Clinical Trials for SCID


Now recruiting patients (clinicaltrials.gov)

For the most recent information on clinical trials, please visit www.clinicaltrials.gov or click on the link below for each trial.

1. JSP191 Antibody Targeting Conditioning in SCID Patients

Detailed Description:

A Phase 1/2 study to evaluate the safety, tolerability, and efficacy of an antibody conditioning regimen, known as JSP191, in patients with SCID undergoing blood stem cell transplantation. Blood Stem Cell transplantation offers the only potentially curative therapy for SCID.

The biological conditioning regimen, JSP191, is an antibody that binds to CD117. CD117 is the receptor for Stem Cell Factor on blood forming cells. CD117 binding to Stem Cell Factor is critical for survival and maintenance of blood forming stem cells. The binding of JSP191 to CD117 blocks CD117 from binding to Stem Cell Factor on blood forming stem cells. In the absence of CD117/Stem Cell Factor binding, hematopoietic stem cells that are currently occupying the bone marrow niches in SCID patients are depleted.

Type of SCID:

Typical SCID as defined by Primary Immune Deficiency Treatment Consortia including but not limited to the following subtypes:

  • T-, B+, NK-: IL-2Rcγ deficient, JAK3-deficient
  • T-, B-, NK+: RAG1/2 deficient, Artemis-deficient
  • T-, B+, NK+: IL7Rα deficient, CD3 subunit deficient, CD45 deficient OR Variant SCID with absent or low T cell function, Omenn syndrome, Leaky SCID, Reticular dysgenesis, ADA Adenosine deaminase deficiency, and PNP Purine nucleoside phosphorylase deficiency may be included after consultation with the medical monitor.

Locations:

  • Multiple sites across the US.

ClinicalTrials.gov Identifier: NCT02963064

Investigators:

Principal Investigator: Rajni A. Agarwal-Hashmi, M.D. Lucile Packard Children’s Hospital
Principal Investigator: Christopher C. Dvorak, M.D. UCSF Benioff’s Children’s Hospital
Principal Investigator: Joseph H. Oved, M.D. Memorial Sloan Kettering Cancer Center
Principal Investigator: Theodore B. Moore, M.D. UCLA Mattel Children’s Hospital
Principal Investigator: Sharat Chandra, M.D. Children’s Hospital Medical Center, Cincinnati
Principal Investigator: Christen L Ebens, M.D., MPH University of Minnesota
Principal Investigator: Harry L Malech, M.D. National Institutes of Health Clinical Center (CC)
Principal Investigator: Shanmuganathan Chandrakasan, M.D. Children’s Healthcare of Atlanta

Contact:

Email: ClinicalTrials@JasperTherapeutics.com

2. Conditioning SCID Infants Diagnosed Early (CSIDE)

Brief Summary:

The investigators want to study if lower doses of chemotherapy will help babies with SCID to achieve good immunity with less short and long-term risks of complications after transplantation. This trial identifies babies with types of immune deficiencies that are most likely to succeed with this approach and offers them transplant early in life before they get severe infections or later if their infections are under control. It includes only patients receiving unrelated or mismatched related donor transplants.

The study will test if patients receiving transplant using either a low dose busulfan or a medium dose busulfan will have immune recovery of both T and B cells, measured by the ability to respond to immunizations after transplant. The exact regimen depends on the subtype of SCID the patient has. Donors used for transplant must be unrelated or half-matched related (haploidentical) donors, and peripheral blood stem cells must be used. To minimize the chance of graft-versus-host disease (GVHD), the stem cells will have most, but not all, of the T cells removed, using a newer, experimental approach of a well-established technology. Once the stem cell transplant is completed, patients will be followed for 3 years. Approximately 9-18 months after the transplant, vaccinations will be administered, and a blood test measuring whether your child’s body has responded to the vaccine will be collected.

Type of SCID:

Infants with SCID, either typical or leaky or Omenn syndrome.

