가족성 자율신경실조증의 자연사
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.
연구 개요
상세 설명
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.
연구 유형
등록 (추정된)
연락처 및 위치
연구 연락처
- 이름: Horacio Kaufmann, MD
- 이메일: horacio.kaufmann@nyulangone.org
연구 연락처 백업
- 이름: Britney A. Paredes Lopez
- 전화번호: 2122637225
- 이메일: Britney.ParedesLopez@nyulangone.org
연구 장소
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New York
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New York, New York, 미국, 10016
- 모병
- Dysautonomia Center - School of Medicine -NYU Langone Medical Center
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수석 연구원:
- Horacio Kaufmann, MD
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연락하다:
- Horacio Kaufmann, MD
- 이메일: horacio.kaufmann@nyulangone.org
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연락하다:
- Britney A. Paredes Lopez
- 전화번호: 2122637225
- 이메일: Britney.ParedesLopez@nyulangone.org
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Ramat Gan
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Tel HaShomer, Ramat Gan, 이스라엘, 52621
- 모병
- Sheba Medical Center - Safra Children's Hospital
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연락하다:
- Bat El Bar Aluma, MD
- 전화번호: +972 52 666 8335
- 이메일: BatEl.BarAluma@sheba.health.gov.il
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연락하다:
- Reut Ramon, MPH
- 전화번호: +972 52 666 7031
- 이메일: Reut.Ramon@sheba.health.gov.il
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참여기준
자격 기준
공부할 수 있는 나이
건강한 자원 봉사자를 받아들입니다
연구 대상 성별
샘플링 방법
연구 인구
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.
설명
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.
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
- 관찰 모델: COHORT
- 시간 관점: PROSPECTIVE
코호트 및 개입
그룹/코호트 |
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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. |
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core
기간: 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
|
2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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To define the natural history of visual function and identify predictive biomarkers of disease progression and severity.
기간: 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
기간: 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
|
공동 작업자 및 조사자
수사관
- 수석 연구원: Horacio Kaufmann, MD, NYU Langone Health
연구 기록 날짜
연구 주요 날짜
연구 시작 (실제)
기본 완료 (추정된)
연구 완료 (추정된)
연구 등록 날짜
최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
추가 관련 MeSH 약관
기타 연구 ID 번호
- 16-01774
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
미국 FDA 규제 기기 제품 연구
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