Rare Diseases and Expanded Access Programs
A rare disease is defined as a condition that affects less than 200,000 individuals in the US, and less than five in 10,000 individuals in the EU (approximately 245,000 individuals). Globally, it is estimated that there are 5,000-7,000 rare diseases. In Europe and in the US, more than 55 million people are reported to suffer from a rare disease.
Drug development for rare diseases is problematic due to:
- Very small patient populations
- Severity of diseases in these patient populations
- Difficulty of running sufficiently powered clinical trials
- Limited information on drug efficacy and safety at time of drug approval
- Unmet patient need may necessitate product use pre-approval
- Need for additional observational data both pre- and post-launch
- Rare-disease registries
- Expanded access program/compassionate-use study
- Post-marketing effectiveness and safety observational studies
Expanded Access Programs (EAP)
EAPs are intended to improve access to investigational drugs for patients with serious or immediately life-threatening diseases, or conditions which do not have comparable or satisfactory alternative therapies to treat the disease or condition.
- Enables these patients to access products that are still in development for treatment purposes
- Generally implemented after evaluation of Phase III data and prior to product approval (i.e. under an IND)
- Provides access to investigational products outside of a clinical trial, thus:
- Not likely to describe efficacy
- Not likely to support marketing applications
- Contrast with investigational drug in a clinical trial where the primary intent is research (systematic collection of data with the intent to analyze it to learn about the drug)
In the US there are three types of expanded access considered on a case-by-case basis:
- Single patient (Emergency-use IND). Individual patient use may be used to provide treatment for individual patients where the treating physician has determined that the risk of treatment is not greater than the risk of the disease/condition.
- The patient must not be eligible to get the investigational product under another IND or protocol.
- Intermediate size (<100)
- Small groups of patients with similar treatment needs
- For patients who do not otherwise qualify to participate in a clinical trial
- Treatment protocol
- Experimental drugs showing promise in clinical testing for serious or life-threatening conditions while final clinical work is conducted and FDA review takes place
In the EU there are two types of expanded access:
EAPs concerns a group or sub-group of patients, treated and supervised according to perfectly defined criteria in a protocol for therapeutic use and information collection. It is also called cohort systems or cohort access.
Named-Patient Programs (NPP): allows accessing of unlicensed medicines on a patient-by-patient basis, with various denominations depending on the country: single-patient access, individual-patient supply or nominative access.
EAP Patient Benefits
- Can provide access to patients with serous/life-threatening diseases who have no other alternative, and may accept greater risks
- Can provide patients some autonomy over their own healthcare decisions
- The treatment IND can help bridge the gap between the latter stages of product development and approval by making a drug widely available during that period
- Expanded access use can help foster development of additional uses of a drug (e.g., from anecdotal evidence of benefit in a disease other than that being studied)
- May offer hope for patients with no other available options e.g., too ill or don’t qualify for a clinical trial.
EAP Sponsor Benefits
- Pre-launch product visibility
- Additional real-life data, (e.g., interactions and side effects)
- Early physician, pharmacy, patient and advocacy engagement and acceptance of product
- Improved safety warnings and recommendations for use
- Support reimbursement and health-technology assessments
Mapi provides services to conduct the following types of studies for rare diseases:
- Rare-disease patient registries in the pre-, peri-, and post-approval phases of product development
- Post-Marketing Requirement Studies (PMR)
- Post-Authorisation Safety Studies (PASS)
- Expanded Access Programs (EAP)
- Market Access