Rare Diseases (Rare Disease)

A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
Also Known As:
Rare Disease; Orphan Diseases; Disease, Rare; Disease, Orphan; Orphan Disease
Networked: 4958 relevant articles (167 outcomes, 369 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neoplasms (Cancer)
2. Rare Diseases (Rare Disease)
3. Vasculitis (Vasculitides)
4. BCR-ABL Positive Chronic Myelogenous Leukemia (Chronic Myelogenous Leukemia)
5. Carcinoma (Carcinomatosis)


1. Boycott, Kym M: 15 articles (01/2022 - 06/2012)
2. Groft, Stephen C: 12 articles (10/2021 - 11/2007)
3. Lochmüller, Hanns: 11 articles (01/2018 - 09/2009)
4. Taruscio, Domenica: 10 articles (05/2022 - 01/2011)
5. Ekins, Sean: 10 articles (04/2022 - 04/2011)
6. Ferlini, Alessandra: 9 articles (01/2022 - 01/2013)
7. Baynam, Gareth: 9 articles (01/2021 - 01/2017)
8. Santucci, Annalisa: 8 articles (01/2021 - 11/2012)
9. Austin, Christopher P: 8 articles (01/2020 - 12/2016)
10. Johnson, Simon R: 8 articles (12/2018 - 04/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rare Diseases:
1. Biomarkers (Surrogate Marker)IBA
2. Proteins (Proteins, Gene)FDA Link
3. Complement System Proteins (Complement)IBA
4. Immunoglobulins (Immunoglobulin)IBA
5. SteroidsIBA
6. VaccinesIBA
01/29/2011 - "Safe and effective adjuvants are needed for many vaccines with limited commercial appeal, such as vaccines to infrequent (orphan) diseases or to neglected and poverty-related diseases. "
09/02/2021 - "For illustration, we develop a Poisson approach for an idealized design under a rare disease assumption and then use a proportional hazards modeling to better reflect the complexities of field trials with staggered entry, crossover, and smoothly varying strain specific vaccine efficacy We evaluate these by theoretical work and simulations, and demonstrate that useful estimation of the efficacy profile is possible for strains that emerge after vaccination of the placebo group. "
10/01/2019 - "Trials that were excluded were as follows: those conducted on rare diseases; conducted on healthy volunteers (except those assessing vaccines); masked (single-, double-blind) trials; single-center trials; those where one could expect to lead patients to prefer one intervention over the other; and miscellaneous reasons. "
01/01/2017 - "While they can be used to study many diseases, they are particularly valuable for rare diseases, small populations, studies involving terminal illnesses, and vaccine trials, in which it is important to find efficient ways to bring effective treatments to market more rapidly. "
11/07/2013 - "These studies are also uncommon in IBD because it would be difficult to perform a study that assess the prevalence of one rare disease (vaccine-preventable) in patients with a chronic rare condition, such as IBD. "
7. SolutionsIBA
8. Adrenal Cortex Hormones (Corticosteroids)IBA
9. eculizumabFDA Link
10. Oxygen (Dioxygen)IBA

Therapies and Procedures

1. Therapeutics
2. Drug Therapy (Chemotherapy)
3. Radiotherapy
4. Precision Medicine
5. Genomic Medicine