete the measure independently without the help of a clinician or speech language pathologist.

The ORCA measure was designed following best practice recommendations by the U.S. Food and Drug Administration (FDA) and other organizations. First, the CHM team conducted in-depth interviews with both caregivers of individuals with AS and communication experts with experience working with individuals with AS to identify relevant types of communication behaviors. From these interviews, the CHM team learned of 22 communication concepts that were important to include on the ORCA measure such as seeking attention, requesting “more” of something (e.g., food), making choices, and greeting people. Second, the CHM team conducted additional interviews with caregivers of individuals with AS to make sure the questions included in ORCA were understandable and appropriate. Third, the CHM team collected responses to the ORCA questionnaire from 290 caregivers/parents of individuals with AS. With this data, the CHM was able to find strong evidence for both the reliability and validity of the ORCA measure to capture communication ability. All these steps are currently being written-up by the CHM team and FAST representatives and will be published in the scientific literature and shared with the FDA.

The ORCA measure is now being used in clinical trials and natural history studies for individuals with AS. Additionally, the CHM team is working to translate the English version of the ORCA into other languages so it may be used globally. Also, the ORCA measure may be used in other conditions/disorders that have significant communication deficits. 

Dr. Reeve is the Director for the Center for Health Measurement, as well as a Professor of Population Health Sciences and Pediatrics within the Duke University School of Medicine. Dr. Reeve is an internationally recognized psychometrician.  Dr. Reeve’s areas of expertise include developing patient-reported questionnaires using qualitative and quantitative methodologies and the integration of patient-reported data in research and healthcare delivery to inform decision-making. 

FAST Awards Drs. Silverman (UC-Davis) and Duis (Children’s Hospital Colorado) Grant to Study Gait as an Outcome Measure for Angelman Syndrome

FAST Awards Drs. Silverman (UC-Davis) and Duis (Children’s Hospital Colorado) Grant to Study Gait as an Outcome Measure for Angelman Syndrome

Movement disorders affect nearly all individuals with Angelman syndrome (AS), with the most common concerns being spasticity, ataxia (as observed in the majority of ambulatory individuals), tremor, and muscle weakness. Clinically, over time, individuals may develop a crouched gait which can cause a progressive decline in mobility.  Similar motor disorders are observed in Angelman syndrome rodent models; dysfunction on the rotarod and reduced activity have been consistently reported in AS rodents. Under this grant, this translational research will explore various aspects of gait across different age groups and will be assessed and compared from both a non-clinical (rodent) and clinical (human) perspective.

Current patient mobility tests such as the 6-minute walking test or the 4-stair climbing test are inaccurate, lack rigor and reproducibility because they are highly dependent on patient motivation at the time of assessment and are not granular enough to discover quality changes in gait over time. They represent a single time point evaluation in a controlled environment, where the patients must travel to be assessed. Functional assessments are often not representative of a skill set when a patient is in their own environment. In addition, there is associated anxiety in unfamiliar environments for both the patient and the caregiver. Knowing that an individual will perform most accurately in a familiar environment, utilizing a measure that can be applied in that setting is ideal.   

Current mobility tests in humans and rodents can be inaccurate, or not translatable; therefore, improved motor-based outcomes that can be assessed across species for gross motor skills, fine motor skills, and gait quality, require further dedicated research and resources. Drs. Duis and Silverman have narrowed down and developed several outcome assessments that can be utilized in parallel across both rodents and humans.  This grant focuses on various spatial and temporal aspects of gait as an outcome measure in both preclinical (rodent) and clinical (human) research models, and will assess how that changes across developmental ages.  

This study will test the production and accuracy of sensor-based technology in individuals with AS across all genetic subtypes (deletion, UPD, ICD, UBE3A mutation), as well as AS rodents in relationship to gross and fine motor markers. Dr. Duis will recruit 40 individuals with AS for the clinical half of the study.  Drs. Duis and Silverman will utilize cutting edge sensor-based technology such as DigiGATE, ActiMyo® (using wearable brace-anklets to collect a wide variety of motor metrics), gait laboratory assessments via treadmills and 3D motion, and Zeno walkway.   Drs. Silverman and Duis will also identify spatial and temporal parameters in the Ube3a mouse and the FAST Ube3a rat model.  The information developed through this grant will provide truly translational outcome measures to test therapeutics across age groups in both rodent and human, with the goal of expediating its utility for human clinical trials.

