Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

De qué trata este estudio

El registro indica que este estudio recluta participantes. La disponibilidad puede variar por centro.

Tipo de estudio

Observacional

Fase

No aplica / no indicada

Rango de edad

2 años - 100 años

Sexo admitido

Todos los sexos

Voluntarios sanos

No aceptados

Participantes

400 Estimado

Estos son puntos de partida, no una decisión de elegibilidad. El equipo debe revisar todos los requisitos.

Acerca de la investigación

Background:

Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.

Objective:

To look for potential genetic sources of diseases among children and their families.

Eligibility:

Children aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.

Design:

Participants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.

¿Quién podría participar?

La lista siguiente contiene el texto del patrocinador. Puede incluir condiciones, tratamientos previos, resultados de pruebas y otros requisitos. Aparecer en tu búsqueda no significa que califiques.

• INCLUSION CRITERIA:

To be eligible to participate in this study, an individual must meet all of the following criteria:

1. Stated willingness to comply with all study procedures and availability for the duration of the study.
2. Probands aged \>2 years at enrollment or first-degree relatives of probands (age \>2 years).
3. Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.
4. Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.
5. Ability of participant and their parent or guardian to understand and have willingness to sign a written informed consent and/or assent document.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
2. Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.
3. Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.
4. In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.

Población del estudio

To be eligible to participate in this study, an individual must meet all of the following criteria: willingness to comply with all study procedures and availability for the duration of the study; age \>2 years when enrolled in the study; suspicion of genetic cause for illness due to strong family history, young age of onset, illness being either more or less severe than expected; verification of meeting clinical inclusion criteria by reviewing a participant's medical record; ability of participant and their parent or guardian (if \<18 years old) to understand and willingly sign informed consent document. Those with previous genetic testing that was positive, those with evidence that their symptoms are caused by a condition unlikely to be genetic, or those with conditions that may interfere with their ability to participate in required testing will be excluded from this study.

Tratamiento, grupos y participación

El registro puede describir tratamientos y duración sin incluir un calendario completo. Pide al equipo las visitas, procedimientos, riesgos, costos y alternativas. Mantén tu atención habitual salvo que tu médico te indique un cambio.

Asignación

No informado

Enmascaramiento

No informado

Qué evalúan los investigadores

Estas medidas indican qué se estudia. No prueban que un tratamiento funcione.

Medidas principales

Medidas secundarias

Centros de investigación (1)

El estado general puede diferir del estado de un centro. Confirma la disponibilidad antes de trasladarte.

1 centros

Equipo y fechas

Patrocinador principal

National Human Genome Research Institute (NHGRI)

Inicio del estudio

15 nov 2026 Estimado

Finalización primaria

21 ago 2034 Estimado

Finalización del estudio

21 ago 2034 Estimado

Primera publicación

19 sept 2024 Real

Última actualización

10 nov 2026 Real

Contactos oficiales del estudio