# Rare Disease Research

Rare Disease Research (RDR) is an independent U.S. clinical research site network that specializes in the conduct of Phase I-IV clinical trials for rare disease indications. RDR specializes in pediatric clinical trials away from the hospital environment and has completed more than 50 clinical trials in multiple rare diseases, including neuromuscular and neurodegenerative disorders, inborn errors of metabolism, lysosomal storage disorders, and mitochondrial disorders.

## History

Established in 2017, RDR is headed by Han C. Phan, a sleep specialist and pediatric neurologist. RDR's three clinical trial sites in North Carolina (Raleigh-Durham), Georgia (Atlanta), and Florida (Orlando) are led by clinical investigators with medical specialties in Pediatric Neurology, Pediatric Emergency Medicine and Pediatric Cardiology.
In addition to its contribution toward the FDA approval of five therapies to date, RDR has more than 50 clinical trials in the active or beginning phases and accepts patients from all over the United States, and, in many but not all clinical trials, also patients from other countries.
Clinical trial principal investigators affiliated with RDR include the pediatricians Edward Smith, Renata Shih, Anthony Giordano, and Scott Batchelor.

## Clinical trial indications

RDR conducts clinical trials in therapeutic areas, including:
* Neurological indications
** Becker muscular dystrophy
** CDKL5 deficiency disorder
** Cerebral palsy
** Chromosome 15 duplicate syndrome
** Dravet syndrome
** Duchenne muscular dystrophy (DMD)
** Myotonic dystrophy
** Lennox–Gastaut syndrome (LGS)
** Limb–girdle muscular dystrophies
** Myasthenia gravis
** Spinal muscular atrophy (SMA)
** Facioscapulohumeral muscular dystrophy (FSHD)
** Angelman syndrome
** Fragile X syndrome
** Pediatric migraine
** Prader–Willi syndrome
** Tourette's syndrome
** Metachromatic leukodystrophy (MLD)
** Pediatric epilepsy
* Lysosomal storage indications
** Fabry disease
** Niemann–Pick Type C
** Tay–Sachs disease
** Pompe disease
* Metabolic disorders
** Phenylketonuria (PKU)
** MCT8 deficiency
* Mitochondrial disorders
** Primary mitochondrial myopathy
** Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

## Clinical trial sites

RDR has three sites in the U.S., each staffed by physicians, pharmacists, nurses, physical therapists, and other personnel. Each site includes electrocardiography, spirometry, and sonography capabilities, physical therapy facilities and equipment accommodating a six-minute walk test (6MWT), stair-climb test and other study assessments. In addition, each site has an onsite lab for processing lab samples, an affiliated pediatric research home health service, and a research compounding pharmacy with a controlled mixing environment and storage for refrigerated and room-temperature investigational intravenous, intrathecal or oral products, including for gene therapies.
RDR relies on central institutional review board (IRB) services to facilitate first subject enrollment within 30-60 days from the beginning of the study date. In addition, RDR coordinates with local providers to offer clinical research services that include various imaging modalities, ophthalmology, psychology and sedation services, and access to local diagnostic laboratories.

## Partnerships

RDR partners with various contract research organizations (CROs). It is a member of PPD Site Select, PPD Pediatric Investigator Network, Parexel Site Alliance, and works closely with Syneos Health, IQVIA, Worldwide Clinical Trials, Medpace, and many other CROs.
RDR also collaborates with various patient advocacy organizations, including Parent Project Muscular Dystrophy, the Muscular Dystrophy Association, Cure SMA, Friedreich's Ataxia Research Alliance, CureDuchenne, the FSHD Society, the Prader-Willi Syndrome Association, Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, Cure VCP, the Jett Foundation, EveryLife Foundation for Rare Diseases, United Mitochondrial Disease Foundation, and many others.