International registry for patients with Lipin-1 deficiency
Etude Multicentrique Internationale Sur le déficit en Lipin-1
This study collects information from patients with Lipin-1 deficiency to see how well different treatments work and how they affect their health and quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 12 Months and up |
| Sex | All |
| Sponsor | Imagine Institute Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT05564520 on ClinicalTrials.gov |
What this trial studies
This study collects data on patients with Lipin-1 deficiency to evaluate various aspects such as survival rates, cardiac function, quality of life, fatigability, and treatment tolerance. It aims to compare the efficacy of different current treatments for this condition. The study is observational and involves multiple centers internationally, focusing on the management and follow-up of affected patients.
Who should consider this trial
Good fit: Ideal candidates are patients aged 12 months and older with confirmed Lipin-1 deficiency through molecular biology.
Not a fit: Patients who oppose participation or do not have confirmed Lipin-1 deficiency will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve understanding and management of Lipin-1 deficiency, leading to better patient outcomes.
How similar studies have performed: While this study is observational, similar registries have shown success in improving patient management and outcomes in rare diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene) Exclusion Criteria: Opposition of the patient or his parents to participate to the study
Where this trial is running
Paris
- Necker - Enfants Malades Hospital — Paris, France (Recruiting)
Study contacts
- Principal investigator: Pascale De Lonlay, Pr — Necker Hospital
- Study coordinator: Pascale De Lonlay, Pr
- Email: pascale.delonlay@aphp.fr
- Phone: +33 (0)1 44 49 40 23
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.