Locations:

Multiple sites across the US

ClinicalTrials.gov Identifier: NCT03619551

Investigators:

Study Chair: Sung-Yun Pai, MD National Institutes of Health (NIH)
Study Chair: Michael Pulsipher, MD Children’s Hospital Los Angeles

Contacts:

Jenny Vogel 763-406-8691 jvogel@nmdp.org
Liz Gourdine 323-361-6652 CSIDE@chla.usc.edu

3. Autologous Gene Therapy for Artemis-Deficient SCID

Brief Summary:

This study aims to determine if a new method can be used to treat Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene. This method involves transferring a normal copy of the DCLRE1C gene into stem cells of an affected patient. Participants will receive an infusion of stem cells transduced with a self-inactivating lentiviral vector that contains a normal copy of the DCLRE1C gene. Prior to the infusion they will receive sub-ablative, dose-targeted busulfan conditioning. The study will investigate if the procedure is safe, whether it can be done according to the methods described in the protocol, and whether the procedure will provide a normal immune system for the patient. A total of 25 patients will be enrolled at the University of California San Francisco in this single-site trial, and will be followed for 15 years post-infusion. It is hoped that this type of gene transfer may offer improved outcomes for ART-SCID patients who lack a brother or sister who can be used as a donor for stem cell transplantation or who have failed to develop a functioning immune system after a previous stem cell transplant.

Type of SCID: 

Artemis (ART-SCID)

Location: 

University of California, San Francisco (UCSF) Children’s Hospital
San Francisco, California, United States, 94143

ClinicalTrials.gov Identifier:  NCT03538899

Contacts:

Morton Cowan, MD     415-476-2188    Mort.Cowan@ucsf.edu
Jennifer Puck, MD       415 502-2090    Jennifer.Puck@ucsf.edu

4. Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)

Brief Summary:

Infants with severe combined immunodeficiency (SCID) have a profound decrease in number and function of immune cells, and therefore remain highly vulnerable to infection. If not corrected this often leads to death. Hematopoietic cell transplantation (HCT) from matched sibling donor is the standard treatment for these patients, unfortunately though; most SCID patients lack a sibling donor. Building upon experience and existing data, the investigators are proposing a trial the goals of which are: to provide a conditioning regimen that is well tolerated, and provision of immune cells that altogether should establish rapid immune recovery providing protection from life threatening infections without increasing the risk of dangerous Graft-Versus-Host-Disease.

Primary Objectives

  1. To evaluate the safety of a TCRα/β/CD19-depleted graft with CD45RA-depleted DLI in infants with SCID
  2. To estimate overall survival at 1 year post transplantation

Ages Eligible for Study: 2 Months and older (Child, Adult, Older Adult)

Type of SCID:

A proven mutation as defined by direct sequencing of patient DNA

Location: 

St. Jude Children’s Research Hospital  Memphis, Tennessee

ClinicalTrials.gov Identifier: NCT03597594

Contact:

Ewelina Mamcarz, MD    866-278-5833    referralinfo@stjude.org

5. Phase I/II Clinical Trial Stem Cell Gene Therapy in RAG1-Deficient SCID (RAG1-SCID)

Brief Summary:

This study is a prospective, non-randomized, open-label, two-centre phase I/II intervention study designed to treat children up to 24 months of age with RAG1-deficient SCID with an indication for allogeneic hematopoietic stem cell transplantation but lacking an HLA-matched donor. The study involves infusion of autologous CD34+ cells transduced with the pCCL.MND.coRAG1.wpre lentiviral vector (hereafter called RAG1 LV CD34+ cells) in five patients with RAG1-deficient SCID.

Type of SCID:

RAG1-deficient SCID

Location:

Leiden University Medical Center Recruiting
Leiden, Netherlands, 2300RC

ClinicalTrials.gov Identifier: NCT04797260

Investigators:

Arjan C Lankester, Prof.dr. Leiden University Medical Center

Contacts:

Arjan C Lankester, Prof. Dr. 0031715264871 A.Lankester@lumc.nl
Estefania Laney, MSc. 0031715296242 e.laney@lumc.nl

6. Safety and Efficacy Study of Human T Lymphoid Progenitor (HTLP) Injection After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients (HTLP Necker)

Brief Summary:

The purpose of this study is to evaluate the safety and the efficacy of Human T Lymphoid Progenitor (HTLP) injection to accelerate immune reconstitution after partially HLA compatible allogeneic hematopoietic stem cell transplantation in SCID patients.

