Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome
NCT ID: NCT03047980
Last Updated: 2021-11-01
Study Results
Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.
View full resultsBasic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
PHASE2/PHASE3
10 participants
INTERVENTIONAL
2017-01-31
2020-10-27
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Keywords
Explore important study keywords that can help with search, categorization, and topic discovery.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
NA
SINGLE_GROUP
TREATMENT
NONE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Sirolimus
All subjects will receive the sirolimus oral solution to be taken at home twice daily and will be treated on an outpatient basis. The drug will be taken for six months.
Sirolimus
Low dose oral sirolimus
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Sirolimus
Low dose oral sirolimus
Other Intervention Names
Discover alternative or legacy names that may be used to describe the listed interventions across different sources.
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
2. Cognitive impairment as defined by the following:
SWS cognitive neuroscore of ≥ 1
3. Ability to participate in direct neuropsychological and developmental testing.
4. English as primary language.
5. Stable anti-epileptic drugs (no changes in medications except dose for \>3 months).
6. Adequate renal function. GFR must be greater than 50 ml/min/m2 as determined by the Schwartz Formula for children and MDRD for adults: http://www.nkdep.nih.gov/professionals/gfr\_calculators/index.htm
7. If female and of child bearing potential, documentation of a negative pregnancy test prior to enrollment determined by a urine test is required. Sexually active pre-menopausal female patients (and female partners of male patients) must use adequate contraceptive measures, excluding estrogen containing contraceptives, while on the study drug. Abstinence will be considered an adequate contraceptive measure.
8. INR ≤1.5 (Anticoagulation is allowed if target INR ≤ 1.5 on a stable dose of warfarin or on a stable dose of LMW heparin for \>2 weeks.)
9. Adequate liver function as shown by:
* Serum bilirubin ≤ 1.5x ULN
* ALT and AST ≤ 2.5x ULN
10. Written informed consent according to local guidelines. Local guidelines for subject assent will also be followed.
11. Stable dose of medications affecting the cytochrome P 450 3A4 (CYP3A4) and p glycoprotein (P gp) systems for at least 3 months prior to consent.
Exclusion Criteria
2. Patients with seizures secondary to metabolic, toxic, infectious or psychogenic disorder, drug abuse or current seizures related to an acute medical illness.
3. Inability to keep follow-up appointments, maintain close contact with Principal Investigators, and/or complete all necessary studies to maintain safety.
4. Patients in need of immediate major surgical intervention.
5. Concurrent severe and/or uncontrolled medical disease, which could compromise participation in the pilot study (e.g. uncontrolled diabetes, uncontrolled hypertension, severe infection, severe malnutrition, chronic liver or renal disease, active upper GI tract ulceration, impaired or restrictive pulmonary function, pneumonitis or pulmonary infiltrates).
6. Chronic treatment with systemic steroids or another immunosuppressive agent. Patients with endocrine deficiencies are allowed to receive physiologic or stress doses of steroids if necessary. Inhaled steroids are allowed.
7. Known history of HIV seropositivity or known immunodeficiency. Testing is not required unless a condition is suspected.
8. Impairment of gastrointestinal function or gastrointestinal disease that may significantly alter the absorption of sirolimus (e.g. ulcerative disease, uncontrolled nausea, vomiting, diarrhea, malabsorption syndrome or small bowel resection). A gastric tube or nasogastric tube is allowed.
9. Patients with an active, bleeding diathesis.
10. Patients with uncontrolled hyperlipidemia: fasting serum cholesterol \> 300 mg/dL AND fasting triglycerides \> 2.5 x ULN.
11. Patients who have had a major surgery or significant traumatic injury within four weeks of study entry. Patients who have not recovered from the side effects of any major surgery (defined as requiring general anesthesia) or patients that may require major surgery during the course of the pilot study.
12. Patients with a prior history of organ transplant.
13. Patients who have received live attenuated vaccines within one week of start of sirolimus and during the pilot study.
14. Patients who have a history of malignancy.
15. Patients who are currently part of or have participated in any clinical investigation with an investigational drug within one month prior to enrollment.
16. Patients being treated with felbamate, unless treatment has been continuous for ≥ one year.
17. Patients currently receiving anticancer therapies or who have received anticancer therapies within four weeks of study entry (including chemotherapy, radiation therapy, antibody based therapy, etc.).
3 Years
31 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Children's Hospital Medical Center, Cincinnati
OTHER
Pfizer
INDUSTRY
National Institutes of Health (NIH)
NIH
Faneca 66 Foundation
OTHER
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Anne Comi, MD
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Anne Comi, MD
Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute, Professor Johns Hopkins University School of Medicine
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Anne M Comi, M.D.
Role: PRINCIPAL_INVESTIGATOR
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Kennedy Krieger Institute
Baltimore, Maryland, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Countries
Review the countries where the study has at least one active or historical site.
Provided Documents
Download supplemental materials such as informed consent forms, study protocols, or participant manuals.
Document Type: Study Protocol and Statistical Analysis Plan
Related Links
Access external resources that provide additional context or updates about the study.
Hunter Nelson Sturge-Weber Center Website
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
BVMC6209
Identifier Type: OTHER_GRANT
Identifier Source: secondary_id
IRB00079722
Identifier Type: -
Identifier Source: org_study_id