Rare Disease Research

We are attending the "Celebrating Rare Disease Day with Jett Foundation" virtual event. Join us! #RareDiseaseDay #JettFoundation #RareDiseaseResearch #RDR #DMD #Duchenne

Support Local Artist Living with Duchenne Muscular Dystrophy We invite you to support one of our patients with his fundraiser campaign. He has created the Limited Edition "The Needle King" Original clothing collection. By supporting his work you're promoting his art and sharing a piece of his story. To learn more about his story and to support his campaign, click the following link: https://www.customink.com//liam-agans-the-needle-king-orig

We wish you a Happy New Year!!! The Rare Disease Research family celebrates the start of 2021. May this new year bring us many opportunities to continue serving the rare disease community. #Research #ClinicalTrials #RareDiseases #AccessForAll #PatientsFirst #Cures #Treatments

Rare Disease Research Investigator-Sponsored Trial Treats First Patient It is with great pleasure and enthusiasm that we at Rare Disease Research announce the enrollment of the first patient in our Investigator-Sponsored Trial for boys with Duchenne muscular dystrophy. The phase 4 trial entitled An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients with Duchenne Muscular Dystrophy seeks to enroll 12 non-ambulant subjects, 7 years of age or older,... with a confirmed genetic mutation amenable to treatment by exon 53 skipping. Patients will receive weekly infusions of golodirsen, an FDA-approved therapy for ambulant subjects with mutations amenable to exon 53 skipping. We are excited to bring this study to all eligible patients. It is our goal to facilitate access to investigational treatments while aiding in cutting-edge research. For more information, contact us at: Rare Disease Research, LLC Study Coordinator: Sarah Mackett P: 678-883-6897 E: [email protected] #clinicalresearch #clinicaltrials #rarediseases #RAREDISEASERESEARCH #RDR #duchennemusculardystrophy #DMD

Dear RDR patients and families, We are thrilled to report that GeneTx Biotherapeutics and Ultragenyx Pharmaceutical have announced positive interim data for the phase 1/2 trial of GTX-102, a novel investigational treatment for Angelman syndrome. Earlier this year, the dose-escalation study was halted following observation of severe adverse events involving lower extremity weakness at the highest doses in its first five patients. This side-effect receded within a matter of wee...ks, and all patients experienced significant and sustained improvements in at least two domains of the Clinical Global Impression of Improvement Scale for Angelman Syndrome (CGI-AS) at day 128. The study will seek FDA approval for continuation after making a protocol amendment, including revisions to the drug administration and dosing. Following this, they plan to resume recruitment and dosing in the observed safe range at which clinical improvement was experienced. Please use the following link to access the full press release: https://ir.ultragenyx.com//genetx-and-ultragenyx-announce- #RAREDISEASERESEARCH #RDR #angelmansyndrome #clinicalresearch #clinicaltrials #GeneTx #Ultragenyx

Clinical study for the treatment of Dyskinesia in Cerebral Palsy available at Rare Disease Research in Atlanta, GA. Visit our website for additional information. #clinicalresearch #clinicaltrial #cerebralpalsy #CP #RDR #dyskinesia

We want to extend our sincerest gratitude to all of our patients in the recent PolarisDMD and GalaxyDMD trials of edasalonexent for Duchenne muscular dystrophy. We are dismayed to report thatupon analysis of data from the year-long studyCatabasis has discontinued development of the drug. Unfortunately, over a year of treatment, patients receiving the drug did not experience significant improvements compared to placebo. On average, there were no significant changes from bas...eline on the North Star Ambulatory Assessment (NSAA, and primary endpoint of the PolarisDMD study), in various timed function tests, or in muscle enzymes and heart rate. Acknowledging this difficult news, at Rare Disease Research we strive to continue providing resources and support for all patients and families affected. Read the official statement here: https://www.catabasis.com/Catabasis-Connection-PolarisDMD-T

Givinostat Receives Rare Pediatric Disease Designation, as EPIDYS Trial Completes Enrollment We are excited to share that Italfarmaco’s drug givinostat has recently received official Rare Pediatric Disease Designation from the FDA, granting Italfarmaco accelerated regulatory review for the drug and marketing benefits upon its approval. In phase 2 trials, givinostat appeared to significantly improve muscle mass and reduce scar tissue among patients with Duchenne Muscular Dystr...ophy when administered alongside corticosteroids. Despite delays in recruitment due to the pandemic, the phase 3 trial called EPIDYS is now fully enrolled and will assess the drug’s ability to slow disease progression. Rare Disease Research is one of the 42 testing sites throughout the US, Canada, and Europe participating in the EPIDYS study. #raredisease #DMD #givinostat #PPMD #CureDuchenne #RDR #RareDiseaseResearch

Clinical study for the treatment of Dravet Syndrome available at Rare Disease Research! Rare Disease Research is conducting a clinical study investigating the efficacy of orally administered Lorcaserin as adjunctive treatment in subjects with Dravet Syndrome. The study will assess the percent change in frequency of convulsive seizures when compared to placebo. Contact us if you are interested in learning more about this study and if you meet the following requirements: ... Male or Female, 2 years of age or older Confirmed diagnosis of epilepsy with Dravet syndrome Have had at least 4 convulsive seizures during the 4 weeks of screening for the study Currently taking at least 1 antiepileptic drug on a stable dose for at least 4 weeks before study screening Have NOT used lorcaserin within 4 weeks before screening for the study You can contact us directly for additional study specific information. Contact us: P: 678 - 883 - 6897 E: [email protected]