Rare Disease Expertise

• Regulatory strategy for orphan drug development programs
• Agency meetings, including preparation of briefing materials and meeting attendance
• Orphan applications and annual report preparation, including literature search and summarization, as well as the use of alternate data sources to show disease prevalence
• Clinical and statistical review of data supporting rare disease indications, including non-traditional sources like longitudinal or EMR data and RWE/RWD

Experts at MMS have completed several groundbreaking submissions over the past decade including the first approval in over a decade and the first approval in the United States for sickle cell disease in a pediatric population, and an original orphan drug application for treatment of progressive supranuclear palsy approved by the FDA.

We continue to work on many additional rare disease indications, including:

• Duchenne Muscular Dystrophy
• Myasthenia Gravis
• Doose Syndrome
• Prader Willi Syndrome
• Sickle Cell Anemia
• Thymidine Kinase 2 Deficiency
• Still’s Disease
• Fetal and Neonatal Alloimmune
• Thrombocytopenia (FNAIT)
• Chronic Atypical Neutrophilic
• Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE)
• Clear Cell Sarcoma
• Many others

We are adding to this list every day. To find out more about a specific indication, please contact us.

Regulatory strategists at MMS are experts in interacting with global health authorities and developing strategies for advancing programs by applying knowledge gained from other rare disease implications.

For instance, we:

• Establish strong relationships and clear communication with the FDA, paving the way for flexibility given the unique challenges of rare disease programs
• Provide a rationale for the use of biomarkers in early phase investigations
• Recommend innovative clinical trial designs and strategies to address low patient numbers
• Build innovative strategies to address limited understanding of disease pathology and progression, variability in disease presentation, and a lack of established endpoints
• Advise and guide strategy for non-clinical research and data presentation