Type of SCID:

All Types

Location:

France, Unité d’Immunologie Hématologie Rhumatologie Pédiatrique (UIHR),
Paris, Ile De France, France, 75015

ClinicalTrials.gov Identifier: NCT03879876

Contacts:

Marina CAVAZZANA, MD, PhD 33 1 44 49 50 68 m.cavazzana@aphp.fr

7. Registry Study of Revcovi Treatment in Patients With ADA-SCID

Observational Study

Brief Summary:

The objective of this study is to develop a registry of patients with adenosine deaminase severe combined immune deficiency (ADA-SCID) treated with Revcovi™ that contains clinical and biochemical assessments for safety and dose adjustment based on adenosine deaminase (ADA) activity and erythrocyte deoxyadenosine nucleotide (dAXP) levels as well as immunologic monitoring.

Type of SCID:

ADA SCID

Location:

Multiple locations across the US

ClinicalTrials.gov Identifier: NCT03878069

Contact:

Chiesi Clinical Trial Info +39.0521 2791 clinicaltrials_info@chiesi.com

8. Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning

Brief Summary:

This is a phase I/II open label multi-center study in which patients will receive low dose targeted busulfan followed by infusion of autologous CD34+ selected bone marrow or mobilized peripheral blood cells transduced with the G2SCID vector. Subjects will be enrolled over 3 years and be followed for 2 years post-infusion on this protocol, then followed long-term on a separate long-term follow-up protocol.

Type of SCID:

SCID-X1, XSCID, X-linked

Locations:

Multiple Locations across the US and in the UK

ClinicalTrials.gov Identifier: NCT03311503

Contact:

Colleen Dansereau 6179197008 colleen.dansereau@childrens.harvard.edu

Investigators:

Study Chair: Sung-Yun Pai, MD National Institutes of Health (NIH)

9. Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency

Brief Summary:

Severe combined immunodeficiency disorder (SCID) is a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function, resulting in lack of both cellular and humoral immunity. SCID arises from a variety of molecular defects which affect lymphocyte development and function. The most common form of SCID is an X-linked form (SCID-X1), which accounts for 30-50% of all cases. SCID-X1 is caused by defects in the common cytokine receptor gamma chain, which was originally identified as a component of the high affinity interleukin-2 receptor (IL2RG).

Allogeneic haematopoietic stem cell transplantation (HSCT), which replaces the patient’s bone marrow with that of a healthy donor, is the only treatment that definitively restores the normal function of the bone marrow. HSCT is the first choice of treatment for patients with signs of bone marrow failure and a fully-matched related donor. However, patients without a fully-matched related donor have much worse overall outcomes from HSCT.

This study will investigate whether patients with SCID-X1 without a fully matched related donor may benefit from gene therapy. To do this the investigators propose to perform a phase I/II clinical trial to evaluate the safety and efficacy (effect) of gene therapy for SCID-X1 patients using a lentivirus delivery system containing the IL2RG gene. Up to 5 eligible SCID-X1 patients will undergo mobilisation and harvest of their haematopoietic stem precursor cells (HPSCs). In the laboratory the disabled lentivirus will be used to insert a normal human IL2RG gene into the patient’s harvested HPSCs. Patients will receive chemotherapy conditioning prior to cell infusion, in order to enhance grafting. The genetically corrected stem cells will then be re-infused into the patient. Patients will be followed up for 2 years. This trial will determine whether gene therapy for SCID-X1 using a lentiviral vector is safe, feasible and effective.

Type of SCID:

SCID -X1, XSCID, X-linked,

Location:

Great Ormond Street Hospital for Children NHS Foundation Trust
London, Greater London, United Kingdom, WC1N 3JH

ClinicalTrials.gov Identifier: NCT03601286

Investigators:

Claire Booth, Dr UCL Great Ormond Street Institute of Child Health
Adrian Thrasher, Prof UCL Great Ormond Street Institute of Child Health

Contacts:

Claire Booth, MBBS, MRCPCH, MSc, PhD c.booth@ucl.ac.uk
Kajal Soni, BSc 020 8138 7730 k.soni@ucl.ac.uk

10. Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants (LVXSCID-ND)

Brief Summary:

SCID-X1 is a genetic disorder of blood cells caused by DNA changes in a gene that is required for the normal development of the human immune system. The purpose of this study is to determine if a new method, called lentiviral gene transfer, can be used to treat SCID-X1. This method involves transferring a normal copy of the common gamma chain gene into the participant’s bone marrow stem cells. The investigators want to determine if the procedure is safe, whether it can be done according to the methods they have developed, and whether the procedure will provide a normal immune system for the patient. It is hoped that this type of gene transfer may offer a new way to treat children with SCID-X1 that do not have a brother or sister who can be used as a donor for stem cell transplantation.

