A história natural da disautonomia familiar
História Natural da Disautonomia Familiar
The study will collect clinical information from patients with FD and allow them to give blood to help develop biological markers of the disease to aid diagnosis and treatment.
This is a non-invasive, non-interventional, observation study that poses only minimal risk for participants. The study will document the clinical features of patients with FD overtime by storing their routine clinical test results in a central database. The study will involve collaborators at other specialist clinics around the world who follow/evaluate patients with FD annually. Providing blood for future use is optional.
Visão geral do estudo
Status
Descrição detalhada
Define the phenotypic characteristics, severity and clinical evolution of FD on a patient-by patient basis. Investigators will enroll patients with FD in a multi-center observational natural history study to evaluate their biochemical, neurological and autonomic phenotype. Investigators will follow patients to systematically study the onset and scaled severity of all clinical problems. Investigators will define progression rates of patients outside of a clinical trial to distinguish between static and progressive features, a challenge in congenital neuropathies. Investigators will continue banking blood to look for ways to monitor the disease phenotypes. Biomarkers that quantify renal, cardiovascular, respiratory, skeletal and cognitive aspects of the disease will be evaluated. This information is relevant when monitoring toxicity to drugs in clinical trials. Detailed clinical follow-up of patients with FD will allow investigators to determine when standard of care therapies (e.g., non-invasive ventilation, gastrostomy feedings) should be initiated and how these impact survival outcomes.
Specific Aim 2: Develop ways to measure progressive neurological deficits as outcome measures for future clinical trials. Investigators will test the hypothesis that worsening gait ataxia and progressive visual loss are caused by ongoing neuronal degeneration. Investigators will develop precise outcome measures based on these deficits to test the efficacy of new treatments. Investigators will prospectively evaluate longitudinal changes in the retinal structure (with optical coherence tomography) and visual function in a cohort of patients with FD. Investigators will determine the extent and severity of retinal abnormalities in all patients and how they change overtime. Investigators will establish whether structural abnormalities in the retina are correlated with disease severity and look for functional correlates as measured by visual acuity and color discrimination. Following the recent discovery that gait ataxia in patients with FD is the result of sensory deficits, investigators will perform quantitative assessments of passive joint angle matching at the knee to measure proprioceptive acuity. Investigators will determine how these measures change overtime as well as their impact on daily function and quality of life.
An organized, multi-site natural history study of patients with FD will enable investigators to define disease-specific outcomes for testing new therapies, a major breakthrough for these patients. The study also offers a unique opportunity to understand better how the brain develops when devoid of crucial sensory inputs.
Tipo de estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Horacio Kaufmann, MD
- E-mail: horacio.kaufmann@nyulangone.org
Estude backup de contato
- Nome: Britney A. Paredes Lopez
- Número de telefone: 2122637225
- E-mail: Britney.ParedesLopez@nyulangone.org
Locais de estudo
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New York
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New York, New York, Estados Unidos, 10016
- Recrutamento
- Dysautonomia Center - School of Medicine -NYU Langone Medical Center
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Investigador principal:
- Horacio Kaufmann, MD
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Contato:
- Horacio Kaufmann, MD
- E-mail: horacio.kaufmann@nyulangone.org
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Contato:
- Britney A. Paredes Lopez
- Número de telefone: 2122637225
- E-mail: Britney.ParedesLopez@nyulangone.org
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Ramat Gan
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Tel HaShomer, Ramat Gan, Israel, 52621
- Recrutamento
- Sheba Medical Center - Safra Children's Hospital
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Contato:
- Bat El Bar Aluma, MD
- Número de telefone: +972 52 666 8335
- E-mail: BatEl.BarAluma@sheba.health.gov.il
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Contato:
- Reut Ramon, MPH
- Número de telefone: +972 52 666 7031
- E-mail: Reut.Ramon@sheba.health.gov.il
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Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
Aceita Voluntários Saudáveis
Gêneros Elegíveis para o Estudo
Método de amostragem
População do estudo
This study will involve as many as 400 human subjects. Registered patients range from 3 months to 66-years in age. This is a natural history study that will collect information obtained as standard of care from patients with FD.
The study will involve children as it is a genetic disease with onset at birth. Adult patients will also be enrolled.
Descrição
Inclusion Criteria:
- Patients of any age with a diagnosis of familial dysautonomia (FD) with molecular confirmation of the IKBKAP mutation.
- Ability to provide informed consent (or assent) and comply with the study protocol
Exclusion Criteria:
- Subjects that do not wish to be a part of the study.
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
- Modelos de observação: COHORT
- Perspectivas de Tempo: PROSPECTIVE
Coortes e Intervenções
Grupo / Coorte |
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Familial Dysautonomia
Patients diagnosed with familial dysautonomia, a genetic disorder that affects the development and survival of nerve cells in the autonomic nervous system. It primarily affects neurons that control involuntary actions like regulation of blood pressure and breathing. It also affects the sensory nervous system and the perception of pain, heat and cold. |
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core
Prazo: 5 years
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Investigators will create an enrollment database of patients with familial dysautonomia. All patients will have standardized phenotypic evaluations that will combine clinical, physiological and biochemical strategies to characterize complex autonomic phenotypes, both known and still undiscovered. |
5 years
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Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
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To define the natural history of visual function and identify predictive biomarkers of disease progression and severity.
Prazo: 5 years
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Investigators will map the natural history of visual function including retinal structure and visual acuity and test the hypothesis that worsening visual loss is caused by ongoing neuronal degeneration. |
5 years
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To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity
Prazo: 5 years
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Investigators will map the natural history of gait ataxia and test the hypothesis that progressive ataxia is correlated with increasing loss of proprioceptive acuity caused by ongoing death of sensory neurons. |
5 years
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Colaboradores e Investigadores
Patrocinador
Investigadores
- Investigador principal: Horacio Kaufmann, MD, NYU Langone Health
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Real)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
- Doenças do Sistema Nervoso
- Doenças Neuromusculares
- Doenças Genéticas, Congênitas
- Doenças do Sistema Nervoso Periférico
- Doenças Neurodegenerativas
- Anomalias congénitas
- Distúrbios Heredodegenerativos, Sistema Nervoso
- Malformações do Sistema Nervoso
- Disautonomias primárias
- Doenças do Sistema Nervoso Autônomo
- Polineuropatias
- Doenças e Anormalidades Congênitas, Hereditárias e Neonatais
- Disautonomia Familiar
- Neuropatias sensoriais e autonômicas hereditárias
Outros números de identificação do estudo
- 16-01774
Informações sobre medicamentos e dispositivos, documentos de estudo
Estuda um medicamento regulamentado pela FDA dos EUA
Estuda um produto de dispositivo regulamentado pela FDA dos EUA
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