Table 4 Novel symptomatic pharmacological treatments for other genetic IDs
From: Promising therapeutic aspects in human genetic imprinting disorders
Syndrome | Modality | Research stage | Putative curative effects |
|---|---|---|---|
BWS | mTOR inhibitor (sirolimus) | Preclinical | Stabilize the blood glucose concentrations [72] |
SRS | Aromatase inhibitor (Anastrozole) | Clinical trial (NCT01520467: not applicable) | Limit the progression of bone maturation |
First-generation antihistamine (CYP) | Pilot study | Increase growth velocity and improve nutritional status [73] | |
PHP | PDE inhibitor (Theophylline) | Clinical trial (NCT03029429, NCT02463409: phase 2; NCT03718403: phase 4) | Control early-onset obesity, decrease hormone resistance, slow the rate of epiphyseal closure |
Calcimimetic agent (Cinacalcet) | Pilot study | Help to control serum PTH level [74] | |
TNDM | SU | Pilot studies | Help to normalize insulin secretion and control glycemia [75,76,77,78] |
DPP4 inhibitor (Alogliptin) | |||
SYS | Oxytocin | Preclinical | Improve the development of the nervous system [79] |