Type of SCID:

SCID-X1, XSCID, X-linked

Locations:

Multiple locations across the US

ClinicalTrials.gov Identifier: NCT01512888

Investigators:

Principal Investigator: Stephen Gottschalk, MD St. Jude Children’s Research Hospital

Contacts:

Stephen Gottschalk, MD 901-595-2166 stephen.gottschalk@stjude.org
Ewelina Mamcarz, MD 901-595-8343 ewelina.mamcarz@stjude.org

11. SUSPENDED Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)

Brief Summary:

This is a non-randomized clinical trial of gene transfer using a self-inactivating, insulated, lentiviral gene transfer vector to treat 23 patients with X-linked severe combined immunodeficiency (XSCID, also called SCID-X1) who are between 2 and 40 years of age; who do not have a tissue matched sibling who can donate bone marrow for a transplant; who may have failed to obtain sufficient benefit from a previous half-tissue matched bone marrow transplant; and who have clinically significant impairment of immunity. A patient s own precursor cells (also called blood stem cells) that give rise in the marrow to blood and immune cells will have been or will be collected from the patient s blood or bone marrow. A patient will not proceed to gene transfer treatment in this protocol until there are at least 3 million blood stem cells per kilogram body weight collected from the patient.

At the NIH the patient blood stem cells will be cells collected previously under NIH protocol 94-I-0073 or collected on this protocol. In most cases the harvested blood stem cells are put into frozen storage before use in this protocol. When the patient enrolled in this protocol has the required number of blood stem cells harvested, then the patient s blood stem cells will be grown in tissue culture and exposed to the lentiviral gene transfer vector containing the corrective gene. These gene corrected blood stem cells will be administered by vein to the patient. To increase engraftment of the corrected blood stem cells, patients will receive on 2 days before the gene transfer treatment a chemotherapy drug called busulfan at a total dose of 6 mg/kilogram body weight (3 mg/kilogram body weight/daily times 2 days) that is a little more than one- third the dose used in many standard bone marrow transplants. Patients will also be given another drug called palifermin that helps prevent the main side effect from the busulfan that is a type of inflammation the mouth, stomach and bowels called mucositis. After this treatment, patients will be monitored to see if the treatment is safe and whether their immune system improves. Patients will be followed at frequent intervals for the first 2 years, and less frequently thereafter so that the effectiveness in restoration of immune function and the safety of the treatment can be evaluated.

Types of SCID:

SCID-X1, XSCID, X-linked

Locations:

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

ClinicalTrials.gov Identifier: NCT01306019

Investigators:

Principal Investigator: Suk S De Ravin, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Contacts:

Lee C England, P.A.-C (240) 858-3649 lee.england@nih.gov
Suk S De Ravin, M.D. (301) 496-6772 sderavin@mail.nih.gov

12. Gene Therapy for X Linked Severe Combined Immunodeficiency

Brief Summary:

A safety and efficacy clinical study of a lentiviral vector to transfer IL2RG complementary DNA to bone marrow stem cells in ten children with genetic diagnosed X-SCID(severe combined immune deficiency ).The ten children will be followed for 3-5 years and be evaluated by clinical characteristics, vector marking (vector copy number per cell) in blood and bone marrow cells, immune reconstitution vector insertion-site patterns and so on.

Types of SCID:

SCID-X1, XSCID, X-linked

Locations:

Children’s Hospital of Chongqing Medical University
Chongqing, Chongqing, China, 400014

ClinicalTrials.gov Identifier: NCT04286815

Contacts:

Xiaodong Zhao, PHD 18623070626 zhaoxd530@aliyun.com
Qiling Xu, MD 18581059910 272864835@qq.com

13. Genetic Basis of Immunodeficiency

Observational Study

Brief Summary:

This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID).

Patients with immunodeficiencies may be eligible for this study. Candidates include:

Patients with diminished numbers of T cells or NK cells or both, or
Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function.
Relatives of patients will also be studied.

Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.

Types of SCID:

Unknown SCID. Index cases to be included are those with diminished numbers of T cells and/or NK cells and/or B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied.

