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The Natural History of Familial Dysautonomia
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.
| Condition or disease |
|---|
| Familial Dysautonomia (Riley-Day Syndrome) Hereditary Sensory and Autonomic Neuropathies Hereditary Sensory and Autonomic Neuropathy 3 |
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.
| Study Type : | Observational |
| Estimated Enrollment : | 400 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Natural History of Familial Dysautonomia |
| Actual Study Start Date : | February 22, 2017 |
| Estimated Primary Completion Date : | February 21, 2022 |
| Estimated Study Completion Date : | December 31, 2022 |
| Group/Cohort |
|---|
|
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.
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- 1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core [ Time Frame: 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.
- To define the natural history of visual function and identify predictive biomarkers of disease progression and severity. [ Time Frame: 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.
- To define the natural history of gait ataxia and identify predictive biomarkers of disease progression and severity [ Time Frame: 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.
Biospecimen Retention: Samples With DNA
| Ages Eligible for Study: | 4 Years and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
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.
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.
| Contact: Maria Cotrina, PhD | 212 263 7225 | Maria.Cotrina@nyulangone.org | |
| Contact: Lucy Norcliffe-Kaufmann, PhD | 212 263 7225 | Lucy.Norcliffe-Kaufmann@nyulangone.org |
| United States, New York | |
| Dysautonomia Center - School of Medicine -NYU Langone Medical Center | Recruiting |
| New York, New York, United States, 10016 | |
| Contact: Maria Cotrina, Ph D 212-263-7225 Maria.Cotrina@nyulangone.org | |
| Contact: Lucy Norcliffe-Kaufmann, PhD 212 263 7225 Lucy.Norcliffe-Kaufmann@nyulangone.org | |
| Israel | |
| Sheba Medical Center - Safra Children's Hospital | Recruiting |
| Tel HaShomer, Ramat Gan, Israel, 52621 | |
| Contact: Bat El Bar Aluma, MD +972 52 666 8335 BatEl.BarAluma@sheba.health.gov.il | |
| Contact: Reut Ramon, MPH +972 52 666 7031 Reut.Ramon@sheba.health.gov.il | |
| Principal Investigator: | Lucy Norcliffe-Kaufmann, PHD | NYU Langone Health |
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | April 4, 2019 | ||||||||
| First Posted Date | April 19, 2019 | ||||||||
| Last Update Posted Date | April 19, 2021 | ||||||||
| Actual Study Start Date | February 22, 2017 | ||||||||
| Estimated Primary Completion Date | February 21, 2022 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core [ Time Frame: 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.
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| Original Primary Outcome Measures |
1. To create a database of familial dysautonomia disorder that will serve as a phenotypic core [ Time Frame: 5 years ] We 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.
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| Change History | |||||||||
| Current Secondary Outcome Measures |
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| Original Secondary Outcome Measures |
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| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | The Natural History of Familial Dysautonomia | ||||||||
| Official Title | Natural History of Familial Dysautonomia | ||||||||
| Brief Summary |
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. |
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| Detailed Description |
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. |
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| Study Type | Observational | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
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| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description:
optional blood sample
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population |
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. |
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| Condition |
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| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts | 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.
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| Publications * | Not Provided | ||||||||
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
400 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | December 31, 2022 | ||||||||
| Estimated Primary Completion Date | February 21, 2022 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria:
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| Sex/Gender |
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| Ages | 4 Years and older (Child, Adult, Older Adult) | ||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts |
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| Listed Location Countries | Israel, United States | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT03920774 | ||||||||
| Other Study ID Numbers | i16-01774 | ||||||||
| Has Data Monitoring Committee | No | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement | Not Provided | ||||||||
| Responsible Party | NYU Langone Health | ||||||||
| Study Sponsor | NYU Langone Health | ||||||||
| Collaborators | Not Provided | ||||||||
| Investigators |
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| PRS Account | NYU Langone Health | ||||||||
| Verification Date | April 2021 | ||||||||
