Synonyms ACADVLD, ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, Acadvl + [38] |
Introduction The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease. |
Target- |
Mechanism Stem cell replacements |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication- |
Drug Highest PhasePhase 2 |
First Approval Ctry. / Loc.- |
First Approval Date- |
Target |
Mechanism PPARδ agonists |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication |
Drug Highest PhasePhase 2 |
First Approval Ctry. / Loc.- |
First Approval Date- |
Target |
Mechanism ACADVL modulators |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication- |
Drug Highest PhasePreclinical |
First Approval Ctry. / Loc.- |
First Approval Date- |
Start Date31 Jul 2023 |
Sponsor / Collaborator |
Start Date03 Oct 2022 |
Sponsor / Collaborator- |
Start Date01 Aug 2022 |
Sponsor / Collaborator |
