Table 1 Comparison of key descriptive characteristics pertaining to rare diseases and space health.

Definition

A disease that affects a small proportion of the population

A branch of research dedicated to supporting human physiological, biological, and psychological health during and after space flight

Sample sizes

Europe: <1 in 2000¹⁵; US: 200,000 at a time (total)¹⁵; Canada: <5 in 10,000 (proposed)⁷⁹; Australia: <2000 people (total)⁷⁹

However, rare diseases in aggregate affect 300 million people worldwide³

^aReached the altitude of space (FAI definition): 596^2,36

Reached the altitude of space (USAF definition): 609^2,36

Reached Earth Orbit: 579^2,36

Sample size composition

69.9% of rare diseases have pediatric onset³¹

Certain population groups may be more at risk for some rare diseases than others (i.e., Ashkenazi Jewish population and Tay-Sachs)¹⁵

89% of space travellers were male³⁶

11% of space travellers were female³⁶

Demographics are becoming more diverse—The 2020 NASA and CSA class of astronauts included 6 women (5 NASA, 1 CSA) and 7 men (6 NASA, 1 CSA) with 5 of the astronauts being people of color (5 NASA)⁸⁰.

Civilian commercial spaceflight will likely increase the diversity and number of samples.

Alternative trial designs

^aRandomized-control trial SMARTs

^aN-of-1

^aCase-control

^aRandomized-control trial

^aN-of-1

^aCase-control

Genetic testing

Yes—71.9% of rare diseases have a genetic basis³¹

Genetic testing currently precluded from screening measures

Countermeasures

No

Yes (exercise, medication, etc.)

Resource funding

Non-profit, government funding, private investors, research grants

Primarily national space agencies