By increasing the number of relevant, innovative, in vivo functional outcome measures in our wheelhouse, we will create more opportunities for identifying and moving forward successful medical interventions where we have accurate ways to assess motor improvements over time.

FAST update on the impact of Covid-19

FAST update on the impact of Covid-19

While the world as we know it has changed, abruptly and dramatically, we at FAST want you to know that we are here and we continue to move forward in our mission to cure Angelman syndrome.

What COVID-19 precautions should parents of children with Angelman syndrome be taking?

Although individuals with Angelman syndrome are not known to be in the Center for Disease Control defined higher risk categories, the concerns about infection are always heightened in our community. In addition to the preventive measures we are all now very much aware of (washing hands, social distancing, disinfecting, etc.), here are a few resources you may find helpful:

How do school closures affect our children with Angelman syndrome?

We realize that as a community, our kids being home from school is more complicated than it is for their neurotypical peers. Most of our children with Angelman syndrome have IEPs (Individualized Educational Plans) which makes distance learning much more challenging. Without any formal training, we are now acting as educators, para-educators, therapists, social workers, and behaviorists. If you haven’t already done so, reach out to your child’s educational team to request a tele-consult for guidance on your child’s unique needs.

FAST advises all of us to take a deep breath, be kind to ourselves, be patient, and check out some of these helpful resources:

What local resources are available for support?

FAST has complied a list of potential resources for families within the United States that may be faced with hardship or are searching for local resources.

What is happening with FAST-funded research?

FAST has recently approved funding for three novel research projects and have several additional research contracts in process. We realize that the state mandated closures will most likely delay progress in the labs; however, as soon as restrictions are lifted, our researchers are ready, excited, and anxious to get back to the work of developing therapeutics to treat all individuals with Angelman syndrome. FAST will be sharing summaries of our exciting new research projects and our new caregiver support initiatives soon, so stay tuned!

What is happening with the GeneTx Biotherapeutics’ clinical trial?

Scott Stromatt, M.D., CMO of GeneTx Biotherapeutics provided the following update,

“The first group of patients in the clinical trial of GTX-102 have received their first dose. The clinical trial is proceeding as planned and we are closely monitoring the COVID-19 pandemic and how it might impact this clinical study. Patient safety is paramount and we are making adjustments as necessary to continue the required monitoring while reducing the burden to families where possible. The FDA has also recognized the need for flexibility for patients in clinical trials and issued a document to help companies implement changes to studies in-tended to help protect patients during this difficult time. One site is activated and treating patients, while the other six sites are in various stages of the activation process. The pandemic has slowed down the site activation process as each institution is addressing the COVID-19 pandemic in their region.”

What is happening with Ovid Therapeutic’s Angelman Trials?

Ovid clinical trials are continuing. We are closely monitoring COVID-19 and the evolving impact on families in our clinical trials. Every location where our clinical trials are being conducted faces different challenges and disruptions, so it is crucial that families and site study teams remain in close contact. Ovid is in regular contact with each site to provide guidance. In the event you lose contact with your study team, please contact Ovid and we will provide immediate support.

Currently, Ovid has two ongoing clinical trials in Angelman syndrome: The Phase 3 NEPTUNE study, and the Open-Label ELARA study. Both of these clinical trials are proceeding. The safety of every member of the Angelman community is the core focus for Ovid during this global crisis, and we plan to proceed with empathy, integrity and responsibility.

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What is happening with the Angelman Natural History Trial?

As you are probably aware, all of the institutions that are involved in the ongoing Angelman Syndrome Natural History study have suspended non-urgent clinical operations, including all elective surgeries, clinic visits, and research visits, until the pandemic is under control and the physical distancing recommendations are lifted. While we hope that research visits can be conducted again from May-June 2020 onwards, no one knows when normal operations will resume at each institution.

We greatly appreciate your ongoing support of our study. The health and safety of our families is paramount, so we will not be having in-person visits until it is safe to do so again. We plan to continue with the Angelman Syndrome Natural History study by completing the questionnaires and standardized assessments that can be performed remotely via telephone calls, Skype, Zoom, or other means.

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What is happening with the Freesias Study?

