Hutchinson-Gilford Progeria Syndrome
Conditions
Brief summary
We suggest treating the Hutchinson-Gilford Progeria Syndrome by two molecules (zoledronic acid and pravastatin).The therapeutic approach which we propose has for objectives to reduce, to prevent or to delay the gravest infringements of the disease, to prolong the life of the children, and in a more general way, aim at improving their living conditions.
Interventions
DRUGZoledronic acid, pravastatin
Pravastatin : 10 mg daily Zoledronic acid : slow (30 mn) intravenous injections, diluted into 50 ml of saline solution following this schedule : * injection 1, S1: 0.0125 mg/kg of zoledronic acid * injection 2, S6: 0.025 mg/kg of zoledronic acid * injection 3, S12 and following, trimestrial basis, 0.05 mg/kg of zoledronic acid
Sponsors
Assistance Publique Hopitaux De Marseille
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Molecularly characterised patients with a known mutation of their LMNA gene leading to the production of a farnesylated prelamin A, whether truncated or not * Patients must be able to travel and consult in Marseille, France for necessary explorations planned at the inclusion step, then following the protocol flow * chart for zoledronic acid injections and follow-up visits * Patient older than 3 years * Patients affiliated or beneficiary of a legal medical insurance * Adult patients certifying they have been properly informed about the protocol, and they signed a written consent form. Children and/or disabled patients whose parents/legal tutor have been informed and have signed a written consent form
Exclusion criteria
* Known hypersensitivity to pravastatin or zoledronic acid * Seric transaminase levels higher than 3 times of normal value * CPK level higher than 5 times of normal value * Creatininemia higher than 0.5mg/dl or 44mM, or creatinin clearance lower than 70ml/min/1.73m3 * Presence of dental troubles, or recent dental trouble * Maxillary osteonecrosis or bone nakedness antecedent * Congenital galacosemia, glucose or galactose maladsorption syndrome, lactase deficiency * Every other pathology thought to be incompatible with proposed treatment by the investigator * Under treatment that can interfere with pravastatin and/or zoledronate metabolisms
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the tolerance and efficacy of pravastatin and zoledronic acid in combination on the patient's weight, height and bone metabolism in Progeria treatment | 48 months |
Secondary
| Measure | Time frame |
|---|---|
| To evaluate the tolerance and efficacy of the treatment on other clinical and biological symptoms | 48 months |
Countries
France
Outcome results
None listed