Search / Trial NCT00001399

Gene Therapy for the Treatment of Fanconi's Anemia Type C

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Nov 3, 1999

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Trial Information

Current as of May 23, 2024

Completed

Keywords

Gene Therapy Stem Cell Rescue Bone Marrow Failure Fanconi Anemia

Description

Fanconi anemia (FA) is a rare genetic disorder characterized by progressive pancytopenia, congenital abnormalities, and predisposition to malignancy. Therapy is currently limited to allogeneic marrow transplantation; patients lacking a suitable donor usually die from aplasia or acute leukemia. Recently, mutation in a novel gene named FACC (Fanconi anemia C-complementing) has been identified as causing one type of FA. FACC mutations, which introduce splicing errors or stop codons, have been identified in 15% of FA patients. We have recently been successful in functional complementation of fo...

Gender

All

Eligibility criteria

  • INCLUSION CRITERIA:
  • Patients must meet the following criteria within 30 days prior to study entry (Day 0) unless otherwise noted.
  • Males or females, age greater than or equal to 5 years of age.
  • Diagnosis of Fanconi anemia, complementation group C, as confirmed by 1) Diepoxybutane or mitomycin C testing and 2) DNA analysis indicating FACC mutations.
  • Adequate baseline organ function as assessed by the following laboratory values within 30 days prior to study entry (day -30 to 0).
  • Adequate renal function with estimated creatinine clearance greater than 50 ml/min. (This will be determined by serum creatinine and 24-hour urine creatinine ordered concurrently).
  • Adequate liver function with SGOT, SGPT and alkaline phosphatase less than or equal to 5 times the ULN (if transaminases greater than the upper limit of normal (ULN), patients should have a hepatitis B surface antigen (HBsAG) test prior to study entry. Patients may not enter the study if HBsAG is positive).
  • PT and PTT not more than 1.5 times the ULN.
  • Serum Amylase less than or equal to 1.5 times the ULN.
  • Bilirubin less than or equal to 3.0 mg/dL.
  • Triglyceride less than 400 mg/dl.
  • Ability to give informed consent.
  • Normal cardiac function by history and exam.
  • Resting transcutaneous oxygen saturation greater than 90 percent on room air.
  • Karnofsky Performance Status greater than or equal to 40.
  • Although there are no blood count criteria for inclusion in this study, preference will be given to patients with significant marrow failure as reflected by anemia, neutropenia, and/or thrombocytopenia. Furthermore, we intend to first enroll adults and older children, to the extent possible, before enrolling younger children.
  • EXCLUSION CRITERIA:
  • Patients who meet any one of the following criteria will be excluded from study entry:
  • Patients presenting with acute leukemia or bone marrow aspirate revealing greater than 10 percent blasts.
  • Pregnant or lactating females (all patients must practice adequate birth control and females of child-bearing potential must have a negative serum beta-HCG pregnancy test (within Day -7 to Day 0).
  • Acute infection: any acute viral, bacterial, or fungal infection which requires specific therapy. Acute therapy must have been completed within 14 days prior to study treatment.
  • Hepatitis-B surface antigen positive patients.
  • HIV-infected patients.
  • Acute medical problems such as ischemic heart or lung disease that may be considered an unacceptable anesthetic or operative risk.
  • No patients with any underlying conditions which would contraindicate therapy with study treatment (or allergies to reagents used in this study).
  • Patients less than 25 kg in weight .
  • Patients who elect bone marrow transplantation.

Attachments

readout_NCT00001399_2024-05-23.pdf

4.5 MB

NCT00001399_study_protocol.pdf

4.5 MB

About company

The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.

Contacts

JC

Jennifer Cobb

Immunology at National Institute of Allergy and Infectious Diseases (NIAID)

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Reviews (48)

4.6

All reviews come from applied patients

5 stars
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4 stars
6
3 stars
2
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Leslie Alexander
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Michael Foster
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Dries Vincent
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Leslie Alexander
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

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