단장증후군 환자를 위한 Eclipse XL1 시스템의 안전성과 효과를 살피는 치료 연구입니다.

All subjects will be assigned to the XL1 Coil treatment group.

The surgeon verifies the intestinal diameter and selects the appropriate device diameter size. The device is introduced into the lumen of the intestine and advanced about 5-10cm. The surgeon uses 4-0 chromic sutures placed in the seromuscular layer to secure the XL1 Coil within the intestine. The surgeon places metal clips on proximal and distal sutures and in the mesentery adjacent to the XL1 Coil ends to mark the location for radiologic evaluation. The surgeon releases the XL1 Coil and closes the enterotomy.

Distraction Enterogenesis in Adult Patients with Short Bowel Syndrome

모든 피험자는 XL1 코일 치료 그룹에 배정됩니다.

단장증후군 성인 환자의 장간막 형성술

Shweta Namjoshi, MD

Matthew Lin, MD

Anisha Abreo

Joseph Forrester, MD

Clarivet Torres, MD

Meghan Fitzgerald

Mark Puder, MD

Beth Cobb

Michael Helmrath, MD

Paul Wales, MD

단장증후군을 가진 성인 및 소아 환자에서 장 연장술을 위한 Eclipse XL1 시스템의 안전성 및 예상 효과를 평가하기 위한 타당성 연구

다운증후군 아동을 대상으로 2개월간 드럼 레슨이 자기 통제력과 타이밍 기술 향상에 미치는 영향을 연구하는 시험입니다.

Experimental group will receive the drumming lesson intervention between baseline and testing approximately 2 to 3 months later, so the effects of the intervention can be assessed in the lab measures.

Drumming lessons consisting of how to use hands to drum on djembe drum, using alternating hands to drum, drumming to a metronome and to music.

2 months of drumming lessons given by a professional drummer with extensive experience working with children with Down syndrome

Children in the Control condition will receive drumming lessons only after they have completed lab baseline and testing measures, about 2 to 3 months later.

Receiving lessons after the two lab visits should still offer any possible positive effects to participants while still allowing us to compare the Control group children's behaviors to those of the Experimental group.

Lessons after measurement

실험군은 기준선과 시험 사이에 약 2~3개월 후에 드럼 연주 레슨 개입을 받게 되므로, 실험실 측정을 통해 개입의 효과를 평가할 수 있습니다.

다운증후군 아동을 대상으로 광범위한 경험을 쌓은 전문 드러머가 제공하는 2개월간의 드럼 레슨

통제 조건에 있는 어린이는 실험실 기준선과 시험 측정을 완료한 후 약 2~3개월 후에만 드럼 레슨을 받게 됩니다.

측정 후의 교훈

Caroline Danforth, MS

Alison Rubin, BA

Amy Needham, PhD

Miriam Lense, PhD

드럼 레슨이 다운증후군 아동에게 미치는 영향

Busulfan and fludarabine

Recommended schedule as below:

* Days -6 to -3: Busulfan ≥ 9 mg/kg total dose (IV or PO) with pharmacokinetic (PK) monitoring recommended as per institutional practice to achieve a daily area under the curve (AUC) target of 4800-5300 μM\*min47 or busulfan plasma exposure units (BPEU) 19.7-21.75 mg x h/L48.
* Days -6 to -2: Flu 30 mg/m2/day (adjusted for renal function) is administered over a 30-60 minute IV infusion (maximum cumulative dose, 150 mg/m2).

Conditioning Regimen A

Fludarabine and TBI The recommended fludarabine plus TBI regimen is the following:

* Days -7, -6 and -5: Flu (30 mg/m2/day, maximum cumulative dose, 90 mg/m2), IV
* Days -4 to -1: TBI (150 cGy administered twice daily, 1200 cGy total dose)

  * Radiation sources, dose rates, and shielding follow institutional practice.
  * Although not required, it is recommended that palifermin be used to mitigate the risk of mucosal toxicity with this regimen.

Conditioning Regimen B

Fludarabine and busulfan (Flu/Bu)

The recommended Flu/Bu regimen is the following:

* Days -6 to -2: Flu (30 mg/m2/day, recommended total dose of 150 mg/m2, but not exceeding 180 mg/m2), IV Busulfan options
* Days -5 to -4: Busulfan without PK - Busulfan 3.2 mg/kg/day IV or oral equivalent; total dose of 6.4 mg/kg IV or oral equivalent respectively
* Days -5 to -4: Busulfan with PK - target doses to AUC of 4000 μMol/min or BPEU of 16.43 mg x h/L (total BPEU of 65.72 mg x h/L) or less is allowed.

