Achondroplasia
Therapeutic area
Rheumatology
Rare disease
Yes
- Definition
- Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Achondroplasia
- Therapeutic area
- Rheumatology
- achondroplasia
- ACH
- achondroplasia
- achondroplastic dwarfism
- All therapeutic areas
- Rheumatology
- Severity
- Moderate
- Developmental
- Genetic
- Hereditary
- MONDO ID
- MONDO:0007037
- Parent condition
- MONDO:0005516
Related records
Broader conditions (15)
- Bone development disease
- Bone disorder
- Disease
- Disease by body system or component
- Disease by developmental or physiological process
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Disorder of development or morphogenesis
- FGFR3-related chondrodysplasia
- Hereditary disease
- Human disease
- Musculoskeletal system disorder
- Osteochondrodysplasia
- Skeletal dysplasia
- Skeletal system disorder
Trials (46)
- A Clinical Trial to Evaluate Efficacy and Safety of Navepegritide in Adolescents (12 - 18 Years of Age) With Achondroplasia.
- A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Children With Achondroplasia
- A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Infants (0 to <2 Years of Age) With Achondroplasia
- A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia
- A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia
- A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia
- A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia
- A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia
- A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
- A Phase 2 Clinical Trial to Evaluate Efficacy, Safety, and Tolerability of Navepegritide in Combination With Lonapegsomatropin in Children With Achondroplasia
- A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia
- A Study in Children With Achondroplasia
- A Study of ABSK061 to Assess Safety, Tolerability, Pharmacokinetics, and Efficacy in Children With Achondroplasia
- A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia
- A Study of TYRA-300 in Children With Achondroplasia: BEACH301
- A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)
- A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers
- A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia
- A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia
Approved drugs (1)
- Vosoritide
Drugs in development (5)
- Infigratinib Phase 2
- Lonapegsomatropin Phase 2
- Navepegritide Phase 2
- Recifercept Phase 2
- Sodium chloride Phase 1