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mTOR Inhibitor

Sirolimus for PTEN Syndrome

Phase 1 & 2
Waitlist Available
Led By Antonio Hardan, MD
Research Sponsored by Stanford University
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Medically stable with no active medical problems such as unstable seizures or cardiovascular disease or cancer that is not in remission as evidenced by medical history
Male or female outpatients between 5.00 and 45.99 years of age
Must not have
Significant medical illness, such as endocrinopathies, cardiovascular disease, or severe chronic malnutrition
Active infection at time of enrollment
Timeline
Screening 3 weeks
Treatment Varies
Follow Up up to 5 years
Awards & highlights

Summary

This trial studies the effects of sirolimus on social communication in people with a genetic disorder called PHTS. It follows a 6 month double-blind trial, followed by 6 months of open-label use.

Who is the study for?
This trial is for people aged 5 to 45 with PTEN Hamartoma Tumor Syndrome confirmed by genetic testing. They must speak English, have moderate social skill deficits, stable medication use, and proper liver and kidney function. Women of childbearing potential and men must agree to use non-estrogen contraception.
What is being tested?
The study tests sirolimus against a placebo over six months to see if it improves social communication in those with PTEN mutations. After the double-blind phase, there's an open-label extension where everyone receives sirolimus.
What are the potential side effects?
While not specified here, sirolimus can typically cause side effects like mouth sores, diarrhea, nausea, low blood cell counts which could increase infection risk; however individual experiences may vary.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I don't have any active medical issues like unstable seizures or heart problems.
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I am between 5 and 45 years old.
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My genetic test confirmed I have PHTS.
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My blood tests show my liver is working well and my blood counts are within a healthy range.
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My kidney function is good, with a GFR of 50 or higher.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
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I do not have severe illnesses like heart disease or chronic malnutrition.
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I do not have an active infection.
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I haven't had major surgery or radiation therapy in the last 4 weeks.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~up to 5 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Side effects data

From 2008 Phase 4 trial • 293 Patients • NCT00118742
29%
Diarrhoea
18%
Abdominal Pain
16%
Nausea
16%
Headache
16%
Fatigue
16%
Hepatitis C
14%
Vomiting
14%
Pyrexia
14%
Leukopenia
12%
Oedema Peripheral
11%
Insomnia
10%
Anaemia
10%
Hyperkalaemia
10%
Tremor
10%
Back Pain
10%
Hypertension
9%
Cough
9%
Pruritis
9%
Arthralgia
8%
Neutropenia
8%
Abdominal Pain Upper
8%
Dizziness
8%
Pain in Extremity
8%
Hepatic Enzyme Increased
7%
Dyspnoea
7%
Constipation
7%
Sinusitis
7%
Weight Decreased
6%
Blood Creatinine Increased
6%
Liver Function Test Abnormal
6%
White Blood Cell Count Decreased
5%
Jaundice
5%
Renal Failure
5%
Muscle Spasms
5%
Decreased Appetite
5%
Weight Increased
5%
Upper Respiratory Tract Infection
5%
Nasopharyngitis
5%
Asthenia
5%
Incision Site Pain
5%
Depression
4%
Anorexia
4%
Night Sweats
4%
Oropharyngeal Pain
4%
Rhinorrhoea
3%
Pleural Effusion
3%
Myalgia
3%
Hyperlipidaemia
3%
Thrombocytopenia
3%
Rash
3%
Acne
3%
Incisional Hernia
2%
Sepsis
2%
Pneumonia
2%
Hypokalaemia
1%
Urinary Retention
1%
Clostridium Difficile Colitis
1%
Benign Prostatic Hyperplasia
1%
Renal Failure Acute
1%
Hypoglycaemia
1%
Blood Alkaline Phosphatase Increased
1%
Gastritis
1%
Cerebral Haemorrhage
1%
Crohn's Disease
1%
Abdominal Hernia
1%
Chest Pain
1%
Hepatic Failure
1%
Multi-Organ Failure
1%
Hepatic Neoplasm Malignant
1%
Non-Small Cell Lung Cancer Metastatic
1%
Ventricular Tachycardia
1%
Inappropriate Antidiuretic Hormone Secretion
1%
Gastrointestinal Haemorrhage
1%
Cardiac Failure Congestive
1%
Hepatic Artery Stenosis
1%
Portal Vein Thrombosis
1%
Epstein-Barr Virus Associated Lymphoproliferative Disorder
1%
Gastrointestinal Tract Adenoma
1%
Febrile Neutropenia
1%
Encephalopathy
1%
Atrial Flutter
1%
Blood Glucose Increased
1%
Transplant Rejection
1%
Confusional State
1%
Spinal Osteoarthritis
1%
Hypercholesterolaemia
1%
Convulsion
1%
Peritonitis
1%
Haemorrhage Intracranial
1%
Deep Vein Thrombosis
1%
Inguinal Hernia
1%
Viral Infection
1%
Acarodermatitis
1%
Atrial Fibrillation
1%
Malaise
1%
Hepatic Cancer Metastatic
1%
Adenocarcinoma
1%
B-Cell Lymphoma
1%
Desmoid Tumour
1%
Pulmonary Embolism
1%
Stomatitis
1%
Influenza
1%
Staphylococcal Infection
1%
Umbilical Hernia
1%
Hepatic Function Abnormal
1%
Hyponatraemia
1%
Bacteraemia
1%
Cellulitis
1%
Clostridial Infection
1%
Diverticulitis
1%
Escherichia Urinary Tract Infection
1%
Lactobacillus Infection
1%
Lobar Pneumonia
1%
Pseudomonal Sepsis
1%
Post Procedural Haemorrhage
1%
Procedural Pain
1%
Biliary Anastomosis Complication
1%
Complications of Transplanted Kidney
1%
Bile Duct Obstruction
1%
Bile Duct Stenosis
1%
Biliary Tract Disorder
1%
Autoimmune Hepatitis
1%
Cholestasis
1%
Lung Disorder
1%
Pulmonary Oedema
1%
Sinus Congestion
1%
Embolism Venous
1%
Orthostatic Hypotension
1%
Vasculitis
1%
Hyperglycaemia
1%
Graft Versus Host Disease
100%
80%
60%
40%
20%
0%
Study treatment Arm
CellCept + CNI (Tacrolimus or Cyclosporine)
CellCept + Sirolimus

Trial Design

2Treatment groups
Experimental Treatment
Placebo Group
Group I: SirolimusExperimental Treatment1 Intervention
Participants that are 5 to 12.99 years old will start at 1 mg/m2/dose. Participants that are 13 to 45.99 years old and \< 39.99 kg in weight will also start on 1 mg/day. Participants that are 13 to 45.99 years old and \> 40 kg in weight will start on 2 mg/day. The target blood level will be 5-15 ng/ml with dose adjustment based on sirolimus levels obtained every 2 to 3 weeks after every dose change.
Group II: PlaceboPlacebo Group1 Intervention
matching placebo
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Sirolimus
2013
Completed Phase 4
~2750

Find a Location

Who is running the clinical trial?

Stanford UniversityLead Sponsor
2,448 Previous Clinical Trials
17,492,394 Total Patients Enrolled
Antonio Hardan, MDPrincipal InvestigatorStanford University
9 Previous Clinical Trials
411 Total Patients Enrolled
~0 spots leftby Jun 2028
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