I am looking for a disease state, for the purpose of creating a seminar for my department's students. I need some specific parameters to make the concept work. The factors are: A- no current instrument for patient reported outcomes (HRQoL) exists but there is a need for one; B- the disease state has an active and effective patient support organization (PAH is a good example) and C- the organization has an established website with a meaningful, of patient visitors. Together, these usually mean a rare or "orphan" disease. The project will be to create the instrument for the use of the clinical and patient community, as an exercise for the students.
I might suggest Kallmann syndrome/congenital hypogonadotropic hypogonadism. There are several age-related hypogonadism instruments but these are not specific for this orphan disease patient group - see Langham et al. in J Sex Med. 2008 Dec;5(12):2842-52. If you and your students pursue this, please let me know as it is an active area of my research and I would be very interested.
ALS meets these criteria, but there are opportunity costs for the time and physical effort entailed in data collection. Patients and caregivers would rightly ask what's in it for them. High-burden diseases for which we lack even moderately efficacious therapy, unlike the two above, will all fall into this category, because things haven't gone far enough to warrant PROs as endpoints.
I give this negative answer only to point out the huge gap between much QoL research and the real sufferer world, and encourage those of you doing QoL to earn impact at the point of care.
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