List of rare diseases in Human
The voices of rare disease patient advocates play a unique and critical role in the modernization of the clinical trials process, which advocates see as antiquated and unable to sufficiently address their unmet medical needs. A slogging, expensive regulatory burden has long held the enthusiasm of drug developers and investors in check. Since many rare diseases are progressive, debilitating, and fatal, time is of the essence.
In the 24 years since my son’s diagnosis with a rare disease, I’ve watched a series of drug approvals bring first-ever treatments for some, but there is a much bigger list of rare diseases with no FDA-approved treatment. NIH figures, widely quoted in 2013, indicate fewer than 500 drugs have been approved by the FDA for rare diseases. Yet there are 7, 000 classified rare diseases affecting 30 million Americans, plus their families, and many more around the globe. That is a lot of unmet medical need.
Positive results of rare disease advocacy can be hard to detect because positive change to the regulatory process can take years. Meanwhile, many die from untreated disease.
Science and advocacy have moved forward in giant steps in the last two decades. Biomedical research, including the mapping of the human genome, has transformed medicine. Advocacy groups have grown in number and sophistication. Communication between stakeholders including the FDA, legislators, advocates, and drug developers is more collaborative.
Rare disease advocates have long been engaged in a tug of war between speed and safety. In 1962, the drug development process was seen as too fast because of the thalidomide disaster, in which a drug intended to relieve morning sickness caused birth defects. In response, the Kefauver Harris Amendment mandated more rigid testing, statistical proofs and the informed consent of patients. During the AIDS epidemic in 1983, however, drug development moved too slowly as the disease caused alarm, was not well understood, and no treatments existed. In response, the Orphan Drug Act passed and other changes were made to speed up drug development for rare diseases. Then, the 2002 Rare Disease Act helped establish a national agenda and priorities for rare disease research.
In January of 2000, I went with two other fathers, as parent patient advocates, to the FDA and walked them through an agenda listing the nine things we believed they were doing wrong, and the six things we wanted them to do. The FDA officials agreed with us, and I saw some change. A key issue in that meeting was the FDA’s lack of sufficient problem-solving communication with drug sponsors during a clinical trial: so much time passed between their meetings, and so much was left unsaid between FDA and drug developer, while many data submissions were rejected as inadequate. We patient advocates were not debating the science with them; our issue was the communication and resulting waste of precious time. We wanted the FDA to be interactive with drug developers. We wanted them to align around the data to be collected and analyzed in order to increase, and speed up, drug approvals.
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What is a very rare disease that affects humans?
spider venom bitez... sumtimez they kill, other times they jus deform u in sum way... ppl in tropical lands or deserts are most likely to get it...but since the venomous spiders are not that common, the disease is just as rare.