We understand those living with Angelman Syndrome and their loved ones may be facing a high level of uncertainty during this serious health situation. Patient safety is Roche/Genentech’s highest priority. As a company, we are taking COVID-19 seriously and are committed to keeping the communities we serve updated with any new information we learn that could help inform health decisions related to our medicines and clinical trials.

Roche/Genentech are taking the necessary cautionary measures and working to keep specific home based FREESIAS activities on-going for patients and families. However, site visits and home visits are all paused at the time.

  • What activities can continue:
    • Sleep mat
    • Sleep diary
    • Seizure diary
  • What activities have paused:
    • Site visits
    • Home visits (EEG/PSG)
    • Actigraphy around home visits

Any questions that you have around FREESIAS or how Covid-19 impacts the timeline, can be directed to your specific study site coordinator. Please stay well and healthy and we will continue to update the community and FREESIAS sites as information around Covid-19 evolves.

What is happening with the IONIS trial?

As the COVID-19 pandemic evolves, our main concerns are you and your health. While we continue to focus on advancing our programs which includes planning for the phase 1/2 study in Angelman Syndrome patients, we are cognizant of the strain this pandemic puts on our healthcare systems.

Ionis is carefully monitoring the situation and focused on the safety of our study participants. For patients already enrolled in clinical trials, we advise patients and families participating in our clinical studies to follow the advice provided by their clinical trial site team and abide by any guidance issued by local authorities. For our upcoming clinical trial in AS, our priority is to keep the program on track and maintain our current timeline to start the study in the fall, while maintaining the safety of everyone involved.

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What about fundraising events?

Our community members that are holding grassroots fundraising events in the immediate future are evaluating, on a case by case basis, whether their event needs to be postponed or cancelled. Although promoting your CAN page during these trying times meets the social distancing criteria, we understand that fundraising is difficult due to the economic uncertainty we all currently face. We do suggest keeping your network of supporters updated, via your CAN pages, on exciting developments in the Angelman community so that when these difficult times are behind us, we can once again count on their robust support to assist us in curing Angelman syndrome. FAST is thrilled to still be receiving donations daily and as al-ways, we are extremely grateful to our community who supports us in both good times and bad.

What about the 2020 FAST Summit & Gala?

While we do not know what the future holds, we will continue to move forward with our plans to hold the 2020 FAST Summit & Gala and are praying that it is the grand celebration we will all desperately need by that time. FAST will roll out the 2020 FAST Summit & Gala Ticket Giveaway and Scholarship Applications as normally planned, making any modifications as necessary, and will keep our community up to date at every step along the way.

We do not know how long or how vast the impact of COVID-19 will be; however, be certain, that we will continue to do our best to CureAngelmanNow! We at FAST are grateful to each one of you, for raising awareness, raising funds, being there for each other and truly, being One Committed CommUNITY!

If you have additional questions that have not been addressed in this statement, please contact us at

Local Resources

FAST has complied a list of potential resources for families within the United States that may be faced with hardship or are searching for local resources. The following links may be useful for finding financial support, helping with food insecurity, and other needs at this time.

The information and links provided above are for general informational purposes only. In accessing these sites, you are leaving the website. These links are offered only for use at your discretion. All information and links are provided in good faith; however, by providing links to other sites, FAST does not guarantee, approve or endorse the information or products available on these sites.

FAST funds pioneering infrastructure grant

FAST funds pioneering infrastructure grant

FAST is thrilled to announce a grant to our continued partners and renowned scientists dedicated to advancing therapeutics for Angelman syndrome – David Segal, Ph.D., Jill Silverman, Ph.D., and the team at the University of California, Davis.  This grant provides the funding to build a lab devoted to Angelman syndrome (AS) research, establishing an infrastructure in which this team can evaluate multiple therapeutics simultaneously.

Dr. Jill Silverman is a behavioral neuroscientist with 18 years of training and experience focusing on preclinical rodent model systems with a strong emphasis in neurodevelopmental disorders and intellectual disability.

Dr. David Segal is a UC Davis professor of Biochemistry and Molecular Medicine with joint appointments in the Genome Center, the MIND Institute, and the Department of Pharmacology.  His area of expertise is in gene editing.

