RARE DISEASES

PROMETRIKA is proud to work with many companies that focus on developing treatments for rare diseases, defined by the FDA as a condition afflicting fewer than 200,000 patients. Rare diseases impact over 30 million people in the U.S. today, 50% of whom are children. Our role ranges from full-service partner to preferred provider of specific functional services. We have experience in rare disease clinical trials that includes more than 100 studies in a broad range of indications, including:

Expertise in
50 +
Rare Diseases
  • + 3 Autoimmune Diseases
    • Hereditary Angioedema (HAE)
    • Lupus
    • Neuromyelitis Optica Spectrum Disorder (NMO)
  • + 6 Rare Cancers
    • Acute Lymphoblastic Leukemia (ALL)
    • Acute Myelodysplastic Leukemia (MDS)
    • Acute Myeloid Leukemia (AML)
    • Myelofibrosis
    • Neuroblastoma
    • Sarcoma/Soft Tissue Sarcoma
  • + 12 Nervous System Diseases
    • Angelman Syndrome
    • Batten Disease
    • Dravet Syndrome
    • Duchenne Muscular Dystrophy
    • Grin Disorder
    • Hereditary Transthyretin Amyloidosis with Polyneuropathy (ATTRV-PN)
    • Huntington’s Disease
    • Refractory Focal Epilepsy
    • TCF4 (Pitt-Hopkins Syndrome)
    • Tuberos Sclerosis Complex (TSC) / FOCAL Critical Dysplasia (FCD)
    • Tay-Sachs Disease
    • WWOX
  • + 17 Metabolic Disorders
    • ENPP1 Deficiency
    • Erythropoietic Protoporphyria (EPP)
    • Farber's Disease
    • Gaucher Type 1
    • GM2 Gangliosidosis
    • Hereditary Transthyretin Amyloidosis with Polyneuropathy (ATTRV-PN)
    • Hunter Syndrome (Mucopolysaccharidosis II, MPS II)
    • Long-chain Fatty Acid Oxidation Disorders
    • Methylmalonic Acidemia
    • Mucopolysaccharidosis I (MPS I)
    • Niemann-Pick Disease
    • Non-alcoholic Steatohepatitis (NASH)
    • Phenylketonuria (PKU)
    • Pompe Disease
    • Propionic Acidemia
    • Sandhoff Disease
    • Sanfilippo Syndrome (Mucopolysaccharidosis III, MPS-III)
  • + 3 Blood Diseases
    • Arginase Deficiency
    • Bleeding disorders
    • Sickle Cell Disease
  • + 3 Chromosome Disorders
    • 15q Duplication Syndrome
    • Fragile X Syndrome
    • Pearson Syndrome
  • + 1 Respiratory
    • Alpha-1 antitrypsin deficiency (AAD)
  • + 11 Kidney and Urinary Diseases
    • Alport Syndrome
    • Autosomal Dominant Polycystic Kidney Disease
    • Chronic Kidney Disease (CKD)
    • Fabry Disease
    • Focal Segmental Glomerulosclerosis (FSGS)
    • IgAN
    • Immunoglobulin A Nephropathy
    • Interstitial Cystitis/Bladder Pain Syndrome
    • Kidney Transplant
    • Pheochromocytoma and Paraganglioma
    • Proteinuria
  • + 1 Endocrinology
    • Mannose-1-phosphate replacement therapy
  • EXPERIENCE IN OVER
    100 + studies
  • RARE DISEASES IMPACT
    30 million
    PEOPLE IN THE US
  • CHILDREN MAKE UP
    50 %
    of patients
  • Number of NDAs
    4

Benefits of Working with a CRO Experienced in Rare Disease Clinical Trials

With such a large number of rare diseases, each exhibiting a unique set of symptoms and challenges, CROs involved in clinical trials cannot rely on disease-specific knowledge alone. They must excel in problem solving and provide world-class customer service. PROMETRIKA’s model of project teams led by seasoned experts, along with its focus on flexibility and attentiveness, provides the perfect fit for clinical development of rare disease programs.

Our expertise working under challenging research conditions helps us achieve exceptional outcomes. We are well-versed in consulting with advocacy groups in order to develop patient-centric strategies, devising statistical methodologies to accommodate low sample sizes, and combining knowledge from natural history studies with data from clinical trials. PROMETRIKA’s experience in over 85 rare disease studies, as well as the cohesion of team members that have collaborated on clinical trials for decades, puts us in a perfect position to help make your rare disease development program a success.

Rare disease image montage

Prometrika team at work

Rare disease clinical trials pose several unique challenges:

  • Small patient populations impact recruitment rates and result in longer development timelines
  • Highly-heterogeneous collection of symptoms with variable phenotypes that can affect patients differently and make it difficult to define endpoints
  • Rare diseases are generally not well-understood and there is a dearth of natural history data needed for study design
  • Most are serious or life-threatening, and most patients have uniquely-specific unmet medical needs
  • There are few disease-specific outcome assessment tools available
  • Many rare diseases affect children, which introduces additional ethical and operational considerations
  • Researchers and patients are often geographically dispersed
  • Patient retention is more difficult due to issues like longer travel distances imposing greater burdens on patients and families