PIK3CA related overgrowth syndrome
Conditions
Interventions
affected side:use rapamycin
Sponsors
Beijing Jishuitan Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: (1) Clinically diagnosed with Overgrowth syndrome (2) Somatic chimeric PIK3CA or AKT1 pathogenic mutations were confirmed by second-generation sequencing; (3) No limitation on gender and age; (4) No liver and kidney failure; (5) Participate in the experiment on a voluntary basis and sign the informed consent form by oneself or the legal guardian.
Exclusion criteria
Exclusion criteria: (1) Complicated with acute and chronic infections, such as fever, cough, sputum, diarrhea, vomiting, dysuria, urgency and frequency of urination, skin abscess, etc., the white blood cells were larger than the normal range, and CRP, PCT and erythrocyte sedimentation rate were increased; (2) Insufficiency of liver, kidney and bone marrow; (3) Neutrophils lower than 1.0 x 10^9/L; (4) Allergic to rapamycin; (5) Pregnant and lactating women; (6) Metabolic disorders, such as electrolyte disturbances and blood glucose abnormalities; (7) Patients with liver and lung transplantation; (8) Patients with severe hyperlipidemia; (9) Abusers of alcohol, drugs or drugs (e.g.laxatives); (10) Patients who are participating in another clinical trial that may have an impact on the purpose of this study at the same time or within one month; (11) A history of rapamycin use within a previous month; (12) Had a history of major surgery in the previous 12 weeks; (13) Had a history of live vaccination 4 weeks ago; (14) Other reasons were not considered appropriate by the researchers for clinical trials.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| the circle-diameter of limb or digit;Tissue volume of the affected site; | — |
Secondary
| Measure | Time frame |
|---|---|
| Rapamycin steady-state plasma concentration;the dose of rapamycin;the score of Pediatric Quality of Life Inventory; | — |
Countries
China
Contacts
Public ContactTian Wen
Beijing Jishuitan Hospital
Outcome results
None listed