Conditioning Regimen C

Fludarabine and melphalan (Flu/Mel)

The recommended Flu/Mel regimen is the following:

* Days -7 to -3: Flu (30 mg/m2/day or 25 mg/m2/day, total dose of 125-150 mg/m2), IV
* Day -1: Mel (100-140 mg/m2 IV for recipients aged 18-59; dose of melphalan cannot exceed 100mg/m2 if age 60 or older or calculated glomerular filtration rate (GFR) is \<60 ml/min), IV

Conditioning Regimen D

Fludarabine/cyclophosphamide/total body irradiation (Flu/Cy/TBI)

The recommended Flu/Cy/TBI regimen is the following:

* Days -6 to -5: Cy (14.5 mg/kg/day IV, total dose of 29 mg/kg, or single dose 50 mg/kg on Day -6 \[Minnesota regimen\])
* Days -6 to -2: Flu (30 mg/m2/day, total dose of 150 mg/m2) IV
* Day -1: TBI 200 cGy single dose Hydration and Mesna may be administered per institutional standards. For recipients of RIC/NMA AND donors matched at \<7/8, consider the addition of TBI 200-300cGy for the Flu/Bu and Flu/Mel regimens to mitigate the risk of primary graft failure.

Conditioning Regimen E

* On Day 0, the donor PBSC graft is infused.
* Donor PBSC will be collected per NMDP/donor registry policies with a target viable CD34+ cell dose of at least 4 × 106 /kg recipient weight (actual, ideal, or adjusted ideal per institutional practice).
* Dose of CD34+ cells/kg and CD3 cells/kg infused will be recorded.
* If the donor PBSC graft is cryopreserved prior to the start of conditioning, follow institutional practices to ensure a sufficient cell dose is available for infusion after thawing.
* The graft cannot be manipulated ex vivo to deplete T cells.

Hematopoietic Cell Transplantation

Cyclophosphamide (50mg/kg ideal body weight (IBW); \[if actual body weight (ABW) \< IBW, use ABW\]) will be given on Day +3 (between 60 and 72 hours after the start of the PBSC infusion) and on Day 4 post HCT (approximately 24 hours after Day +3 cyclophosphamide). Cyclophosphamide will be given as an intravenous (IV) infusion over 1-2 hours (depending on volume), or according to institutional standards. Hydration pre- and post- cyclophosphamide and Mesna administration will be given per institutional standards.

No systemic immunosuppressive agents are given until at least 24 hours after the completion of the PTCy. This includes corticosteroids as anti-emetics but excludes any drugs listed in section 7.9.1.

Azoles (e.g., posaconazole or voriconazole) must be delayed from beginning of conditioning through completion of Day 4 PTCy dose to avoid potential drug-drug interactions with cyclophosphamide that could lead to increased toxicity.

PTCy (50 mg/kg D3, D4)

Tacrolimus will be given per institutional practices, at a dose of 0.05 mg/kg per os (PO) or an IV dose of 0.03 mg/kg of IBW starting on Day + 5. The dose of tacrolimus may be rounded to the nearest 0.5 mg for oral formulations. Subsequent dosing will be based on blood levels per institutional guidelines with a suggested range of 5-12 ng/mL. If subjects are on medications which alter the metabolism of tacrolimus (e.g., concurrent CYP3A4 inhibitors), the initial starting dose and subsequent doses should be altered as per institutional practices. Tacrolimus taper is recommended to be initiated at 100 days post HCT if there is no evidence of active GVHD and ended by Day + 180 post HCT.

Post-transplant Tacrolimus

MMF will be given at a dose of 15 mg/kg 3 times daily (TID) (based upon actual body weight) with the maximum total daily dose not to exceed 3 grams (1g TID, IV or PO). MMF prophylaxis will start Day + 5 and continue until Day + 35 post-transplant, at which time it should be discontinued (no taper necessary). Study site investigators may modify dose/taper early if clinically indicated for the study subject. Dose rounding may be done per institutional practice.

Post-transplant Mycophenolate mofetil

Granulocyte colony-stimulating factor (G-CSF) to accelerate neutrophil recovery should be administered starting at Day +5 with dose, route of administration, formulation, and duration of administration following institutional guidelines. Filgrastim biosimilars are permissible, but granulocyte-macrophage colony-stimulating factors are not permissible.

Supportive Care: Growth Factors

Transfusion thresholds for blood product support will be consistent with standard institutional guidelines. All blood products must be irradiated.

