Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford...
Rare DisordersUndiagnosed Disorders316 moreCoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
Mainz Register of Patients With Sleep Disorders
Sleep DisorderSleep Disorder Parasomnia7 moreProspective longitudinal observational registry study of all patients with sleep disorders treated in the Mainz Comprehensive Epilepsy and Sleep Medicine Center with the focus on the course of the disease and quality of life.
Child and Adolescent Registry for Participants With Narcolepsy
NarcolepsyCATNAP is a patient registry designed to improve the understanding of the natural history of narcolepsy in pediatric patients. Descriptive statistics on disease characteristics will be performed. The study has 16 active clinical sites and a virtual site that widens participation to anywhere in the United States. For more information about the study or to access the Online Patient Enrollment System, visit the CATNAP website: https://catnap.healthie.net/welcome or email catnap@pulseinfoframe.com. The Online Patient Enrollment System, CATNAP website, can also be found in the references section.
Feasibility Study of At-Home EEG Monitoring for Hypersomnia
HypersomniaNarcolepsyThe central hypothesis is that home EEG monitoring (Dream 3 wearable) can be feasibly utilized for data capture of continuous sleep and wake measurements for the diagnostic evaluation and treatment monitoring of hypersomnia.
A Study of TAK-994 in Adults With Type 1 and Type 2 Narcolepsy
Narcolepsy Type 1 (NT1)Narcolepsy Type 2 (NT2)The main aims of the study are: To check for side effects from TAK-994 and check what dose of TAK-994 participants can tolerate. To check what dose range provides adequate relief of narcolepsy symptoms. To check how much TAK-994 stays in the blood of participants, over time. The study will have 4 parts. Participants can only join 1 of the parts. A. Participants with type 1 narcolepsy will take either TAK-994 or placebo tablets for 28 days. A placebo looks just like TAK-994 but will not have any medicine in it. B. Participants with type 1 narcolepsy will take 1 of 3 doses of TAK-994 or placebo tablets for 56 days. C. Participants with type 1 narcolepsy in China only will take TAK-994 or placebo tablets for 56 days. D. Participants with type 2 narcolepsy will take either TAK-994 or placebo tablets for 28 days.
A Study of TAK-994 in Adults With Narcolepsy
Narcolepsy Type 1 (NT 1)Adults with narcolepsy who have completed the TAK-994-1501 study will be able to take part in this study. The main aim of this study is to check if participants have side effects from TAK-994. Participants will take one of 3 different TAK-994 dose for 8 weeks. Then, half the participants will continue with their dose of TAK-994 and half will take a placebo. In this study, a placebo will look like a TAK-994 tablet but will not have any medicine in it. Participants will take TAK-994 or placebo for 4 weeks. Participants will visit the clinic for a final check-up 2 weeks after their last dose of TAK-994 or placebo. The study doctors will check for side effects from TAK-994 and placebo throughout the study. Participants will continue to record any narcolepsy symptoms as they did in Part B of the TAK 994-1501 study.
Effectiveness Of The Drug GSK189254 In Treating Patients With Narcolepsy
NarcolepsyThe purpose of this study is to assess the effectiveness and safety of the drug GSK189254 in treating patients with narcolepsy.
Spectrometry (MRM) Versus I 125 Radioimmunoassay (RIA) for Quantification of Orexin-A of Patients...
NarcolepsyIdiopathic Hypersomnia1 moreIn humans, selective loss of orexin neurons is responsible for type 1 narcolepsy (NT1), or narcolepsy with cataplexy, or orexin deficiency syndrome. The International Classification of Sleep Disorders 3rd edition (ICSD-3) distinguishes between hypersomnolence of central origin: NT1, narcolepsy type 2 (NT2), or narcolepsy without cataplexy, and idiopathic hypersomnia (HI). These rare conditions are all characterised by hypersomnolence (excessive daytime sleepiness, or excessive need for sleep), which is the primary and often most disabling symptom. A level of ORX-A in cerebrospinal fluid (CSF) (<110 pg/mL) is a very sensitive and specific biomarker of NT1, currently sufficient for the diagnosis of this condition. In contrast, ORX neurons are thought to be intact in IH and NT2, and the pathophysiological mechanisms underlying these diseases remain unknown. Thus, their diagnosis is based solely on clinical and electrophysiological criteria. The objective of this project is to determine the validity of a mass spectrometric technique for the determination of ORX-A in the cerebral spinal fluid of patients suffering from hypersomnolence in comparison with the radioimmunoassay which is the reference technique.
Contribution of 7 Tesla MRI of the Hypothalamus in the Diagnosis of Type 1 Narcolepsy
Narcolepsy Type 1This study is part of the research on type 1 narcolepsy, a neurological pathology affecting mostly young subjects. The only biomarker currently available is the hypocretin assay, which shows a level below 110 pg/mL. However, the interpretation of this biomarker has limitations: the test is not widely available and it is rarely performed by practitioners. Even when performed, the interpretation of the level may not be consistent with the phenotype compatible with type 1 narcolepsy. This study therefore aims to develop new tools to reduce the diagnostic delay. This would be the first study with 7T MRI that could achieve a level of spatial resolution sufficient to highlight volume changes in small brain structures such as the lateral hypothalamus whose narcolepsy-induced changes are not detected by lower resolution MRI.
The Value of Combined Detection of Orexin-A, HLA Gene, PSG and MSLT in the Evaluation of Patients...
NarcolepsyBy comparing the differences of orexin-A, HLA gene, PSG, MSLT and other parameters in the evaluation of narcolepsy patients, investigators could find out the relatively high value indicators in the diagnosis of narcolepsy, which is helpful to guide the clinical discovery, diagnosis and treatment of narcolepsy.