Severe Combined Immune Deficiency (SCID)Phase 1/2NCT04370795
Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus
A Phase 1/2 study testing Sirolimus, Busulfan and Horse -Anti-thymocyte in people with Severe Combined Immune Deficiency (SCID), run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: Severe combined immune deficiency (SCID) is a group of conditions where the immune system does not work properly. The only cure for most SCIDs is a stem cell transplant (getting cells from a donor). These transplants can have serious complications. Read more about this study
- Who is it for?
- Ages 3 to 40 years
- Conditions the study is for
- Severe Combined Immune Deficiency (SCID)
- What is being tested?
- Sirolimus, Busulfan and Horse -Anti-thymocyte
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Nov 2025to 26 Nov 2025
- Phase
- Phase 1/2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 40 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Must have confirmed genetic diagnosis of SCID (gamma c or JAK3 deficiency) by identification of a mutation in the responsible genes or by demonstrating failure to detect gamma c or JAK3 in immune blood cells (as in the case of patients who have been treated but now have waning immunity).
- Must have either evidence of waning immunity by T cell analysis, and/or sufficient complications from underlying disease to warrant undergoing transplantation as defined as meeting greater than or equal to1 of the following clinical criteria:
- i- Infections (not including molluscum, warts, or mucocutaneous candidiasis; see vii and viii below): 3 significant new or chronic active infections during the 2 years preceding evaluation for enrollment, with each infection accounting for one criterion.
- Infections are defined as an objective sign of infection (fever >38.3 (Infinite)C [101 degrees F] or neutrophilia or pain/redness/swelling or radiologic/ultrasound imaging evidence or typical lesion or histology or new severe diarrhea or cough with sputum production). In addition to one or more of these signs/symptoms of possible infection, there also must be at least 1 of the following criteria as evidence of the attending physician s intent to treat a significant infection (a and b) or objective evidence for a specific pathogen causing the infection (c):
- Treatment (not prophylaxis) with systemic antibacterial, antifungal or antiviral antibiotics for greater than or equal to 14 days; OR
- Hospitalization of any duration for infection; OR
Show all 41Show fewer
- Isolation of a bacteria, fungus, or virus from biopsy, skin lesion, blood, nasal washing, bronchoscopy, cerebrospinal fluid or stool likely to be an etiologic agent of infection.
- Chronic pulmonary disease as defined by:
- Bronchiectasis by x-ray computerized tomography; OR
- Pulmonary function test (PFT) evidence for restrictive or obstructive disease that is less than or equal to 60% of predicted for age; OR
- Pulse oximetry less than or equal to 94% in room air (if patient is too young to comply with performance of PFTs).
- Gastrointestinal enteropathy:
- Diarrhea-watery stools greater than or equal to 3 times per day (of at least 3 months duration that is not a result of infection as defined in criterion # i. above); OR
- Endoscopic evidence (gross and histologic) for enteropathy (endoscopy will only be performed if medically indicated); OR
- Other evidence of enteropathy or bacterial overgrowth syndrome, including at least one of the following: malabsorption of fat soluble vitamin(s), abnormal D-xylose absorption, abnormal hydrogen breath test, or evidence of protein-losing enteropathy (for example, increasingly high or frequent dosing of IV gamma globulin supplement required to maintain blood IgG level).
- Poor nutrition: Requires G-tube or IV feeding supplement to maintain weight or nutrition.
- Auto- or allo-immunity: Objective physical findings including but are not limited to at least one of the following: alopecia, severe rashes, uveitis, joint pain with redness or swelling or limitation of movement that is not a result of infection, lupus-like lesions, and granulomas (not including auto- or alloimmune enteropathy, which is criterion iii). Where possible and appropriate, diagnosis will be supported by histopathology or another diagnostic modality.
- Failure to grow in height: less than or equal to 3rd percentile for age.
- Skin molluscum contagiosum OR warts (this criterion is satisfied if molluscum consists of greater than or equal to 10 lesions or there are greater than or equal to 2 lesions at each of two or more widely separated anatomic sites; or there are greater than or equal to 3 warts at different anatomic sites at the same time; or the patient has both molluscum and warts).
- Mucocutaneous candidiasis (chronic oral thrush or candida esophagitis or candida intertriginous infection or candida nail infection; must be culture positive to satisfy this criterion).
- Hypogammaglobulinemia: Requires regular IgG supplementation.
- Aged 3-40 years, inclusive.
- Must have a 6/6 HLA-MRD graft available, or an HLA-matched unrelated PBSC graft (10/10 or 9/10 mismatch) available, or a minimum of 4/6 HLA-matched cord blood product available (if the cord blood graft is less than 5.0x10(7) cells, a second appropriate 4/6 or greater match cord blood product must be available).
