家族性自律神経失調症の自然史
家族性自律神経失調症の自然経過
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.
調査の概要
詳細な説明
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.
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前：Horacio Kaufmann, MD
- メール：horacio.kaufmann@nyulangone.org
研究連絡先のバックアップ
- 名前：Britney A. Paredes Lopez
- 電話番号：2122637225
- メール：Britney.ParedesLopez@nyulangone.org
研究場所
-
-
New York
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New York、New York、アメリカ、10016
- 募集
- Dysautonomia Center - School of Medicine -NYU Langone Medical Center
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主任研究者：
- Horacio Kaufmann, MD
-
コンタクト：
- Horacio Kaufmann, MD
- メール：horacio.kaufmann@nyulangone.org
-
コンタクト：
- Britney A. Paredes Lopez
- 電話番号：2122637225
- メール：Britney.ParedesLopez@nyulangone.org
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-
-
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Ramat Gan
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Tel HaShomer、Ramat Gan、イスラエル、52621
- 募集
- Sheba Medical Center - Safra Children's Hospital
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コンタクト：
- Bat El Bar Aluma, MD
- 電話番号：+972 52 666 8335
- メール：BatEl.BarAluma@sheba.health.gov.il
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コンタクト：
- Reut Ramon, MPH
- 電話番号：+972 52 666 7031
- メール：Reut.Ramon@sheba.health.gov.il
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-
参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
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.
説明
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.
研究計画
研究はどのように設計されていますか？
デザインの詳細
- 観測モデル：COHORT
- 時間の展望：PROSPECTIVE
コホートと介入
グループ/コホート |
|---|
|
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. |
この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core
時間枠：5 years
|
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
|
二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
To define the natural history of visual function and identify predictive biomarkers of disease progression and severity.
時間枠：5 years
|
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
|
|
To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity
時間枠：5 years
|
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
|
協力者と研究者
スポンサー
捜査官
- 主任研究者：Horacio Kaufmann, MD、NYU Langone Health
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (推定)
研究の完了 (推定)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (実際)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
追加の関連 MeSH 用語
その他の研究ID番号
- 16-01774
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
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