Our goal for the RDCRC Administrative Unit is to provide an optimal environment to conduct carefully developed and monitored clinical and translational studies that will increase our knowledge about the causes of rare autonomic diseases, and facilitate the development of therapies than can make a significant difference in the lives of patients with these diseases. Ultimately we hope to be on a trajectory to find cures for them. Our consortium benefits greatly from the support of our patients and the Patient Advocate Group (PAG) community to gain insight into the needs and aspirations of that community from the patient's and the caregiver's perspective. The PIs of this RDCRC renewal have a long relationship with the PAGs. The initial PAG for Multiple System Atrophy (MSA) was founded by Dorothy Trainor-Kingsbury, Dr. Sterling Edwards, and Dr. Robertson in 1989. In the subsequent 25 years, there have been annual meetings for patients throughout the United States, and Dr. Robertson has served continuously on the board for this PAG, now known as the MSA Coalition. By attention to the perspective of the PAGs we can tailor our approaches toward both needs of patients and the science that can be addressed to yield the cures that we seek. The Administrative Unit brings RDCRC researchers, PAGs, and the ORDR onto common ground and enables us to work to find a cause and eventually an effective therapy for our patients. We also perceive that in an era of limited funding, we must share the responsibility, to the extent possible, of leveraging the support ORDR and NCATs can provide for the studies we need. In that context we have sought leveraging funds and, in the best current estimate, believe they will reach close to $1.5 million. The administrative structures we have in place should lead to successful biomarker and therapeutic investigations that will improve the health of our patients.
| Walsh, Ryan R; Krismer, Florian; Galpern, Wendy R et al. (2018) Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting. Neurology 90:74-82 |
| Kazachkov, Mikhail; Palma, Jose-Alberto; Norcliffe-Kaufmann, Lucy et al. (2018) Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Respir Med 141:37-46 |
| Aluma, Bat-El Bar; Norcliffe-Kaufmann, Lucy; Sarouk, Ifat et al. (2018) Resting Energy Expenditure in Patients with Familial Dysautonomia: A Preliminary Study. J Pediatr Gastroenterol Nutr : |
| Palma, Jose-Alberto; Mano, Tadaaki (2018) Central or peripheral autonomic dysfunction in Parkinson disease: Does it matter? Neurology 90:1045-1046 |
| Ogaki, Kotaro; Martens, Yuka A; Heckman, Michael G et al. (2018) Multiple system atrophy and apolipoprotein E. Mov Disord 33:647-650 |
| Palma, Jose-Alberto; Spalink, Christy; Barnes, Erin P et al. (2018) Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. Clin Auton Res 28:125-126 |
| Singh, Kanwaljit; Palma, Jose-Alberto; Kaufmann, Horacio et al. (2018) Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep Med 45:33-38 |
| Norcliffe-Kaufmann, Lucy; Galindo-Mendez, Brahyan; Garcia-Guarniz, Ana-Lucia et al. (2018) Transcranial Doppler in autonomic testing: standards and clinical applications. Clin Auton Res 28:187-202 |
| Mehr, Shahram E; Barbul, Adrian; Shibao, Cyndya A (2018) Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review. Clin Auton Res 28:411-421 |
| Wenning, Gregor; Trojanowski, John Q; Kaufmann, Horacio et al. (2018) Is multiple system atrophy an infectious disease? Ann Neurol 83:10-12 |
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