- Mismatched MUD and Cord Blood transplants need to have Class I and II HLA antibody screen, DSA should be avoided.
- Must be HIV negative.
- Must be able to stay within 1 hour s travel of the NIH for the first 3 months after transplantation and have a family member or other designated companion to stay with during the post-transplant period.
- Must provide a durable power of attorney (DPA) for health care decisions to an appropriate adult relative or guardian in accordance to NIH-200 NIH Advance Directive for Health Care and Medical Research Participation .
- For participants of reproductive potential, must agree to consistently use highly effective contraception throughout study participation and for at least 3 months after the study.
- Acceptable forms of contraception are:
- For females:
- Condoms, male or female, with or without a spermicide;
- Diaphragm or cervical cap with spermicide;
- Intrauterine device;
- Contraceptive pills or patch, Norplant, Depo-Provera, or other FDA-approved contraceptive method;
- Male has previously undergone a vasectomy.
- For males: Condoms or other contraception with partner.
- Children: Children 3 years of age and older may enroll on this study because the condition under study affects children and the study holds the prospect for direct benefit.
- Pregnant and Lactating Women: Pregnant women are excluded from this study due to risks associated with the study intervention and the effects of the combination of conditioning medications (h-ATG, busulfan) and total body irradiation on the developing human fetus, including potential teratogenic or abortifacient effects.
- If a study participant or partner of a male subject becomes pregnant or suspects she is pregnant, the participant should notify the study staff immediately. A female participant who becomes pregnant will be withdrawn from the study as outlined below. If a female participant or a partner of a male participant becomes pregnant, the participant will have contact follow-up with the study team to document the outcome of the pregnancy.
- Because there is an unknown but potential risk for AEs in nursing infants secondary to the mother undergoing the study intervention, breastfeeding should be discontinued if the mother will undergo the study intervention.
- Decisionally Impaired Adults: Adults who are unable to consent are eligible for enrollment in this protocol because they still benefit clinically from the study. However, the participant must have a DPA that can give consent. Similarly, enrolled participants who lose the ability to provide ongoing consent during study participation may continue in the study. The risks and benefits of participation for adults unable to consent should be identical to those described for less vulnerable patients.
Who cannot join
- Eastern Cooperative Oncology Group (ECOG) or equivalent performance status of 3 or more (see ECOG performance status guidelines, available at https://ecog-acrin.
- org/resources/ecog-performance-status).
- Left ventricular ejection fraction <40%.
- Transaminases >5x upper limit of normal based on the patient s clinical situation and at the discretion of the investigator.
- Liver alkaline phosphatase >10x upper limit of normal based on the patient s clinical situation and at the discretion of the investigator.
- Psychiatric disorder or mental deficiency severe enough as to make compliance with the BMT treatment unlikely, and/or making informed consent impossible.
Show all 10Show fewer
- Major anticipated illness or organ failure incompatible with survival from alloPBSC, MUD, or unrelated cord blood transplant.
- Uncontrolled seizure disorder.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
- Pregnant or lactating females.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Background:
Severe combined immune deficiency (SCID) is a group of conditions where the immune system does not work properly. The only cure for most SCIDs is a stem cell transplant (getting cells from a donor). These transplants can have serious complications. Before the transplant, people often get high doses of drugs and radiation to prepare the body to accept the cells from the donor. Researchers want to see if low doses of drugs alone without radiation work just as well as low doses of drugs with radiation for SCID patients getting stem cell transplants.
Read more
Objective:
To test a set of drugs with or without radiation given before a stem cell transplant.
Eligibility:
People ages 3-40 who have SCID and who have a stem cell donor - either related or unrelated.
Design:
Participants will be admitted to the hospital 10 days before transplant. They will undergo:
medical history
medication review
physical exam
blood and urine tests (may include a 24-hour urine collection)
heart, lung, and breathing tests
imaging scans
bone marrow sample
nutrition assessment
dental exam
eye exam
meeting with a social worker.
Participants will get a plastic port called a central line. It is a hollow tube that is placed in the upper chest. It will be used to give medicines and take blood.
All participants will take chemotherapy drugs. Some will get radiation.
Participants will have a stem cell transplant. They will get the cells as an infusion through their central line. They will stay in the hospital for 30 days after transplant.
Participants must stay within 1 hour of NIH for 3 months after transplant. During this time, they will have follow-up visits at NIH at least once a week. Then they will have follow-up visits once or twice a year for 5-6 years.