Supportive Care: Blood Products

Subjects should receive infection prophylaxis according to institutional guidelines and in accordance with the Center for Disease Control (CDC) guidelines49. Infection prophylaxis will include, but is not limited to, agents or strategies (e.g., polymerase chain reaction \[PCR\] screening and preemptive therapy) to reduce the risk of bacterial, viral (e.g., adenovirus, CMV, EBV, herpes simplex), opportunistic (e.g. Pneumocystis jirovecii, Toxoplasma gondii) and fungal (yeast and mold) infections.

Infection risk should assess patient-, pathogen-, and immune-related factors that increase susceptibility to infection. Minimal parameters requiring prophylaxis include but are not limited to neutropenia (ANC≤500/μL), lymphopenia (ALC≤500/μL), and exposure to immunosuppression or GvHD. Use of intravenous immunoglobulin (IVIG) should be considered for total IgG\<400 mg/dL during exposure to immunosuppression and/or GvHD.

Supportive Care: Infection Prophylaxis

Intravenous immune globulin (IVIG) administration will be according to local institutional standard practice for hypogammaglobulinemia but is generally not recommended.

Supportive Care: Intravenous immune globulin (IVIG)

Subjects will receive busulfan seizure prophylaxis with levetiracetam, fosphenytoin, or lorazepam per institutional guidelines.

Supportive Care: Seizure prophylaxis

The use of HLA-mismatched PBSC has been associated with greater risk of CRS relative to bone marrow. Following the infusion of MMUD PBSC on Day 0, subjects should be monitored daily through Day 14 for the development of CRS. High index of suspicion is urged, particularly in the few days following infusion. Many sites have successfully intervened with tocilizumab in order to avoid severe or prolonged CRS. Supportive care is encouraged for CRS Grades 1-2 and tocilizumab (or alternative) is recommended for CRS grade 3-4 where subject outcome may be impacted (Appendix G - CRS Guidance and Management).

Supportive Care: Monitoring and management of CRS

The administration of study agents must be recorded in the subject's medical chart for verification of study treatment compliance.

Study treatment compliance

Prophylactic anti-viral cellular therapies and/or co-enrollment on studies using therapies for the prevention of GVHD is prohibited.

Subjects reported to have received prohibited therapy while on this study will be withdrawn and will not be included in the primary and secondary analyses.

No concomitant systemic immunosuppressive agents can be administered during PTCy (Day 3 and Day 4). If needed, administer at least 24 hours after completion of Day 4 PTCy.

It is crucial that no systemic immunosuppressive agents are given until at least 24 hours after completion of the Day +4 dose of PTCy. This includes corticosteroids as anti-emetics but excludes tacrolimus and MMF. Steroid use is permitted as pre-medication prior to start of conditioning but is prohibited from Day 0 through 24 hours post Day 4 PTCy administration.

If prohibited therapies are administered, these data must be reported in the study EDC on the Concomitant Medications form.

Prohibited Concomitant Therapy

Pre-medication and/or treatment for possible AEs related to PTCy are permitted. Subjects may continue all medications in compliance with local treatment center and local institutional guidelines, except those described in Section 7.9.1. If GVHD or infection occurs, enrollment on a clinical trial to treat infection or GVHD is permissible. At time of relapse, patients are permitted to enroll on a clinical trial or receive disease targeted therapy.

The following medications/therapies must be reported on the study EDC Concomitant Medications form:

* Medications taken to treat adverse events that have been reported on the study EDC Adverse Event form.
* Antimicrobial prophylaxis (viral, bacterial, fungal, parasitic).
* Antimicrobial pharmaceutical and cellular therapies used to treat grade II-III infections per BMT CTN grading criteria (Appendix D - BMT CTN Infection Grading).
* Post HCT, primary malignant disease-directed pharmaceutical and cellular therapies.
* Planned maintenance therapy

Permitted Concomitant Therapy

Cyclophosphamide (25mg/kg ideal body weight (IBW); \[if actual body weight (ABW) \< IBW, use ABW\]) will be given on Day +3 (between 60 and 72 hours after the start of the PBSC infusion) and on Day 4 post HCT (approximately 24 hours after Day +3 cyclophosphamide). Cyclophosphamide will be given as an intravenous (IV) infusion over 1-2 hours (depending on volume), or according to institutional standards. Hydration pre- and post- cyclophosphamide and Mesna administration will be given per institutional standards.

