ReviewExpert opinion on pharmacotherapy2014
Current treatments in familial dysautonomia.
Review in Expert opinion on pharmacotherapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02553265 (Carbidopa in Familial Dysautonomia), which is not on this map. Cited by 38 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Carbidopa in Familial Dysautonomia: Phase-II Study, Investigational New Drug (IND) 117435, Date: 01/07/13
Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.Respiratory medicine · 2018Pooled it
- Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial.Hypertension (Dallas, Tex. : 1979) · 2020Trial
- Trial
- Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.Science translational medicine · 2024Article
- Possible Role of Fibrinaloid Microclots in Postural Orthostatic Tachycardia Syndrome (POTS): Focus on Long COVID.Journal of personalized medicine · 2024Article
- Sensorimotor control in the congenital absence of functional muscle spindles.Experimental physiology · 2024Review
- Meropenem-Induced Facial Myoclonus.Movement disorders clinical practice · 2023Article
- Familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2023Review
- A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations.Metabolites · 2023Article
- Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia.Nature communications · 2023Article
- Article
- Dry eye syndrome: comprehensive etiologies and recent clinical trials.International ophthalmology · 2022Review
- Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.American journal of human genetics · 2022Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Elp1 is required for development of visceral sensory peripheral and central circuitry.Disease models & mechanisms · 2022Article
- Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Development of the Autonomic Nervous System: Clinical Implications.Seminars in neurology · 2020Review
- Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Article
- Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.Autonomic neuroscience : basic & clinical · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
introductionFamilial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (type III). The disease is caused by a point mutation in the IKBKAP gene that affects the splicing of the elongator-1 protein (ELP-1) (also known as IKAP). Patients have dramatic blood pressure instability due to baroreflex failure, chronic kidney disease, and impaired swallowing leading to recurrent aspiration pneumonia, which results in chronic lung disease. Diminished pain and temperature perception result in neuropathic joints and thermal injuries. Impaired proprioception leads to gait ataxia. Optic neuropathy and corneal opacities lead to progressive visual loss. AREAS COVERED: This article reviews current therapeutic strategies for the symptomatic treatment of FD, as well as the potential of new gene-modifying agents. EXPERT OPINION: Therapeutic focus on FD is centered on reducing the catecholamine surges caused by baroreflex failure. Managing neurogenic dysphagia with effective protection of the airway passages and prompt treatment of aspiration pneumonias is necessary to prevent respiratory failure. Sedative medications should be used cautiously due to the risk of respiratory depression. Non-invasive ventilation during sleep effectively manages apneas and prevents hypercapnia. Clinical trials of compounds that increase levels of IKAP (ELP-1) are underway and will determine whether they can reverse or slow disease progression.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.