Read the detailed description
This is an open-label pilot study of human leukocyte antigen (HLA)-matched related and unrelated donor hematopoietic stem cell (HSC) transplant (also referred to as peripheral blood stem cell [PBSC] transplant or bone marrow transplant [BMT]) for up to 20 patients with severe combined immune deficiency (SCID). SCID is most commonly caused by mutations in the IL2RG gene encoding the interleukin (IL) receptor signaling gamma chain (gamma c); however, patients with JAK-3 mutations have the same phenotypes and are similarly affected. The study population is older children (greater than or equal to 3 years of age) and adults (less than or equal to 40 years of age) who are experiencing deteriorating and/or dysfunctional immunity and/or any of a constellation of severe or chronic medical problems warranting transplantation. The study is designed to evaluate whether the use of uniquely designed transplant conditioning either containing total body irradiation (TBI) or not, along with a graft-versus-host disease (GvHD) prevention regimen achieves sufficient engraftment of donor HSCs to facilitate robust restoration of cellular immunity (T cell/natural killer [NK] cell number and function) including thymic function, and humoral immunity (B cell number and function), while at the same time enhancing tolerance of the donor graft in a fashion that reduces the occurrence of GvHD but not significantly enhancing the risk of post-transplant viral infection. One target population is SCID patients who received matched sibling or haploidentical lymphocyte-depleted transplants as infants with little or no myeloid conditioning, resulting in variable restoration of T cell immunity, but little or no restoration of NK or B cell immunity. Another target population is SCID patients with partial production or function of gamma c or JAK3 or SCID patients with clonal somatic reversion of the mutation in the IL2RG or JAK-3 gene, who have less severe immune deficiency in childhood. A subset of patients from all of these target SCID populations may experience progressive deterioration of immune function leading to acute and chronic medical problems that warrant consideration of allogeneic transplant to restore immunity.
The conditioning and GvHD prevention regimens for this HSC transplant protocol are designed to use mobilized PBSCs or bone marrow (if mobilization is not possible) from either an HLA-matched related donor (MRD) as first choice or from an HLA-matched unrelated donor (MUD) for those without an appropriate HLA-MRD. If there is no appropriate MRD nor MUD adult donor available, then an appropriate cord blood from the cord blood registries may be used for small children SCID recipients. We propose using a busulfan-based, nonmyeloablative conditioning regimen plus or minus TBI combined with horse anti-thymocyte globulin (h-ATG) immune suppression conditioning plus post-transplant sirolimus as a tolerance-inducing immunosuppressant to prevent GvHD.
- Conditions
- Severe Combined Immune Deficiency (SCID)
- Keywords
- Post-Transplant, Hematopoietic, Allogeneic, Graft-Versus-Host Disease, Irradiation
- Medical subject headings
- Severe Combined Immunodeficiency, Graft vs Host Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SirolimusDrug
Post transplant immunosuppressant drug
BusulfanDrug
Conditioning drug
Horse -Anti-thymocyteDrug
Immune suppression conditioning drug
G-CSFDrug
Used to prevent infection and neutropenic fevers caused by chemotherapy
Total Body Irradiation (TBI)Radiation
Conditioning (only patients in Group 1 will receive TBI)
| Study group | Role | What they receive |
|---|---|---|
| Group 1 | Active comparator | Patients will be treated with Total Body Irradiation (TBI) Receives: Drug: Sirolimus; Drug: Busulfan; Drug: Horse -Anti-thymocyte; Drug: G-CSF; Radiation: Total Body Irradiation (TBI) |
| Group 2 | Active comparator | Patients will not be treated with Total Body Irradiation (TBI) Receives: Drug: Sirolimus; Drug: Busulfan; Drug: Horse -Anti-thymocyte; Drug: G-CSF |
What is being measured
The primary outcome is the main question the study is designed to answer.
Engraftment rate of > 80%
Engraftment rate of greater than or equal to 80% of patients achieving greater than or equal to 50% stable myeloid chimerism with or without the use of TBI.
