View clinical trials related to Dysautonomia, Familial.
Filter by:The purpose of this placebo controlled interventional study is to collect preliminary data on administering dexmedetomidine in patients with Familial Dysautonomia (FD) during a rapid cessation of autonomic crisis. The primary aims are to assess the feasibility and evaluate if measurements of heart rate, blood pressure and oxygen saturation can predict the start of an autonomic crisis.
This is a pilot open-label study to evaluate the feasibility of conducting a clinical trial using sublingual dexmedetomidine sublingual film to treat hyperadrenergic autonomic crises in patients with Familial Dysautonomia at home. The primary aims are to examine the feasibility of performing a clinical trial using dexmedetomidine at home to terminate autonomic crisis, and refine the interventions and assessments used to evaluate autonomic crisis termination.
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.
This is a single-blind, placebo-controlled, telemedicine clinical trial to assess the efficacy of cognitive behavioral therapy (CBT) in adult patients 18 years and older with familial dysautonomia (FD) and anxiety and/or depression and/or obsessive compulsive or related disorders. The trial will enroll 20 adult patients each with FD who have anxiety and/or depression and/or obsessive compulsive or related disorders by the DSM V criteria. Enrolled participants will be allocated to receive, in a non-randomized fashion, weekly 5-10 min talking sessions (i.e., placebo) for 8 weeks, followed by weekly 30-60 min CBT sessions during 8 weeks. Although investigators will be un-blinded to the intervention, participants will be blinded to the expected effects of each intervention. Both the talking sessions (i.e., placebo) and CBT sessions will be performed via telemedicine either via a HIPAA secure telemedicine platform or the telephone based on the preference of the individual patient. If a patient specifically requests talking or CBT sessions to be performed in person, this will be accommodated. The use of telemedicine is to accommodate disability and potential physical limitations of this unique patient population. The CBT sessions will be supervised by Lily Armstrong, certified mental health therapist and Dr. Thomas Boes, NYU Clinical Assistant Professor in the Departments of Psychiatric and Neurology.
To determine the effect of cognitive behavioral therapy (CBT) in the severity of anxiety and depression in adult patients with familial dysautonomia. Patients will be enrolled in an 8-week CBT program. All CBT sessions will be done either in person at the NYU Dysautonomia Center or over the phone to help accommodate disability and potential physical limitations of our patient population.
This is a pilot clinical trial of dronabinol to treat disabling attacks of nausea and vomiting in patients with familial dysautonomia (FD, also known as Riley Day syndrome or hereditary sensory and autonomic neuropathy type III). FD is a rare autosomal recessive disease in which the growth and development of selective nerves is impaired. Patients with FD suffer recurrent uncontrollable nausea and vomiting crises accompanied by skin flushing, tachycardia and arterial hypertension. Current treatments of nausea are ineffective or have intolerable side sides. Our long-term goal is to treat nausea effectively and without side effects, a therapeutic intervention that would markedly improve the quality of life of patients with FD.
The overall study objectives are to determine whether carbidopa (Lodosyn®) is safe and well tolerated and to assess whether it can inhibit catecholamine-induced paroxysmal hypertension and normalize or reduce the exaggerated blood pressure variability in patients with familial dysautonomia (FD, also called hereditary sensory and autonomic neuropathy type III or Riley-Day syndrome). Funding Source- FDA OOPD.
Familial dysautonomia (FD) is a devastating hereditary disease in which the development of selective neuronal populations is impaired because of a deficiency of the protein IKAP (Slaugenhaupt, 2002). There is no known cure. Treatments are supportive, often ineffective and around half of all patients die before reaching age 40 (Axelrod et al., 2002). Phosphatidylserine is an FDA approved food supplement that was shown recently to correct the genetic abnormality and restore IKAP protein levels in cell lines derived from patients with FD (Keren et al., 2011) and a humanized mouse model of the disease (Bochner et al., 2013). Despite its safety and efficacy in this fragile population being unknown, many patients with FD are currently taking phosphatidylserine The investigators propose to conduct a safety, tolerability and early proof of concept efficacy study of phosphatidylserine in patients with FD. The study will be divided into two independent arms. The first phase of the study will be an open-label dose titration study to determine the safety and optimal dose of phosphatidylserine and its effect of normal IKBKAP mRNA levels in 40 patients with FD. The second phase will be a longitudinal observational study in which we will follow, on a yearly basis, patients with FD of all ages who opt to take phosphatidylserine. In this study, we will evaluate the long-term safety of phosphatidylserine in patients with FD and hope to determine whether phosphatidylserine has any impact on the clinical evolution of the disorder. Our long-term goal is to find an effective therapy that will improve the quality of life for patients with FD and alter disease prognosis. We believe that the promise of phosphatidylserine and its availability in health food shops warrants a controlled safety, tolerability and efficacy study to determine whether it should be taken by patients with FD. This study is not intended to determine whether phosphatidylserine has a new indication to treat FD.
This is a study of kinetin, a nutritional supplement that corrects the mRNA splicing defect in patients with familial dysautonomia (FD, also known as Riley Day syndrome or hereditary sensory and autonomic neuropathy type III). FD is a rare fatal autosomal recessive disease in which the growth and development of selective neuronal populations is impaired. The disease is the result of a point mutation in the gene sequence that encodes for kinase complex associated protein (IKAP) in chromosome 9q31. The mutation, at the start of the non-encoding intron 20, weakens the splice site, causing the spliceosome to wrongly join together exons 19 and 21 when transcribing the mRNA strand and miss out exon 20. The mutated mRNA produces a short unstable IKAP protein that is quickly degraded. Interestingly, the mutation does not lead to a complete loss of function. Instead, it results in a tissue specific deficiency in splicing efficiency with both normal (wild type) and mutant IKAP mRNA being expressed in different ratios in different tissues. Some cells, like fibroblasts, produce mostly normal mRNA and protein, where as others, like neurons, produce mostly mutant mRNA and almost no functional protein product.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer. This study aims to pilot the website to find out whether it is effective and to learn what the investigators can improve. Participants in the study will be assigned to one of two conditions: 1. Standard in-person genetic counselling session to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. Participants will fill out two short questionnaires, one before and one after the genetic counselling session. They will then be given a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre. 2. Use of a web-based pre-test genetic counselling tool to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. They will fill out two short questionnaires, one before, and one after using the web-based tool. They will then be electronically sent a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre. In both conditions, genetic test results will be communicated by telephone once they are available. Participants' genetic test results will not be used in any way for the study.