This funding will:

  • Create a stable infrastructure for rapid testing of potential therapeutics in AS rodent models through at least 2025
  • Train and retain staff dedicated to these studies, creating a new generation of scientists focused on AS research with combined expertise in molecular and behavioral components of AS
  • Provide lab equipment and supplies
  • Maintain AS cell lines and rodent model colonies at the University
  • Provide long term stability for this dedicated team to keep their focus on identifying and evaluating potential therapeutics for the treatment of Angelman syndrome

Drug evaluation is incredibly complex as various animal models and cell lines need to be carefully and thoroughly evaluated in order to gain accurate conclusions. This team has dedicated their careers to perfecting this task, and have become key opinion leaders in understanding Angelman syndrome specific models. Dr. Silverman has developed the experimental design, in collaboration with Dr. Segal, validated and standardized testing procedures, and will oversee all aspects of results interpretation.  Dr. Segal will direct the molecular analysis of the experiments.  They bring with them an impressive team of geneticists and researchers with vast experience in working with disease specific models. This program will allow external researchers and industry partners to have access to this wealth of expertise.

There are multiple pharmaceutical companies that have potentially promising therapeutics for the treatment of AS.  However, they do not have expertise in AS, or the specific tools necessary to properly evaluate these drugs for this population.  This infrastructure grant allows AS experts to provide those services and elucidate if a potential therapeutic warrants further development toward potential human clinical trials.

As examples, two new projects are currently being sent to this UC Davis team:

  • Evaluation of a small molecule in Angelman rodent models that was recently reported to rescue deficits in motor function and learning in an adult AS mouse model.  The lab will seek to independently validate these reports in mice and rats.
  • Screening of a new drug library in AS reporter neurons.  These compounds will be evaluated in primary neuronal cultures and carefully evaluate for paternal Ube3a gene activation.

FAST is incredibly hopeful about therapeutics already in and nearing human clinical trials.  But we are not finished until every person with Angelman syndrome sees a meaningful therapeutic benefit.  We keep pushing, and this lab with these amazing individuals will be part of what enables us to do this even more efficiently and effectively.

Constitución del Comité Científico de FAST España

Constitución del Comité Científico de FAST España

El pasado 28/04/2021 se celebró la reunión de constitución del Comité Científico de FAST España.

El Comité está formado por las Unidades Monográficas sobre el Síndrome de Angelman de los Hospitales Parc Taulí de Barcelona y Puerta de Hierro de Madrid junto con el grupo de investigación del Dr. Ugo Mayor de la Universidad del País Vasco.
Los asistentes a dicha reunión fueron:

Por parte del Hospital Puerta Hierro
-Dra. Enriqueta Román
-Dra. Maria Belén Ruiz Antorán
-Dra. Gema Iglesias
-Dr. Julián Lara
-Dra. Maria Lorenzo
-Dra. Rosario Cazorla
-Dr. Luis Fernando Lopez
-Dra. Isabela Novo

Por parte del Hospital Parc Taulí:
-Dra. Débora Itzep Pérez
-Dra. Neus Baena
-Dra. Ariadna Rámirez
-Dra. Ana Roche

Y por último el Dr. Ugo Mayor, del Grupo de Investigación Neuronal Ubiquitin Pathways de la Universidad del País Vasco.

Durante la reunión, entre otros temas, se analizó el documento preliminar sobre estrategia de investigación a seguir por la Fundación, emplazando a la próxima reunión para su aprobación.

Así mismo se estuvieron examinando qué acciones inmediatas se podían seleccionar para arrancar la actividad investigadora del Fundación; entre ellas, destacó la puesta en marcha del Estudio de Historia Natural del Síndrome de Angelman; este estudio ya se ha desarrollado en USA Y UK y es básico para el conocimiento del desarrollo de la enfermedad y por tanto, un dato de partida fundamental para las estrategias de cura actualmente en desarrollo; se acordó acometer el estudio partiendo del protocolo desarrollado por FAST-UK, adaptándolo a la realidad española.

Es muy importante que las familias tomen conciencia de la importancia de participar en el estudio ya que uno de los criterios de selección de emplazamientos, por parte de las empresas farmacéuticas, para la realización de los ensayos clínicos, es la existencia de este tipo de información que les permitirá contrastar los datos obtenidos de los pacientes tratados, con relación a la evolución natural de la enfermedad

FAST asigna fondos para el Consorcio de Atención de Emergencia de Epilepsia para pacientes con Síndrome de Angelman a través de una línea telefónica directa (Emergency Care Consortium for Seizure Hotline)

FAST asigna fondos para el Consorcio de Atención de Emergencia de Epilepsia para pacientes con Síndrome de Angelman a través de una línea telefónica directa (Emergency Care Consortium for Seizure Hotline)

FAST establece el Consorcio de Atención de Emergencia para ayudar a más del 90% de individuos con el Síndrome de Angelman que han reportado tener epilepsia.

