Status:
COMPLETED
Senicapoc and Dehydrated Stomatocytosis
Lead Sponsor:
Boston Children's Hospital
Conditions:
Dehydrated Hereditary Stomatocytosis
Eligibility:
All Genders
21+ years
Phase:
PHASE1
PHASE2
Brief Summary
Dehydrated stomatocytosis is a genetic disorder characterized by chronic hemolysis, variable anemia and erythrocyte dehydration. Causative mutations have been identified in either the Gardos (KCNN4) c...
Detailed Description
The proposed study is an explanatory, proof-of-concept study of Senicapoc administered once daily in patients with familial dehydrated stomatocytosis caused by the autosomal dominant V282 mutation in ...
Eligibility Criteria
Inclusion
- Patients carrying KCNN4 mutations in V282M as described in 1981 by Snyder et al and Sauberman et al. and characterized molecularly by Andolfo et al. in 2015 , and other patients with V282 mutations with demonstrated in-vitro sensitivity to senicapoc, will be eligible to participate in this study if they meet all the following criteria:
- Have a diagnosis of dehydrated stomatocytosis with a molecularly confirmed mutation in KCNN4.
- Are at least 21 years of age.
- Have hematological manifestations of dehydrated stomatocytosis such as elevated MCHC, compensated or uncompensated chronic hemolysis, with reticulocytosis. For enrollment, 3/5 of the following baseline value must meet enrollment criteria:
- Reference Range Enrollment criterion MCHC 32-36 mg/dL \> 36 mg/dL Reticulocyte count (absolute) 0.25-0.90 x 103/µL \> 0.200 x 103/µL Bilirubin, Indirect 0.2-1.2 mg/dL \> 1.5 mg/dL Haptoglobin. 43-212 mg/dL \< normal LDH 100-220 U/L \> normal
- Personally dated and signed informed consent detailing all the pertinent aspects of the study.
- Willingness to adhere to study visit schedule, treatment plan, blood draws and laboratory tests and other study procedures.
Exclusion
- Patient will be excluded from the study if they meet any of the following criteria:
- RBC transfusion in the prior 90 days.
- Recent (within the past 30 days) hospitalization for major surgical procedure, infection requiring IV treatment, or significant bleeding complications.
- Recent (within 2 weeks) diagnosis of cerebrovascular accident of transient ischemic attack.
- Hepatic dysfunction serum alanine transferase or GGT values \> 3 times the upper limit of normal, total serum bilirubin values \> 20 mg/dL
- Renal disease (defined as serum creatinine greater than 1.2 mg/dL, or a requirement for chronic dialysis).
- Severe symptomatic anemia defined as a Hct value \< 18%.
- Any other severe acute or chronic medical condition or laboratory alteration that may increase the risks associated with participation to this study and/or administration of senicapoc, based on the clinical judgement of the principal investigator.
- Any condition that may interfere with the study subject's ability to adhere to study schedule, or comply with blood drawing requirements, such as inadequate venous access.
- Pregnancy or breastfeeding for female subjects.
- Concurrent use of illicit drugs and/or alcohol dependence, as determined by the principal investigator.
Key Trial Info
Start Date :
April 15 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
February 1 2024
Estimated Enrollment :
5 Patients enrolled
Trial Details
Trial ID
NCT04372498
Start Date
April 15 2021
End Date
February 1 2024
Last Update
February 22 2024
Active Locations (1)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115-5724