Clinical trials: Lipin-1 Deficiency
LIPIN1 Deficiency
Acute Rhabdomyolysis and Muscle Pain Associated With Mutations in the LPIN1 Gene - A Retrospective Study Describing the Safety and Efficacy of Hydroxychloroquine Sulfate Given on a Compassionate Basis to Patients Suffering From Lipin-1 Deficiency
Lipin-1 deficiencies are responsible for severe rhabdomyolysis and muscle pain in childhood. A specific treatment does not exist.
- Trial name
- LIPIN-1-METAB (NCT04007562)
- Testing
- Hydroxychloroquine Sulfate
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lipin-1 Deficiency
International Multicenter Study on Lipin-1 Deficiency
LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.
- Trial name
- LIPIN1 (NCT05564520)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Imagine Institute