No systemic immunosuppressive agents are given until at least 24 hours after the completion of the PTCy. This includes corticosteroids as anti-emetics but excludes any drugs listed in Table 4 and Table 5 in Section 7.1.

Azoles (e.g., posaconazole or voriconazole) must be delayed from beginning of conditioning through completion of Day 4 PTCy dose to avoid potential drug-drug interactions with cyclophosphamide that could lead to increased toxicity.

PTCy (25 mg/kg D3, D4)

Abatacept will be given at a dose of 10 mg/kg with a maximum of 1000 mg.

Post-transplant Abatacept

Consider monitoring for EBV reactivation during abatacept treatment and continue for six months following HCT.

Consider monitoring and prophylaxis for CMV infection/reactivation during abatacept treatment and for six months following HCT.

Supportive Care: Prophylaxis against infections

Treatment with any other Investigational Medicinal Product (IMP) is not allowed while on study treatment. An IMP is defined as any medication without any known FDA-approved indications.

No other investigational drugs for GVHD are allowed.

Premedication and/or treatment for possible adverse events (AE)s related to abatacept are permitted.

Ruxolitinib will be given at a dose of 5 mg/kg twice daily starting at Day 30 post HCT, provided both the absolute neutrophil count (ANC) is \> 1000/μl and platelet count is \>30,000/μl.

Post-transplant Ruxolitinib

For participants receiving ruxolitinib, the recommended maximum dose of fluconazole daily is 200 mg.

Assess lipid levels 8-12 weeks from start of therapy with ruxolitinib and treat as needed.

Supportive Care: Lipid elevations

Treatment with any other Investigational Medicinal Product (IMP) is not allowed while on study treatment. An IMP is defined as any medication without any known FDA-approved indications.

Concomitant use of ruxolitinib with fluconazole doses of greater than 200 mg daily should be avoided.

No other investigational drugs for GVHD are allowed.

Premedication and/or treatment for possible AEs related to ruxolitinib are permitted.

Center for International Blood and Marrow Transplant Research

뇌경색과 당뇨를 가진 환자에게 전통 중의학 치료의 장기 효과를 관찰하는 연구로, 환자의 신경 손상과 생활능력 개선을 평가합니다.

On the basis of standard treatment, a combined treatment plan of TCM universal treatment and syndrome-specific treatment was given.

TCM universal treatment plan:

(Intensive treatment) Chuanzhi Tongluo Capsules (Lunan Pharmaceutical), 4 capsules each time, orally, 3 times a day; administration from day 1 to day 14 of the disease.

(Sequential treatment) Chuanzhi Tongluo Capsules (Lunan Pharmaceutical), 2 capsules each time, orally, 3 times a day; administration from day 15 to day 365.

TCM decoction: Individualized herbal decoction based on TCM diagnosis (four diagnostic methods), administered for 14 days during intensive phase.

4 capsules each time, orally, 3 times a day; administration from day 1 to day 14 of the disease.

(Intensive treatment) Chuanzhi Tongluo Capsules

2 capsules each time, orally, 3 times a day; administration from day 15 to day 365.

(Sequential treatment) Chuanzhi Tongluo Capsules

Individualized herbal decoction based on TCM diagnosis (four diagnostic methods), administered for 14 days during intensive phase.

TCM Syndrome Differentiation Decoction

Guideline-based treatment for cerebral infarction with diabetes: aspirin (100 mg/day) + clopidogrel (75 mg/day) + atorvastatin (20 mg/day) + metformin (500 mg bid). Other antiplatelet/antidiabetic drugs may be added per clinician discretion.

Combination therapy including: 1. Antiplatelet: aspirin 100 mg/day + clopidogrel 75 mg/day. 2. Lipid-lowering: atorvastatin 20 mg/day. 3. Antidiabetic: metformin 500 mg bid (max 2000 mg/day). \*Doses may be adjusted per local guidelines or patient tolerance.

Standard Treatment (Guideline-Based)

Guangzhou University of Traditional Chinese Medicine

레어노트에 환자 모임 등록

회원 모집 중

희귀난치성 질환 거짓부갑상선기능저하증 환우회입니다. 환자·보호자 분들과 소통하며 정보 공유를 하는 공간입니다.

