achondroplasia
Information
- Disease name
- achondroplasia
- Disease ID
- DOID:4480
- Description
- "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." [url:http\://en.wikipedia.org/wiki/Achondroplasia, url:http\://ghr.nlm.nih.gov/condition/achondroplasia, url:http\://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001577.htm, url:https\://www.genome.gov/Genetic-Disorders/Achondroplasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03424018 | Active, not recruiting | Phase 3 | An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia | December 12, 2017 | June 2031 |
| NCT05246033 | Active, not recruiting | Phase 2 | A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia | January 5, 2022 | March 2024 |
| NCT02724228 | Active, not recruiting | Phase 2 | A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) | January 26, 2016 | February 2028 |
| NCT05598320 | Active, not recruiting | Phase 2/Phase 3 | A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Children With Achondroplasia | March 3, 2023 | August 2025 |
| NCT03989947 | Active, not recruiting | Phase 2 | An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia | June 12, 2019 | December 2026 |
| NCT04554940 | Active, not recruiting | Phase 2 | A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia | October 10, 2020 | December 2027 |
| NCT04085523 | Active, not recruiting | Phase 2 | A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia | June 24, 2020 | September 2024 |
| NCT03197766 | Completed | Phase 3 | A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia | December 12, 2016 | October 30, 2019 |
| NCT03449368 | Completed | Lifetime Impact of Achondroplasia Study in Europe-LIAISE | December 17, 2017 | April 29, 2020 | |
| NCT03583697 | Completed | Phase 2 | A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia | June 13, 2018 | January 26, 2022 |
| NCT03780153 | Completed | The Norwegian Adult Achondroplasia Study | March 1, 2017 | March 21, 2022 | |
| NCT03872531 | Completed | Lifetime Impact Study for Achondroplasia | March 31, 2019 | February 6, 2021 | |
| NCT03875534 | Completed | A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia | June 19, 2019 | January 12, 2024 | |
| NCT00001536 | Completed | Issues Surrounding Prenatal Genetic Testing for Achondroplasia | August 1996 | July 2000 | |
| NCT01435629 | Completed | A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin | November 22, 2012 | December 4, 2015 | |
| NCT01516229 | Completed | Special Survey for Long Term Application | May 1, 1997 | March 31, 2007 | |
| NCT01541306 | Completed | C-Type Natriuretic Peptide and Achondroplasia | February 2012 | December 2014 | |
| NCT01590446 | Completed | Phase 1 | A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers | February 2012 | June 2012 |
| NCT01603095 | Completed | A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia | April 2012 | February 2021 | |
| NCT02055157 | Completed | Phase 2 | A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia | January 13, 2014 | October 2, 2017 |
| NCT05659719 | Completed | A Study to Learn About Recifercept in Patients With Achondroplasia | October 19, 2022 | May 16, 2023 | |
| NCT06164951 | Enrolling by invitation | Phase 3 | A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia | November 10, 2023 | April 30, 2026 |
| NCT05929807 | Enrolling by invitation | Phase 2/Phase 3 | A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia | June 21, 2023 | March 2039 |
| NCT02597881 | Enrolling by invitation | Achondroplasia Natural History Multicenter Clinical Study | April 2016 | December 2024 | |
| NCT05145010 | Enrolling by invitation | Phase 2 | Extension Study of Infigratinib in Children With Achondroplasia (ACH) | December 6, 2021 | February 1, 2032 |
| NCT06433557 | Not yet recruiting | Phase 2 | A Phase 2 Clinical Trial to Evaluate Efficacy, Safety, and Tolerability of Navepegritide in Combination With Lonapegsomatropin in Children With Achondroplasia | June 2024 | July 2027 |
| NCT04265651 | Recruiting | Phase 2 | Study of Infigratinib in Children With Achondroplasia | March 10, 2020 | December 2024 |
| NCT04035811 | Recruiting | Prospective Clinical Assessment Study in Children With Achondroplasia (ACH) | August 12, 2019 | June 2026 | |
| NCT05328050 | Recruiting | Registry for Patients With Achondroplasia / Hypochondroplasia (OMPR-Ach/Hy) | September 1, 2021 | December 31, 2036 | |
| NCT05353192 | Recruiting | Phase 4 | A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children With Achondroplasia | September 23, 2022 | February 2025 |
| NCT05603936 | Recruiting | Adaption and Testing of the Quality of Life in Short Stature Youth (QoLISSY) Questionnaire for Parents With Children From 0-4 | March 1, 2022 | December 31, 2023 | |
| NCT06079398 | Recruiting | Phase 2 | A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Infants (0 to <2 Years of Age) With Achondroplasia | January 23, 2024 | March 2027 |
| NCT06168201 | Recruiting | A Participant-mediated Observational Virtual Registry of Children With Achondroplasia in the United States | February 21, 2023 | February 2028 | |
| NCT05116046 | Terminated | Phase 2 | Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia | December 24, 2021 | March 30, 2023 |
| NCT04638153 | Terminated | Phase 2 | A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia | December 2, 2020 | March 27, 2023 |
| NCT03794609 | Terminated | Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia. | June 15, 2018 | January 13, 2023 | |
| NCT05813314 | Terminated | Phase 1 | Bioequivalence Study to Compare Two Injection Devices for BMN 111 in Healthy Participants | March 15, 2023 | June 14, 2023 |
| NCT04184817 | Unknown status | Radiological Analysis on Patients With Achondroplasia Disorder | February 15, 2020 | August 2020 |
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:8173
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.4
- Cross Reference ID (Disease Ontology)
- MESH:D000130
- Cross Reference ID (Disease Ontology)
- MIM:100800
- Cross Reference ID (Disease Ontology)
- NCI:C34345
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:268273004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0001080
- Exact Synonym (Disease Ontology)
- Achondroplastic physique
- Exact Synonym (Disease Ontology)
- Chondrodystrophia
- Exact Synonym (Disease Ontology)
- osteosclerosis congenita
- OrphaNumber from OrphaNet (Orphanet)
- 15
- ICD10 preferred id (Insert disease from ICD10)
- D0014063
- ICD10 class code (Insert disease from ICD10)
- Q77.4
- MeSH unique ID (MeSH (Medical Subject Headings))
- D000130