Measured: six months and one year
Engraftment with no grade 3 GvHD
Engraftment as such should not occur with any Grade 3 or higher acute GvHD at Day 100 nor occurrence of extensive chronic GvHD
Measured: Day 100 and one year
Secondary outcomes (2)
Donor B cell engraftment
Attain donor B cell engraftment >50% donor chimerism with absolute number of B cells >80% of lower limit of normal
Measured: one year post transplant
Donor T cell engraftment
Attain Donor T cell engraftment greater than or equal 30% donor chimerism with absolute number of T cells greater than or equal to 80% of lower limit of normal
Measured: one year post transplant
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 May 2020
- Study start26 Nov 2025
- Primary completion26 Nov 2025
- Study completion26 Nov 2025
Why it stopped: Lack of accrual
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Severe Combined Immune Deficiency (SCID)Studies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Elizabeth M Kang, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04370795
- Sponsor's protocol ID
- 200037
- Other IDs
- 20-I-0037
- Status last verified
- Nov 2025
- First submitted
- 30 Apr 2020
- Last updated
- 1 Dec 2025
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus
- ClinicalTrials.gov ID
- NCT04370795
- Acronym / sponsor ID
- 200037
- Conditions
- Severe Combined Immune Deficiency (SCID)
- Keywords
- Post-Transplant, Hematopoietic, Allogeneic, Graft-Versus-Host Disease, Irradiation
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: Lack of accrual
- Enrolment
- 0 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 26 Nov 2025 (actual)
- Primary completion
- 26 Nov 2025 (actual)
- Study completion
- 26 Nov 2025 (actual)
- First posted
- 1 May 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
Severe combined immune deficiency (SCID) is a group of conditions where the immune system does not work properly. The only cure for most SCIDs is a stem cell transplant (getting cells from a donor). These transplants can have serious complications. Before the transplant, people often get high doses of drugs and radiation to prepare the body to accept the cells from the donor. Researchers want to see if low doses of drugs alone without radiation work just as well as low doses of drugs with radiation for SCID patients getting stem cell transplants.
Objective:
To test a set of drugs with or without radiation given before a stem cell transplant.
Eligibility:
People ages 3-40 who have SCID and who have a stem cell donor - either related or unrelated.
Design:
Participants will be admitted to the hospital 10 days before transplant. They will undergo:
medical history
medication review
physical exam
blood and urine tests (may include a 24-hour urine collection)
heart, lung, and breathing tests
imaging scans
bone marrow sample
nutrition assessment
dental exam
eye exam
meeting with a social worker.
Participants will get a plastic port called a central line. It is a hollow tube that is placed in the upper chest. It will be used to give medicines and take blood.
All participants will take chemotherapy drugs. Some will get radiation.
Participants will have a stem cell transplant. They will get the cells as an infusion through their central line. They will stay in the hospital for 30 days after transplant.
Participants must stay within 1 hour of NIH for 3 months after transplant. During this time, they will have follow-up visits at NIH at least once a week. Then they will have follow-up visits once or twice a year for 5-6 years.
Detailed description
This is an open-label pilot study of human leukocyte antigen (HLA)-matched related and unrelated donor hematopoietic stem cell (HSC) transplant (also referred to as peripheral blood stem cell [PBSC] transplant or bone marrow transplant [BMT]) for up to 20 patients with severe combined immune deficiency (SCID). SCID is most commonly caused by mutations in the IL2RG gene encoding the interleukin (IL) receptor signaling gamma chain (gamma c); however, patients with JAK-3 mutations have the same phenotypes and are similarly affected. The study population is older children (greater than or equal to 3 years of age) and adults (less than or equal to 40 years of age) who are experiencing deteriorating and/or dysfunctional immunity and/or any of a constellation of severe or chronic medical problems warranting transplantation. The study is designed to evaluate whether the use of uniquely designed transplant conditioning either containing total body irradiation (TBI) or not, along with a graft-versus-host disease (GvHD) prevention regimen achieves sufficient engraftment of donor HSCs to facilitate robust restoration of cellular immunity (T cell/natural killer [NK] cell number and function) including thymic function, and humoral immunity (B cell number and function), while at the same time enhancing tolerance of the donor graft in a fashion that reduces the occurrence of GvHD but not significantly enhancing the risk of post-transplant viral infection. One target population is SCID patients who received matched sibling or haploidentical lymphocyte-depleted transplants as infants with little or no myeloid conditioning, resulting in variable restoration of T cell immunity, but little or no restoration of NK or B cell immunity. Another target population is SCID patients with partial production or function of gamma c or JAK3 or SCID patients with clonal somatic reversion of the mutation in the IL2RG or JAK-3 gene, who have less severe immune deficiency in childhood. A subset of patients from all of these target SCID populations may experience progressive deterioration of immune function leading to acute and chronic medical problems that warrant consideration of allogeneic transplant to restore immunity.