Locations:

National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892

Investigators:

Principal Investigator: Warren J Leonard, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Contact:

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 ccopr@nih.gov

14. Evaluation of Patients With Immune Function Abnormalities

Observational

Brief Summary:

This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.

Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients’ parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.

Patients:

Patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction are eligible for screening and baseline assessment under this protocol.

Of particular focus of this study are patients with clinical features or medical history suggestive of Chronic Granulomatous Disease (CGD), X-linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD) or chronic Graft versus Host Disease (cGvHD).

Location:

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

ClinicalTrials.gov Identifier: NCT00128973

Investigator:

Harry L Malech, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Contacts:

Patricia L Littel, R.N. (301) 335-1744 plittel@mail.nih.gov
Harry L Malech, M.D. (301) 480-6916 hmalech@nih.gov

15. Participation in a Research Registry for Immune Disorders

Observational

Brief Summary:

Background:

  • People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection. The Immune Deficiency Foundation has a network to collect data about people with PIDD. It is called the United States Immunodeficiency Network. It will help doctors and scientists better understand these disorders. The goal is to get medical data for everyone with these disorders in the U.S. and Canada. Data will be stored in a registry. Researchers can use it to study if these disorders are increasing. They can also learn how the disorders are diagnosed and treated.

Objectives:

  • To collect data on people with primary immune deficiency disorders.

Patients:

People who have a PIDD.

Location:

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

ClinicalTrials.gov Identifier: NCT01953016

Investigator:

Elizabeth K Garabedian, R.N. National Human Genome Research Institute (NHGRI)

Contact:

Elizabeth K Garabedian, R.N. (301) 435-2443 garabede@mail.nih.gov

16. Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products

Observational

Brief Summary:

This protocol (GENEFU) provides a mechanism for the 15-year followup period that the FDA requires for all participants in gene transfer protocols and assures that adequate followup can be maintained for a wide variety of participants on different individual gene therapy protocols at St. Jude Children’s Research Hospital.

Patients:

Gene therapy recipient patient who has received an integrating retroviral or lentiviral vector based GT/GM product at St. Jude Children’s Research Hospital within the past 15 year time period.

Locations:

St. Jude Children’s Research Hospital
Memphis, Tennessee, United States, 38105

ClinicalTrials.gov Identifier: NCT00695279

Investigator:

Stephen Gottschalk, MD St. Jude Children’s Research Hospital

Contact:

Stephen Gottschalk, MD 866-278-5833 referralinfo@stjude.org

17. Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

Brief Summary:

This is a standard of care treatment guideline for allogeneic hematopoetic stem cell transplant (HSCT) in patients with primary immune deficiencies.

Patients:

Omenn’s Syndrome
Reticular Dysgenesis
Wiskott-Aldrich Syndrome
Bare Lymphocyte Syndrome
Common Variable Immunodeficiency
Chronic Granulomatous Disease
CD40 Ligand Deficiency
Hyper IgM Syndrome
X-linked Lymphoproliferative Disease
Hemophagocytic Lymphohistiocytosis
Griscelli Syndrome
Chediak-Higashi Syndrome
Langerhan’s Cell Histiocytosis

Location:

Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States, 55455

ClinicalTrials.gov Identifier: NCT01652092

Investigator:

Angela R. Smith, M.D. Masonic Cancer Center, University of Minnesota

Contact:

Angela R. Smith, M.D. 612-626-2778 smith719@umn.edu

18. Immune Disorder HSCT Protocol

Brief Summary:

This study hypothesizes that a reduced intensity immunosuppressive preparative regimen will establish engraftment of donor hematopoietic cells with acceptable early and delayed toxicity in patients with immune function disorders. A regimen that maximizes host immune suppression is expected to reduce graft rejection and optimize donor cell engraftment.