Downers Grove, Ill. (Abril 26 de 2021) — FAST, (por sus siglas en inglés: Fundación para la Terapéutica de Síndrome de Angelman), anuncia la asignación de fondos a una línea telefónica directa a nivel global de atención médica de emergencia de epilepsia para pacientes con Síndrome de Angelman. La línea telefónica directa es gratuita, disponible las 24 horas al día y los 7 días de la semana, y permite consultas de profesional a profesional para manejar de manera apropiada las crisis urgentes en pacientes con Síndrome de Angelman, especialmente las crisis epilépticas. Más del 90% de los individuos con Síndrome de Angelman padecen crisis convulsivas que muchas veces son muy difíciles de controlar con medicamentos anti epilépticos tradicionales.

El Consorcio de Cuidado de Emergencia contará con expertos clínicos que de verdad entienden los matices únicos al Síndrome de Angelman. Poder anticipar y manejar las convulsiones es una preocupación común en los padres y cuidadores de personas con Síndrome de Angelman. Entrar a una guardia o a una sala de urgencias con un paciente con una afección rara, como el SA, y ser atendido por un doctor con poca experiencia en el síndrome y los matices del manejo de las convulsiones que son exclusivos del síndrome, puede ser desafiante y frustrante.

FAST entiende que las convulsiones mal o sub-diagnosticadas, así como las elecciones de drogas anti epilépticas específicas utilizadas durante una crisis epiléptica, pueden impactar a largo plazo en el desarrollo o potencialmente causar daño a los individuos con el Síndrome.

A través del liderazgo de la Dra. Jessica Duis del Children’s Hospital Colorado y un equipo de profesionales médicos, como la Dra. Elizabeth Berry-Kravis del Rush University Medical Center y la Dra. Srishti Nangia de Cornell University en Weill Cornell Medical Center, FAST se asegura de que todas las personas con síndrome de Angelman tengan acceso a los más altos estándares de atención. Los padres podrán proveer el número telefónico de la línea para asistencia médica a un médico profesional que puede no estar familiarizado con el síndrome de Angelman para manejar adecuadamente los problemas médicos urgentes.

“Nuestro objetivo es ofrecer a los proveedores de medicina de todo el mundo consultas de profesional a profesional”, dijo la Dra. Duis. “Planeamos utilizar protocolos que se convertirán en recolección de data para tener evidencia sobre el tratamiento del síndrome de Angelman. La línea directa es un recurso único en su tipo con un médico experto disponible las 24 horas, los 7 días de la semana para una enfermedad rara. Estamos agradecidos por la oportunidad de asegurarnos de que todas las personas con síndrome de Angelman reciban el mismo estándar de atención y de brindar a la comunidad un recurso importante”.

El equipo de liderazgo médico recopilará datos, tales como si la persona requirió admisión al hospital, los medicamentos utilizados y el control de las convulsiones después de la consulta, para crear pautas de atención global para el manejo de emergencia y urgencia de estos pacientes. Los datos proporcionarán información prospectiva, recopilada en el curso del tratamiento por expertos en síndrome de Angelman para permitir a los médicos comprender la utilidad de los protocolos establecidos y crear recomendaciones con visión de futuro para la comunidad de Angelman.

“Existe una necesidad vital de tener acceso a médicos profesionales con conocimiento del síndrome de Angelman durante una crisis”, dijo John Schlueter, presidente de la Junta Directiva de FAST. “La subvención del Consorcio de Atención de Emergencia es un enfoque novedoso para brindar las mejores prácticas para el manejo de convulsiones y atención de urgencia para las personas con síndrome de Angelman, que al mismo tiempo recopila datos valiosos para ayudar a mejorar el estándar de atención para nuestros seres queridos”.