The conditioning and GvHD prevention regimens for this HSC transplant protocol are designed to use mobilized PBSCs or bone marrow (if mobilization is not possible) from either an HLA-matched related donor (MRD) as first choice or from an HLA-matched unrelated donor (MUD) for those without an appropriate HLA-MRD. If there is no appropriate MRD nor MUD adult donor available, then an appropriate cord blood from the cord blood registries may be used for small children SCID recipients. We propose using a busulfan-based, nonmyeloablative conditioning regimen plus or minus TBI combined with horse anti-thymocyte globulin (h-ATG) immune suppression conditioning plus post-transplant sirolimus as a tolerance-inducing immunosuppressant to prevent GvHD.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group 1 | Active comparator | Drug: Sirolimus, Drug: Busulfan, Drug: Horse -Anti-thymocyte, Drug: G-CSF, Radiation: Total Body Irradiation (TBI)Patients will be treated with Total Body Irradiation (TBI) |
| Group 2 | Active comparator | Drug: Sirolimus, Drug: Busulfan, Drug: Horse -Anti-thymocyte, Drug: G-CSFPatients will not be treated with Total Body Irradiation (TBI) |
Who may qualify
- Ages
- 3 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (41 listed)
- Must have confirmed genetic diagnosis of SCID (gamma c or JAK3 deficiency) by identification of a mutation in the responsible genes or by demonstrating failure to detect gamma c or JAK3 in immune blood cells (as in the case of patients who have been treated but now have waning immunity).
- Must have either evidence of waning immunity by T cell analysis, and/or sufficient complications from underlying disease to warrant undergoing transplantation as defined as meeting greater than or equal to1 of the following clinical criteria:
- i- Infections (not including molluscum, warts, or mucocutaneous candidiasis; see vii and viii below): 3 significant new or chronic active infections during the 2 years preceding evaluation for enrollment, with each infection accounting for one criterion.
- Infections are defined as an objective sign of infection (fever >38.3 (Infinite)C [101 degrees F] or neutrophilia or pain/redness/swelling or radiologic/ultrasound imaging evidence or typical lesion or histology or new severe diarrhea or cough with sputum production). In addition to one or more of these signs/symptoms of possible infection, there also must be at least 1 of the following criteria as evidence of the attending physician s intent to treat a significant infection (a and b) or objective evidence for a specific pathogen causing the infection (c):
- Treatment (not prophylaxis) with systemic antibacterial, antifungal or antiviral antibiotics for greater than or equal to 14 days; OR
Key exclusion criteria (10 listed)
- Eastern Cooperative Oncology Group (ECOG) or equivalent performance status of 3 or more (see ECOG performance status guidelines, available at https://ecog-acrin.
- org/resources/ecog-performance-status).
- Left ventricular ejection fraction <40%.
- Transaminases >5x upper limit of normal based on the patient s clinical situation and at the discretion of the investigator.
- Liver alkaline phosphatase >10x upper limit of normal based on the patient s clinical situation and at the discretion of the investigator.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SirolimusPost transplant immunosuppressant drug | Drug | Group 1, Group 2 |
| BusulfanConditioning drug | Drug | Group 1, Group 2 |
| Horse -Anti-thymocyteImmune suppression conditioning drug | Drug | Group 1, Group 2 |
| G-CSFUsed to prevent infection and neutropenic fevers caused by chemotherapy | Drug | Group 1, Group 2 |
| Total Body Irradiation (TBI)Conditioning (only patients in Group 1 will receive TBI) | Radiation | Group 1 |
Primary outcome
Engraftment rate of > 80%
Time frame: six months and one year
Engraftment rate of greater than or equal to 80% of patients achieving greater than or equal to 50% stable myeloid chimerism with or without the use of TBI.
Engraftment with no grade 3 GvHD
Time frame: Day 100 and one year
Engraftment as such should not occur with any Grade 3 or higher acute GvHD at Day 100 nor occurrence of extensive chronic GvHD
2 secondary outcomes
Donor B cell engraftment
Time frame: one year post transplant
Donor T cell engraftment
Time frame: one year post transplant
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2025.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Severe Combined Immune Deficiency (SCID)
RecruitingObservational study
Genetic Basis of Immunodeficiency
Severe Combined Immunodeficiency
RecruitingPhase 1/2
Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
X-linked Severe Combined Immunodeficiency (XSCID)
Not yet recruitingPhase 1/2
SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection
SCID, X-Linked
Not yet recruiting
Gene Therapy for ADA-SCID Using an Improved Lentiviral Vector (Ivlv-ADA)
Adenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)
Enrolling by invitationObservational study
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Primary Immunodeficiency, DOCK8
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Elizabeth M Kang, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Sirolimus, Busulfan and Horse -Anti-thymocyte in people with Severe Combined Immune Deficiency (SCID), run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 41 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 1 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Engraftment rate of > 80% (time frame: six months and one year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Dec 2025.