familial partial lipodystrophy
Information
- Disease name
- familial partial lipodystrophy
- Disease ID
- DOID:0050440
- Description
- "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." [url:http\://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, url:http\://omim.org/entry/608600]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02404896 | Available | Expanded Access Metreleptin Study | |||
| NCT02430077 | Completed | Phase 2 | Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients | June 2016 | December 2022 |
| NCT02654977 | Completed | Phase 2 | CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy | September 29, 2015 | November 14, 2019 |
| NCT03508687 | Completed | Phase 1/Phase 2 | Study of Gemcabene in Adults With FPLD | March 13, 2018 | July 31, 2019 |
| NCT03514420 | Completed | Phase 2 | Study of AKCEA-ANGPTL3-LRx (ISIS 703802) in Participants With Familial Partial Lipodystrophy (FPL) | June 15, 2018 | August 21, 2019 |
| NCT02527343 | Terminated | Phase 2/Phase 3 | The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Partial Lipodystrophy | December 28, 2015 | November 13, 2019 |
| NCT05088460 | Terminated | Phase 2 | A Study to Examine the Effects of the Leptin Receptor (LEPR) Agonist Antibody REGN4461 in Adult Patients With Familial Partial Lipodystrophy (FPLD) | February 28, 2022 | April 18, 2024 |
- Disase is a (Disease Ontology)
- DOID:0080299
- Cross Reference ID (Disease Ontology)
- GARD:11962
- Cross Reference ID (Disease Ontology)
- MESH:D052496
- Cross Reference ID (Disease Ontology)
- MIM:PS151660
- Cross Reference ID (Disease Ontology)
- NCI:C165527
- Cross Reference ID (Disease Ontology)
- NCI:C84708
- Cross Reference ID (Disease Ontology)
- ORDO:98306
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:1197745002
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:49292002
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715439000
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:725035001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0271694
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1720859
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1720860
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1720861
- Exact Synonym (Disease Ontology)
- Dunnigan Syndrome
- Exact Synonym (Disease Ontology)
- Koberling-Dunnigan Syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 98306