Para más información sobre la fundación FAST, FAST España y FAST Latam visite y

Acerca del síndrome de Angelman

El síndrome de Angelman es una condición neurogenética poco común causada por la pérdida de función del alelo del gen UBE3A heredado por la madre. Se estima que afecta a 1 de cada 12.000 a 1 de cada 20.000 personas en todo el mundo. Las personas con síndrome de Angelman tienen retrasos en el desarrollo, problemas de equilibrio, deterioro motor y convulsiones debilitantes. Algunos no pueden caminar y la mayoría no habla. Si bien las personas con síndrome de Angelman tienen una esperanza de vida normal, requieren atención continua y no pueden vivir de forma independiente. Actualmente no existen terapias aprobadas para el síndrome de Angelman; sin embargo, varios síntomas de este trastorno se pueden revertir en modelos animales adultos del síndrome de Angelman, lo que sugiere que la mejora de los síntomas se puede lograr potencialmente a cualquier edad.

Acerca de FAST

FAST (Foundation for Angelman Syndrome Therapeutics) es una organización de investigación sin ánimo de lucro que se enfoca principalmente en financiar la investigación con mayor promesa de tratar el síndrome de Angelman. FAST es el mayor financiador no gubernamental de investigaciones específicas de Angelman. Paula Evans, madre de una niña con síndrome de Angelman, fundó FAST en 2008. En 2017, FAST formó GeneTx Biotherapeutics para desarrollar GTX-102, un oligonucleótidos antisentido, para ensayos clínicos en humanos.

DISCLAIMER: This version is a translation of the original in English for information purposes only. In case of discrepancy, the official English original will prevail. The Foundation for Angelman Syndrome Therapeutics shall not be liable for any inaccuracies or errors in the translation or for any loss or damage of any kind, including without limitation, indirect or consequential loss. Any discrepancies or differences created in the translation are not binding and have no legal effect for compliance or enforcement purposes. If any questions arise concerning the accuracy of the information presented by the translated version, please refer to the official English version. In addition, some applications, files or items cannot be translates including graphs, photos or portable document formats (PDFs).

Rescate funcional en un modelo de síndrome de Angelman después del tratamiento con células madre hematopoyéticas transducidas con lentivector

Rescate funcional en un modelo de síndrome de Angelman después del tratamiento con células madre hematopoyéticas transducidas con lentivector

Las células madre hematopoyéticas transducidas con lentivector para el reemplazo del gen UBE3A muestran un rescate completo de los síntomas de AS en el modelo de ratón del síndrome de Angelman en animales recién nacidos y adultos.
“Este es uno de los rescates más sólidos en ratones recién nacidos y adultos con síndrome de Angelman que jamás hayamos visto. Este enfoque es muy prometedor para todas las personas que viven con SA, independientemente de su edad”, dijo Allyson Berent, directora científica de FAST.

Tal y como se expone en el artículo publicado por PubMed:

“El síndrome de Angelman es un trastorno del neurodesarrollo poco común que se caracteriza por deterioro de las habilidades de comunicación, ataxia, déficits motores y de equilibrio, discapacidades intelectuales y convulsiones. La causa genética del síndrome de Angelman es la pérdida neuronal de la expresión de UBE3A en el cerebro. Un enfoque novedoso, descrito aquí, es una terapia génica de células madre que utiliza células madre y progenitoras hematopoyéticas transducidas con lentivector para administrar UBE3A funcional a las células afectadas. Hemos demostrado tanto la prevención como la reversión de los fenotipos del síndrome de Angelman tras el trasplante y el injerto de células CD34 + humanas transducidas con un lentivector Ube3a en un nuevo modelo de ratón Ube3amat- / pat + IL2rg- / y inmunodeficiente del síndrome de Angelman. Se observó una mejora significativa en los ensayos de comportamiento motor y cognitivo, así como en la potencia delta normalizada medida por EEG en recién nacidos y adultos trasplantados con las células modificadas genéticamente. Los perfiles hematopoyéticos humanos observados en los órganos linfoides mediante la detección de células inmunitarias humanas eran normales. La expresión de UBE3A se detectó en los cerebros del grupo de tratamiento de adultos después de la tinción inmunohistoquímica que ilustra el injerto de las células modificadas con genes que expresan UBE3A en el cerebro. Como se demostró con nuestros datos, este enfoque de terapia génica de células madre ofrece una estrategia de tratamiento prometedora para el síndrome de Angelman, que no requiere una ventana de tratamiento crítica.”

© The Author (s) 2021. Publicado por Oxford University Press.

