Breakthrough Clinical Results
Fujirebio Diagnostics, a subsidiary of Fujirebio Holdings, Inc., has acquired Plasma Services Group, Inc., a provider of high-quality biological materials for the in vitro diagnostics (IVD) and life science industries. Plasma Services Group specializes in collecting, screening, and supplying rare biological materials, particularly for rare diseases. The acquisition will strengthen Fujirebio's position as a CDMO partner, offering synergies in rare samples and biological materials. Both companies emphasize their commitment to quality and customer service.
Key Highlights
- Fujirebio acquired Plasma Services Group, a supplier of high-quality biological materials.
- Plasma Services Group specializes in rare biological materials for IVD and life science research.
- The acquisition strengthens Fujirebio's position as a CDMO partner.
- Both companies emphasize their commitment to quality and customer service.
Risk Factors and Comorbidities
Risk Factors and Comorbidities for Rare Diseases
Top Risk Factors and Comorbidities for Rare Diseases
Genetic Factors
- Genetic predisposition is a major risk factor for many rare diseases
- Familial clustering indicates a significant role for genetic factors in diseases like systemic sclerosis
-
Several specific genetic mutations have been identified:
-
ABCC6 gene mutations responsible for pseudoxanthoma elasticum
-
33 known genes associated with Primary ciliary dyskinesia (PCD)
-
BRCA1/2 mutations associated with increased risk of ovarian cancer
-
Biallelic mutations in the EIF2AK4 gene causing heritable Pulmonary veno-occlusive disease (PVOD)
-
GNRH1 gene disorders causing Hypogonadotropic hypogonadism
-
ATM gene mutations identified in all studied Ataxia-telangiectasia subjects
-
EXT1 or EXT2 loss-of-function mutations linked to Hereditary multiple exostoses (HME)
-
Defective ectodysplasin A (EDA) causing X-linked hypohidrotic ectodermal dysplasia (XLHED)
Environmental Factors
- Environmental triggers play a significant role in multifactorial rare diseases
-
For systemic sclerosis, specific environmental factors include:
-
Crystalline silica
-
Chlorine solvents
-
Welding vapors
-
Various other solvents
Comorbidities and Associated Conditions
- Systemic sclerosis is associated with multi-organ involvement due to diffuse connective tissue alterations
-
Primary ciliary dyskinesia (PCD) is characterized by:
-
Chronic upper and lower respiratory tract disease
-
Infertility/ectopic pregnancy
-
Situs anomalies (occur in approximately 50% of PCD patients - Kartagener syndrome)
-
Congenital heart abnormalities
-
Chronic suppurative lung disease with bronchiectasis
-
Sickle cell disease can cause substantial health problems including:
-
Infections
-
Stroke
-
Kidney failure
-
Pseudoxanthoma elasticum is linked to:
-
Chronic kidney disease
-
Cardiovascular disorders
- PMM2-CDG (congenital disorder of glycosylation) can cause intracranial hemorrhage
Genetic Predisposition Factors
The most statistically significant genetic predisposition factors associated with rare disease pathogenesis include:
- Biallelic mutations in the EIF2AK4 gene causing heritable Pulmonary veno-occlusive disease (PVOD)
- GNRH1 gene disorders with increased expression associated with isolated Hypogonadotropic hypogonadism
- Biallelic ATM gene mutations in Ataxia-telangiectasia, with 57% of pathogenic ATM alleles in patients of Slavic origin represented by three recurrent mutations (c.5932G > T, c.450_453delTTCT, and c.1564_1565delGA)
- EXT1 or EXT2 loss-of-function mutations in Hereditary multiple exostoses (HME) affecting glycosyltransferases responsible for heparan sulfate synthesis
- Defective ectodysplasin A (EDA) causing X-linked hypohidrotic ectodermal dysplasia (XLHED)
- Single-gene disorder leading to red blood cell sickling in Sickle cell disease
Environmental Exposures
Based on the provided context, the environmental exposures most strongly correlated with rare disease development include:
- Crystalline silica
- Chlorine solvents
- Welding vapors
- Various other solvents
These factors are specifically mentioned as environmental triggers for systemic sclerosis.
Pre-existing Comorbidities
The context does not explicitly list pre-existing comorbidities that increase the incidence of rare diseases. Instead, it describes comorbidities that result from rare diseases.
Familial Inheritance Patterns
The context mentions clustering within families as an indicator of genetic factors in diseases like systemic sclerosis, but does not provide specific information about how familial inheritance patterns and consanguinity contribute to rare disease occurrence rates across different populations.
Incidence and Prevalence
Global Rare Disease Burden: Epidemiological Statistics
Definition and Global Prevalence
Rare diseases are defined differently across regions: - The World Health Organization defines them as conditions with a prevalence of no more than 6.5 per 10,000 people - The European Union sets the threshold at 5:10,000 Europeans - The USA defines rare diseases as ailments affecting fewer than 200,000 Americans - Japan sets the limit at 50,000 Japanese patients - Australia defines it as 2,000 Australian patients
The global average defined prevalence of rare disorders is 40 per 100,000 (0.04%), though collectively they affect a significant portion of the population.
Collective Impact
Despite individual rarity, the collective burden of rare diseases is substantial: - Between 6,000 to 8,000 rare conditions exist globally - Another source indicates 5,000 to 7,000 rare diseases are recognized - A more recent estimate suggests over 12,500 diseases defined as rare disorders occurring in less than 1:2000 live births
These rare conditions collectively affect: - Approximately 8% of the world's population - Over 300 million people worldwide - About 6-8% of the US population, or about 30 million people - A similar number in the European Union - An estimated 3.5-5.9% of the global population
Geographic Variations
Regional data shows significant variations: - In the United States, over 6,000 rare disorders affect approximately 1 in 10 Americans - In Taiwan, from 2002 to 2011, recognized rare diseases increased from 93 to 193, with prevalence rising from 0.02 to 0.74 per 10,000 people - In Colombia, approximately 3 million patients are affected by rare diseases, with a registry recording 13,215 patients with 653 different rare diseases - Arab populations show distinct patterns, with about two-thirds of genetic diseases following an autosomal recessive mode of inheritance
Demographic Patterns
Demographic patterns reveal important trends: - The gender ratio (male/female) of rare disease patients in Taiwan was between 1.02 and 1.13, with male cases representing a higher percentage - In Taiwan, occurrence significantly increased in children 3-5 years of age and elementary school children 6-14 years of age - Most rare disorders affect children and most are genetically determined - Approximately 80% of rare diseases have a genetic cause - There are approximately 8,120 genetic diseases defined in 15,465 epidemiological datasets, with 70% starting in childhood
Disease Characteristics
The most common rare diseases vary by region. In the Colombian registry, the most prevalent were: - Hemophilia A (8.5%) - Myasthenia gravis (6.4%) - Von Willebrand disease (5.9%) - Short stature due to growth hormone qualitative anomaly (4.2%) - Bronchopulmonary dysplasia (3.9%) - Cystic fibrosis (3.2%)
In a Brazilian study of 9,901 patients with suspected inborn errors of metabolism, 647 cases (6.5%) were confirmed.
Company drugs in pipeline
Fujirebio Holdings, Inc. Drug Pipeline
Based on the available information, there is no specific data regarding Fujirebio Holdings, Inc.'s pharmaceutical development pipeline, therapeutic indications, disease targets, or medical conditions they are targeting.
The review of all input materials did not yield any information about Fujirebio Holdings, Inc.'s investigational medicinal products or drug candidates under development, nor any details about their clinical therapeutic areas or pathological states of interest.