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Genetic Diseases, Inborn clinical trials

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NCT ID: NCT01135537 Terminated - Metabolic Disease Clinical Trials

Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants

Start date: November 2009
Phase: Phase 2
Study type: Interventional

This study will describe the pharmacokinetic disposition of biologically active rabbit anti-thymocyte globulin (rATG) after a consistent dose of 7.5 mg/kg/course given as part of the conditioning regimen in children undergoing hematopoeitic stem cell transplantation (HSCT).

NCT ID: NCT00916903 Terminated - Clinical trials for X-linked Mental Retardation

Genetic Disease Gene Identification

Start date: October 2005
Phase:
Study type: Observational

This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips. The powerful combination of the information generated by the Human Genome Project and technical advances such as microarrays enables attempts to identify genes responsible for inherited disorders more possible than ever before. Starting with even modest pedigrees of only a few individuals, or even single individuals, it is possible to identify the gene(s) involved. It is proposed to collect up to 20 ml of peripheral blood and/or buccal cell samples from subjects and relevant family members. Currently the following disorders are approved for investigation. The current list of disorders: Aarskog-Scott syndrome, Café-au-Lait spots, Cerebral cavernous malformation, delXp, del2q, del10p, del11q, del12p, del13q, del14q, del16q, del17q, del18q, del Xp21, Choreoathetosis, Congenital Vertical Talus (CVT), Clubfoot, Tarsal coalition and other congenital limb deformities, Cystic Fibrosis (CF)-like disease, Desbuquois syndrome, Droopy Eyelid syndrome (Ptosis), Fanconi-Bickel syndrome (FBS), FENIB (familial encephalopathy with neuroserpin inclusion bodies), FG syndrome, Idiopathic generalised epilepsy (IGE), Renpenning syndrome, transient neonatal diabetes with 6q UPD, translocation (13;14), translocation (3;8), translocation (2;18), Uncharacterized familial dementia and X-linked mental retardation (XLMR).

NCT ID: NCT00358657 Terminated - Clinical trials for Severe Aplastic Anemia

Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Noncancerous Inherited Disorders

Start date: May 24, 2006
Phase: Phase 2
Study type: Interventional

This phase I/II trial studies the side effects of fludarabine phosphate, cyclophosphamide and total-body irradiation followed by donor bone marrow transplant and cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus in treating patients with primary immunodeficiency disorders or noncancerous inherited disorders. Giving low doses of chemotherapy and total-body irradiation before a bone marrow transplant helps prepare the patient's body to accept the incoming donor's bone marrow and decrease the risk that the patient's immune system will reject the donor's stem cells. When the healthy stem cells from a donor are infused into the patient they may help the patient's bone marrow make stem cells, red blood cells, white blood cells, and platelets. Sometimes the transplanted cells from a donor can make an immune response against the body's normal cells called graft versus host disease. Giving cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus after the transplant may help decrease this from happening.

NCT ID: NCT00212407 Terminated - Lymphoma Clinical Trials

New York Blood Center National Cord Blood Program

Start date: February 1993
Phase: Early Phase 1
Study type: Interventional

Umbilical cord blood is used as a source of hematopoietic stem cells for bone marrow reconstitution in patients who would be potential candidates for a bone marrow transplant from an unrelated marrow donor. The outcome of transplantation is obtained to assess cord blood myeloid and platelet engraftment, transplant related mortality, overall survival, graft vs. host disease and, for patients with leukemia, lymphoma or myelodysplasia, relapse.