Rare Disease Research

08/18/2025

Exciting update on cardiac safety in ! New data from Italfarmaco’s Phase 3 EPIDYS trial, presented at , shows givinostat led to less decline in heart function vs. placebo in ambulant boys with Duchenne, with no QTc prolongation. As a DMD cardiac expert, this reinforces givinostat’s potential to protect hearts amid progressive disease. Proud to highlight Dr. Han Phan as principal investigator for Italfarmaco in advancing this HDAC inhibitor. Full details: https://www.globenewswire.com/news-release/2025/07/11/3113828/0/en/Italfarmaco-Presents-New-Cardiac-Data-for-Givinostat-at-16th-European-Paediatric-Neurology-Society-EPNS-Congress.html?fbclid=IwdGRjcAMP80ZleHRuA2FlbQIxMQABHhYi-lG6DLGJvrDFI-VK9dptnV2v9bl0hEOm_lSaEQDmdgDfj1676o8nHTTB_aem_2981dGnzKPP0kzpTYZqy7A

In total, 11 abstracts on givinostat were accepted for presentation at the Congress, including two for an oral presentation MILAN, Italy, July...

08/12/2025

🎉 We’re Officially Open in New Jersey! 🎉

Rare Disease Research is proud to announce the grand opening of our newest clinical research site in Iselin, NJ!

Our NJ site is ready to welcome patients, collaborate with sponsors, and continue our commitment to innovation, patient-centered care, and advancing treatment options for rare diseases.

RDR–New Jersey: Because every trial is a step toward hope.

08/12/2025

We’re Officially Open in New Jersey! 🎉 Rare Disease Research is pleased to announce the grand opening of our newest clinical research site in Iselin, NJ, where we will collaborate with sponsors, welcome patients, and advance treatment options for rare diseases. Rare Disease Research

08/05/2025

A pivotal moment for RDR. Congratulations to Dr Renata Shih and the entire RDR research team to make this a success 🎉

Dosing the first patient in this clinical trial is a major milestone for the FSHD community. EPI-321 is the first therapeutic candidate designed to target the root cause of the disease. Gene silencing through epigenetic editing offers a potentially transformative approach to halting disease progression in FSHD,” said Dr. Shih - Principal Investigator at Rare Disease Research (RDR) in Atlanta.
This achievement reflects the outstanding teamwork and dedication of the entire RDR research staff and Epicrispr Biotechnologies team whose collaboration and commitment have been essential to advancing this important clinical trial.

We are deeply grateful to everyone involved for their invaluable contributions.

A pivotal moment for Congratulations to Renata Shih and the entire RDR research team to make this a success 🎉 Dosing the first patient in this clinical trial is a major milestone for the FSHD community. EPI-321 is the first therapeutic candidate designed to target the root cause of the disea...

07/29/2025

We’re expanding: Join us for the Grand Opening of RDR’s newest clinical research site in Iselin, NJ! 🎉

📍 When: Monday, August 11, 2025
🕑 Time: 2:00 PM – 5:00 PM ET

Meet Dr Ashutosh Kumar our Consulting Medical Director, triple board-certified in Pediatrics, Child Neurology & Epilepsy, and a leader in FDA-approved trials for Duchenne Muscular Dystrophy.

Explore our new space and connect with the team driving innovation in rare disease research.

Message us with any questions or to RSVP.

05/20/2025

Today is recognized globally as Clinical Trials Day—but for us, every day reflects that mission.

At our clinic today, as on so many others, we are privileged to welcome patients from around the world—many of whom are living with rare diseases and have limited treatment options. Through their participation in our trials, they are not only accessing potentially life-changing therapies but also helping to drive scientific progress for future patients.

This is the heart of our work: expanding access to innovative clinical trials for those who need them most.

Thank you to our patients and their family for their continued dedication, compassion, and commitment, your efforts are deeply meaningful and truly impactful.

05/09/2025

Honor to be at the French Consulate Anne-Laure Desjonquères residence to learn about the NETVA program (New Technology Venture Accelerator) is a French government initiative designed to support early-stage deeptech startups in their international expansion, particularly into the U.S. market.

It is part of La Synapse, a broader strategy led by the Office for Science and Technology of the French Embassy in the United States.

Renata Shih MD, Han Phan, MD, Miro Pastrnak, PhD.

04/15/2025

Do you or someone you know have Prader-Willi Syndrome (PWS)? Rare Disease Research , LLC has recently begun a clinical trial sponsored by the The Foundation for Prader-Willi Research, and we’re open for enrollment!

Please visit https://lnkd.in/en2QCDRK to learn more about the eligibility criteria and contact our research team.

Intake Form: https://docs.google.com/forms/d/e/1FAIpQLScnzfDNsGMS1Fqa_7dRQtYU8OCeddLCO3CUtGkCdiGw4F0Rfg/viewform

This link will take you to a page that’s not on LinkedIn

04/12/2025

NOW ENROLLING: BEACH301 Clinical Trial
In partnership with Tyra Biosciences, Rare Disease Research (RDR) is committed to advancing research and providing access to a new clinical trial for eligible children with achondroplasia.

Key Details:
Study Name: BEACH301 Achondroplasia (NCT06842355)
Ages: Children with achondroplasia, ages 3 to 10 years old
Purpose: Explore the safety, tolerability, growth, and health outcomes of TYRA-300

04/08/2025

Rare Disease Research (RDR) & Gooseberry Research (GBR) are sponsoring the World Orphan Drug Congress (WODC) in Boston, MA, from April 22-24! 🌟

This event brings together industry leaders and innovators to shape the future of rare disease treatments. We’re excited to connect, collaborate, and explore new opportunities within the orphan drug space.

Visit us at Exhibit #439 to learn more about the groundbreaking work we’re doing and how we can drive progress in the rare disease community together.

04/07/2025

It’s time — SCRS Include Summit is here!

Rare Disease Research, LLC (RDR) and Gooseberry Research (GBR) are live at Exhibit #4 — come say hi, learn about our work in rare disease, and grab some goodies while you’re at it!

04/04/2025

LLC, we're proud to be leading the way in pioneering clinical trials across our locations in Georgia, North Carolina, and Florida. Our dedication to advancing research and providing access to hope for patients is stronger than ever. 🌟

We’re currently recruiting participants for trials focused on these rare diseases:

Facioscapulohumeral Muscular Dystrophy (FSHD), Duchenne Muscular Dystrophy (DMD), MCT8 Deficiency / Allan-Herndon-Dudley Syndrome (AHDS), Achondroplasia (ACH), Prader-Willi Syndrome (PWS), Myotonic Dystrophy (DM1), Pediatric Migraines, Angelman Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), and Spinal Muscular Atrophy (SMA Type 3).

If you or someone you know might be eligible, please reach out using the contact info below-

Website - https://www.rarediseaseresearch.com/

Patient Intake Form -https://docs.google.com/forms/d/e/1FAIpQLScnzfDNsGMS1Fqa_7dRQtYU8OCeddLCO3CUtGkCdiGw4F0Rfg/viewform