Neuren Pharmaceuticals

Bienvenido a Neuren Pharmaceuticals (; ASX: NEU). Neuren es una empresa con sede en Melbourne que esta a la vanguardia de los esfuerzos para desarrollar tratamientos efectivos para los trastornos de neurodesarrollo pediátrico raros.

En los últimos años, han dirigido con éxito su primer fármaco (Trofinetide) que esta en ensayos clínicos en fase 3 (la última etapa antes de la aprobación) para el tratamiento del síndrome de Rett. La prueba final está en marcha en los EE. UU. Y los resultados se publicarán a finales de año. Su segundo fármaco, “NNZ-2591”, se encuentra en desarrollo clínico para otros cuatro trastornos del desarrollo neurológico, incluido el síndrome de Angelman. La emocionante noticia que tiene FAST Australia es que planean iniciar un ensayo clínico australiano en Angelman a finales de 2021.

Su fármaco NNZ-2591 ha demostrado una gran eficacia en un modelo de ratón del síndrome de Angelman y ha recibido la designación de fármaco huérfano tanto por la FDA de EE. UU. Como por el regulador europeo de fármacos, la EMA. Los estudios preclínicos con NNZ-2591 han demostrado que parece normalizar la biología subyacente del cerebro y sugieren que NNZ-2591 puede tener un efecto favorable en las características generales del síndrome de Angelman, en lugar de limitarse a tratar un síntoma aislado o varios síntomas.

Durante los próximos meses, FAST mantendrá a la comunidad actualizada sobre Neuren, el estudio y su medicamento. En este espacio podéis encontrar futuras noticias

Declaración comunitaria de Ionis

Declaración comunitaria de Ionis

Ionis actualizacion sindrome de angelman

22 de Marzo 2021

Estimada comunidad del síndrome de Angelman,

Escribimos esta carta para compartir con vosotros una actualización sobre nuestro progreso hacia el inicio de nuestro ensayo clínico en personas que viven con el síndrome de Angelman. El año pasado fue increíblemente difícil en muchos niveles, y aunque el 2021 seguirá teniendo sus desafíos, tenemos la esperanza de que nuestras vidas comiencen a volver a la normalidad y de que habrá grandes avances hacia un tratamiento para las personas que viven con el síndrome de Angelman en el año que viene.

Como anunciamos en diciembre de 2020, anticipamos comenzar nuestro ensayo clínico en la segunda mitad de 2021 y seguimos en camino de alcanzar ese objetivo. Estamos completando los estudios preclínicos necesarios con nuestro compuesto principal y estamos seguros de haber seleccionado el mejor compuesto para llevarlo a cabo como un tratamiento potencial para la población más amplia del síndrome de Angelman. También hemos comenzado a prepararnos para las actividades operativas para lanzar nuestro ensayo clínico. Algunas de esas actividades incluyen discusiones con las autoridades reguladoras locales en los EE. UU. Y otros países, identificación del sitio, así como el desarrollo de herramientas específicas para el síndrome de Angelman, para crear oportunidades óptimas para capturar y medir los posibles cambios de los participantes que pueden verse en el ensayo clínico. .

Estamos en camino de iniciar el estudio global de Fase 1-2a a finales de este año. El estudio inscribirá hasta 50 participantes e incluirá un amplio rango de edades, desde niños pequeños hasta adultos. El objetivo principal de este primer estudio es determinar la seguridad y tolerabilidad de nuestro medicamento. El estudio incluirá varias evaluaciones clínicas completadas en las visitas a la clínica, así como cuestionarios que los padres o cuidadores completarán en casa.

Entendemos que es de vital importancia comunicarse a menudo con la comunidad y estamos comprometidos a proporcionar actualizaciones periódicas sobre nuestro progreso. Nuestro objetivo es manteneros informados sobre el proceso del ensayo clínico, las actividades relacionadas con el inicio del estudio y los plazos previstos.

Estamos muy agradecidos con todas las familias que se ofrecen como voluntarias para participar en los esfuerzos de investigación y desarrollo de medicamentos. Solo con vuestro apoyo podemos hacer avanzar las terapias potenciales hacia los ensayos clínicos. Esperamos continuar nuestra extraordinaria asociación con la comunidad a medida que avanzamos hacia un tratamiento para el síndrome de Angelman.

Equipo de síndrome de Ionis Angelman