<dl class="v3-editor-content-dictionary">
<dt>거짓 부갑상선기능저하증 이란?</dt>
<dd>거짓 부갑상선기능저하증은 부갑상선호르몬 수치는 정상이나 호르몬에 대한 부적절한 반응으로 특징되는 유전 질환입니다. 이러한 반응은 뼈 성장에 영향을 미칠 수 있습니다. X-염색체 연관 혹은 상염색체 우성 유전양식으로 유전됩니다.</dd>
<dd> </dd>
<dd><a href="rarenote://MedicalNewsDetail?id=a30039d0-4a44-44da-b6f1-d1a819dc0100">질환에 대해 더 알아보기</a></dd>
</dl>
'거짓부갑상선기능저하증 환우회' 는 국내 거짓 부갑상선기능저하증 환자와 보호자들을 위한 커뮤니티로, 2024년에 설립되었어요.
네이버 카페로 운영되며, 질환과 관련된 정보를 교류하고 소통할 수 있는 공간입니다.

거짓부갑상선기능저하증 환우회

네이버 카페

여러분은 혼자가 아닙니다. 힘내세요(Stay Strong), 계속 나아갑시다(Press on).

<dl class="v3-editor-content-dictionary">
<dt>알라질 증후군 이란?</dt>
<dd>알라질 증후군(Alagille's syndrome)은 간내 담도의 수가 현저하게 감소하고 담즙정체를 나타내며 심혈관계, 골격계, 안구, 안면, 췌장, 신경발달의 장애를 동반할 수 있는 증후군입니다.</dd>
<dd> </dd>
<dd><a href="rarenote://MedicalNewsDetail?id=d0179964-8d3b-41be-b7ac-e61810909f13">질환에 대해 더 알아보기</a></dd>
</dl>
'알라질 증후군 환우모임' 밴드는 국내 알라질 증후군 환자와 보호자들을 위한 커뮤니티로, 2025년에 설립되었어요.
네이버 밴드로 운영되며, 알라질 증후군 관련 정보를 교류하고 소통할 수 있는 공간입니다.

알라질 증후군 환우모임

네이버 밴드

비정형 용혈요독증후군 환우·보호자들이 모여있는 오픈 채팅방으로 질환 및 치료에 대한 정보를 공유하고, 일상을 공감합니다.

비정형 용혈요독증후군(aHUS) 카카오톡 오픈채팅방

오픈 채팅방

MPS 환우들의 환우들의 신약 접근성 강화와 치료환경 개선을 위한 다양한 사업을 시행합니다.

<dl class="v3-editor-content-dictionary">
<dt>헌터증후군이란</dt>
<dd>제2형 뮤코다당증인 헌터증후은 X염색체 열성으로 유전되는 리소좀 축적질환입니다.</dd>
<dd> </dd>
<dd><a href="rarenote://MedicalNewsDetail?id=b5670b46-7ff6-4fb4-9404-4556291924e5">헌터증후군에 대해 더 알아보기</a></dd>
<dd><a href="rarenote://MedicalNewsDetail?id=7d4a5c7c-1dc4-4364-996c-16de92374faf">뮤코다당증 1형에 대해 알아보기</a></dd>
<dd><a href="rarenote://MedicalNewsDetail?id=cfc6c8d6-2b62-4e53-ab16-3b91eebd6dc7">뮤코다당증 3~6형에 대해 알아보기</a></dd>
</dl>
한국뮤코다당증(MPS) 환우회는 7개 유형의 뮤코다당증으로 투병 중인 환우와 그 가족들이 함께 완치의 희망을 키워나가고 있는 단체로, 1998년에 설립되었어요.
뮤코다당증 1형(헐러, 샤이에, 헐러-샤이에 증후군), 2형(헌터 증후군), 3형(산필립포 증후군), 4형(모르키오 증후군), 5형(샤이에 증후군), 6형(마로토라미 증후군), 7형(슬라이 증후군) 환우 모두가 환우회의 가족입니다.
현재 네이버 밴드로 운영되는데요. 추후 홈페이지 신규 개설을 검토 중에 있습니다. 환우와 그 가족들이 갖는 정보 부족으로 인한 어려움을 조금이나마 덜어주고자, 질환에 대한 정보와 회원 간 정보 교류를 할 수 있는 공간입니다.
<dl class="v3-editor-content-point-search">환우회와 치료 여정을 함께하고 싶은 분들은 아래 카카오톡 오픈채팅방을 통해 주소를 문의해주세요 ✨</dl>

임상시험 현황

단장증후군 성인 환자의 분산성 장내생성

다운증후군 아동을 대상으로 풍부한 경험을 쌓은 전문 드러머가 제공하는 2개월간의 드럼 레슨, 측정 후 레슨

(집중치료) 천지동락캡슐, 표준치료(지침기반), (순차치료) 천지동락캡슐, 중의학 증후군 감별탕

환자 모임 정보