Clinical trials: Metabolic Bone Disease
Hypophosphatasia
Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP)
This clinical trial is being conducted in Hypophosphatasia, a bone disorder caused by gene mutation(s) resulting in bone defects. These gene mutations cause low levels of an enzyme needed to harden bone.
- Trial name
- NCT02496689
- Testing
- asfotase alfa
- Where
- 5 sites in United States, France
- Sponsor
- Alexion Pharmaceuticals, Inc.
Fanconi Anemia
FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector
This is a Phase I/II clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene.
- Trial name
- NCT03351868
- Testing
- Gene-modified autologous stem cells
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Osteoporosis
Treatment of Childhood Osteoporosis With Alendronate (Fosamax)
Bones grow and stay strong through a continuous process of formation (building) and resorption (break down). When more bone is formed than resorbed, the density (level of calcium) in bone increases and the bones become stronger.
- Trial name
- NCT00001720
- Testing
- Alendronate
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Sarcopenia, Osteoporosis
Efficacy of Structured Exercise-Nutritional Intervention on Sarcopenia in Patients With Osteoporosis
This is a prospective parallel group, double-blinded randomized controlled trial. Subjects are randomized into two groups - the intervention group and waitlist control group.
- Trial name
- NCT06287502
- Testing
- β-hydroxy β-methylbutyrate (HMB), Resistance, aerobic, flexibility and balance exercise training
- Where
- Hong Kong
- Volunteers
- 13 people
- Sponsor
- Kowloon Hospital, Hong Kong
Vitamin D Deficiency
Impact of Vitamin D Status on Bones in Breastfed Infants
Vitamin D deficiency is widespread and linked to decreased bone mineral content. Little data exists regarding the vitamin D status and the relationship of 25-hydroxyvitamin D (25-OHD) status to functional bone health outcomes in…
- Trial name
- NCT00697294
- Testing
- Tri-Vi-Sol
- Where
- 3 sites in United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
X-Linked Hypophosphatemia
A Study to Describe the Lived Experience of XLH for Adolescents at End of Skeletal Growth
An observational, prospective, mixed-methods study involving the integration of quantitative and qualitative data exploring the lived experience of burosumab-treated adolescents with XLH at the end of skeletal growth.
- Trial name
- NCT05181839
- Testing
- Burosumab
- Where
- 14 sites in France, Germany and 3 more
- Volunteers
- 25 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Fanconi Anemia, Unspecified Adult Solid Tumor, Protocol Specific
Tissue Sample Collection From Patients With Fanconi Anemia
RATIONALE: Collecting and storing samples of tumor tissue from patients with Fanconi anemia to test in the laboratory may help the study of cancer in the future.
- Conditions
- Fanconi Anemia, Unspecified Adult Solid Tumor, Protocol Specific, Unspecified Childhood Solid Tumor, Protocol Specific
- Trial name
- NCT00899522
- Testing
- biologic sample preservation procedure, biopsy
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- OHSU Knight Cancer Institute
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Fanconi Anemia
Eltrombopag for Fanconi Anemia
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly.
- Trial name
- NCT03206086
- Testing
- Eltrombopag
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
Fanconi Anemia
Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine
The purpose of this research study is to: (1) determine if the combination of low dose total body irradiation, low dose cyclophosphamide and the addition of fludarabine, and a serum to suppress the immune system can allow…
- Trial name
- NCT00595127
- Testing
- Cyclophosphamide, Fludarabine, Total body irradiation (TBI)
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Postmenopausal Osteoporosis
Quality of Life in Postmenopausal Women With Osteoporosis
The researchers will evaluate the effectiveness of a complex intervention composed of multiple actions targeting primary care healthcare workers and postmenopausal women with osteoporosis by means of a quasi-experimental design…
- Trial name
- NCT03970902
- Testing
- Integrated Osteoporosis Care, Care As Usual
- Where
- Belgium
- Volunteers
- 239 people
- Sponsor
- University Ghent
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Osteoporosis
The Effect of a Short Educational Program on Young Women's Knowledge and Beliefs About Osteoporosis
The purpose of the study is to determine the effect of a short educational program on young women's knowledge and beliefs about osteoporosis.
- Trial name
- NCT00464412
- Testing
- Education
- Volunteers
- 135 people, healthy volunteers welcome
- Sponsor
- Valdosta State University
Osteoporosis
Teriparatide (Forsteo) Treatment in Postmenopausal Women: Mechanism of Action
Previously the approach to treatment of osteoporosis has been to use medications which prevent excessive resorption of bone. More recently medications that build up new bone, i.e.
- Trial name
- Forsteo (NCT01293292)
- Testing
- Teriparatide
- Where
- United Kingdom
- Volunteers
- 19 people
- Sponsor
- Sheffield Teaching Hospitals NHS Foundation Trust
Anorexia Nervosa
Adrenal and Gonadal Hormone Replacement in Anorexia Nervosa
This study seeks to gain new information on why young women with anorexia nervosa are predisposed to early bone loss and osteoporosis.
- Trial name
- NCT00310791
- Testing
- Hormone replacement therapy (estrogen/progestin), Dehydroepiandrosterone (DHEA)
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Boston Children's Hospital
Childhood Acute Erythroleukemia (M6), Childhood Acute Megakaryocytic Leukemia (M7)
Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia
This research study is studying identification of de novo Fanconi anemia in younger patients with newly diagnosed acute myeloid leukemia.
- Conditions
- Childhood Acute Erythroleukemia (M6), Childhood Acute Megakaryocytic Leukemia (M7), Childhood Acute Minimally Differentiated Myeloid Leukemia (M0), Childhood Acute Monoblastic Leukemia (M5a)
- Trial name
- NCT01146210
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Children's Oncology Group
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University