Patients:

Immune Deficiency Disorders
Severe Combined Immunodeficiency
Chronic Granulomatous Disease
X-linked Agammaglobulinemia
Wiskott-Aldrich Syndrome
Hyper-IgM
DiGeorge Syndrome
Chediak-Higashi Syndrome
Common Variable Immune Deficiency
Immune Dysregulatory Disorders
Hemophagocytic Lymphohistiocytosis
IPEX
Autoimmune Lymphoproliferative Syndrome
X-linked Lymphoproliferative Syndrome

Locations:

Washington University
Saint Louis, Missouri, United States, 63110

Methodist Heathcare
San Antonio, Texas, United States, 78229

ClinicalTrials.gov Identifier: NCT01821781

Investigator:

Jeffrey Bednarski, MD   

Contacts:

Jeffrey Bednarski, MD 314-454-6018 Bednarski_J@kids.wustl.edu
Lisa Murray, CCRP 314-454-4240 Murray_L@kids.wustl.edu

19. Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation

Brief Summary:

In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum effective dose required for reliable engraftment for subjects undergoing hematopoietic stem cell transplantation for non-malignant disease.

Patients:

Bone Marrow Failure Syndrome
Thalassemia
Sickle Cell Disease
Diamond Blackfan Anemia
Acquired Neutropenia in Newborn
Acquired Anemia Hemolytic
Acquired Thrombocytopenia
Hemophagocytic Lymphohistiocytoses
Wiskott-Aldrich Syndrome
Chronic Granulomatous Disease
Common Variable Immunodeficiency
X-linked Lymphoproliferative Disease
Severe Combined Immunodeficiency
Hurler Syndrome
Mannosidosis
Adrenoleukodystrophy

Location:

UF Health Shands Children’s Hospital
Gainesville, Florida, United States, 32608

ClinicalTrials.gov Identifier: NCT03513328

Investigator:

Biljana Horn, MD University of Florida

Contact:

Giselle Moore-Higgs, PhD 3522739050 mooregj@ufl.edu

20. The Mechanistic Biology of Primary Immunodeficiency Disorders

Observational

Brief Summary:

Background:

Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life. Other kinds are severe and can be identified shortly after birth. Researchers want to learn more about PIDs by comparing data from relatives and healthy volunteers to people with a PID.

Objective:

To learn more about PIDs, including their genetic causes.

Patients:

Person with a clinical diagnosis of a PID

Location:

National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892

ClinicalTrials.gov Identifier: NCT03394053

Investigator:

Luigi D Notarangelo, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Contact:

Vanessa Bundy, MD 202-476-3016 vbundy2@childrensnational.org

21. Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (HSCT+RIC)

Brief Summary:

The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). After transplant, subjects will be followed for late effects and for ongoing graft success.

Patients:

Primary Immunodeficiency (PID)
Congenital Bone Marrow Failure Syndromes
Inherited Metabolic Disorders (IMD)
Hereditary Anemias
Inflammatory Conditions

Location:

UPMC Children’s Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224

ClinicalTrials.gov Identifier: NCT01962415

Investigator:

Paul Szabolcs, MD University of Pittsburgh

Contacts:

Paul Szabolcs, MD 412-692-5427paul.szabolcs@chp.edu

Shawna McIntyre, RN 412-692-5552mcintyresm@upmc.edu

22. Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC (PRO-RIC)

Observational

Brief Summary:

This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.

Patients:

Primary Immunodeficiency (PID)
Congenital Bone Marrow Failure Syndromes
Inherited Metabolic Disorders (IMD)
Hereditary Anemias
Inflammatory Conditions

Location:

UPMC Children’s Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224

ClinicalTrials.gov Identifier: NCT04528355

Investigator:

Paul Szabolcs, MD University of Pittsburgh

Contacts:

Paul Szabolcs, MD 412-692-5427paul.szabolcs@chp.edu

Shawna McIntyre, RN 412-692-5552mcintyresm@upmc.edu

23. Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders

Observational

Brief Summary:

Background:

National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in this system can make a person sick.
To study the cells of patients who have problems with their immune systems, researchers would like to collect samples of skin cells from patients with immune system disorders and compare them with skin cells taken from healthy volunteers. By studying these cells, researchers hope to determine whether these cells can be modified to create a new kind of personalized gene therapy that would attempt to cure immune diseases in the future.
Objectives:

To obtain skin cells from patients with immune system disorders and from healthy volunteers for research and comparison purposes.

Patients:

Primary Immunodeficiency
DOCK8
Virus Susceptibility

Location:

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

ClinicalTrials.gov Identifier: NCT00895271

Investigator:

Helen C Su, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Contact:

Sandra M Maxwell, R.N. (240) 627-3078 maxwells@mail.nih.gov
Helen C Su, M.D. (301) 451-8783 hsu@mail.nih.gov