Resumen

El objetivo principal del estudio es evaluar la seguridad y eficacia de GTX-102 en participantes con síndrome de Angelman.

Descripción detallada

Este estudio de tipo cesta está diseñado para evaluar la seguridad y eficacia de GTX-102 en participantes con síndrome de Angelman, abarcando distintos genotipos y grupos etarios. El estudio consta de los subprotocolos A, B, C y D. Todos los subprotocolos son abiertos y siguen el mismo diseño, que incluye un período de selección, un período de carga y un período de mantenimiento. Los subprotocolos A, B y C son de un único brazo. En el subprotocolo D, los participantes son aleatorizados 2:1 hacia un grupo con GTX-102 o un grupo sin tratamiento. El grupo sin tratamiento sigue el mismo calendario de eventos que todos los demás grupos una vez finalizado el período sin tratamiento. Los participantes de todos los subprotocolos tienen la opción de continuar el tratamiento en un estudio de extensión a largo plazo tras su visita de fin de estudio.

Elegibilidad

Edad mínima: 1 YearEdad máxima: 64 YearsSexo: ALL

Criterios de inclusión

Signed informed consent from parent(s) or legal guardian(s)
Males and females of the following ages and genotypes at time of informed consent:
Subprotocol A: ≥ 1 to \< 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome
Subprotocol B: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman syndrome
Subprotocol C: ≥ 18 to \< 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype
Subprotocol D: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman syndrome
Weight ≥ 8 kg at Screening Visit
Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time \< 1.5x the upper limit of normal and platelets \> 75,000 cells/mm3 at the Screening Visit
Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including lumbar puncture (LP) procedure, magnetic resonance imaging (MRI) and tolerating anesthesia without intubation
From the time of informed consent through to at least 6 months after the final dose of GTX-102, females of childbearing potential who are sexually active must use highly effective contraception or abstinence. Males are able to participate if they agree to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the study and for at least 3 months after the final dose of GTX-102

Criterios de exclusión

Any change in medications or diet/supplements intended to treat symptoms of Angelman Syndrome (eg, sleeping aids, antiseizure medications, supplements, dietary change including ketogenic or low-glycemic index diet, other) within the month prior to the Screening Visit (excluding weight-based adjustments)
Any condition that creates an increased risk of unsuccessful lumbar puncture
Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors)
Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
Presence or history of any condition, lab abnormality, or infection that, in the judgment of the Investigator, would interfere with study participation, pose undue safety risk, or would confound interpretation of results
Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study
Use of any investigational product or investigational medical device within 6 months or 5 half-lives prior to the Screening Visit, or any prior use of gene therapy or an ASO regardless of length of time since last use
Concurrent participation in any interventional study

Intervenciones

other

No intervention

During the no treatment period participants do not receive any study drug

drug

GTX-102

antisense oligonucleotide

Ubicaciones

Clinical Trial Site

Pilar, Buenos Aires, Argentina

NOT_YET_RECRUITING

Patrocinadores

PrincipalUltragenyx Pharmaceutical Inc

Contactos

Patients Contact Trial Recruitment

CONTACT

Trialrecruitment@ultragenyx.com 1-888-756-8657

HCPs Contact: Medical Information