Clinical trials: X-linked Hypophosphatemia
X-linked Hypophosphatemia (XLH)
Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Paediatric Patients from Birth to Less than 1 Year of Age with X-linked Hypophosphatemia…
- Trial name
- NCT04188964
- Testing
- Burosumab
- Where
- 9 sites in Austria, France and 4 more
- Volunteers
- 16 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Hypophosphatemic Rickets, X-Linked Dominant
Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets
This study will measure the effect of cinacalcet (Sensipar) on parathyroid hormone (PTH) secretion in children and adolescents with hypophosphatemic rickets (XLH).
- Trial name
- NCT00195936
- Testing
- Cinacalcet
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Children's Mercy Hospital Kansas City
X-Linked Hypophosphatemic Rickets
Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH
X-linked hypophosphataemia (XLH) is a rare genetic disorder associated with increased circulating levels of the hormone FGF23, most commonly through mutation of the PHEX gene.
- Trial name
- FLAM-XLH (NCT06248632)
- Testing
- Expression of inflammatory markers (Il6, Il8, Il1β, CXCL1, CCL2, CXCR3, Il1R, Il6R)
- Volunteers
- 20 people
- Sponsor
- Hospices Civils de Lyon
Hypophosphatemia, X-linked Hypophosphatemia
FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)
Hereditary hypophosphatemia encompasses rare genetic conditions characterized by renal phosphate wasting. Increased circulating levels of fibroblast growth factor 23 (FGF23), a key regulator of phosphorus metabolism, are critical…
- Conditions
- Hypophosphatemia, X-linked Hypophosphatemia, Renin-angiotensin System, Left Ventricular Hypertrophy
- Trial name
- GAP (NCT03489993)
- Testing
- Ang II and Ang-(1-7), FGF23 and klotho
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Wake Forest University Health Sciences
X-linked Hypophosphatemia
Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is the most common form of heritable rickets. Current treatments include active vitamin D metabolites (e.g. calcitriol) and phosphate salts.
- Trial name
- NCT03820518
- Testing
- Calcitriol
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Peking Union Medical College Hospital
X-linked Hypophosphatemic Rickets/Osteomalacia
A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
Before switching to the post-marketing study: To evaluate the efficacy and safety of KRN23 administered subcutaneously once every 2 weeks in children with X-linked hypophosphatemic rickets/osteomalacia(XLH).
- Trial name
- NCT03233126
- Testing
- KRN23
- Where
- 4 sites in Japan
- Volunteers
- 16 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
X-linked Hypophosphatemia
Examining the Effect of Burosumab on Muscle Function
Patients with X-linked hypophosphatemia (XLH) often report symptoms of fatigue and weakness particularly after exertion, in addition to their skeletal complaints.
- Trial name
- NCT04146935
- Testing
- Burosumab Injection [Crysvita]
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Yale University
X-linked Hypophosphatemia (XLH)
Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia : a RCT
This study is a prospective, randomized, single-blind, split-mouth, national multicenter trial, comparing the efficacy of a self-etch adhesive system combined (SAM) with a flowable composite to that of a fluoride varnish for the…
- Trial name
- PRADEX (NCT04872907)
- Testing
- adhesive system, fluoride varnish, flowable composite
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Familial Hypophosphatemic Rickets
Calcimimetics in Hypophosphatemic Rickets
Currently, large oral doses of phosphate and 1,25(OH)2D (calcitriol) are the standard treatment of patients with familial hypophosphatemic rickets (XLH).
- Trial name
- CHR (NCT00844740)
- Testing
- Cinacalcet
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
X-linked Hypophosphatemia
A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia
The primary purpose of this study is to assess the safety and efficacy of repeated subcutaneous (SC) injections of KRN23 in adult subjects with X-Linked Hypophosphatemia (XLH).
- Trial name
- NCT01340482
- Testing
- KRN23
- Where
- 6 sites in United States, Canada
- Volunteers
- 29 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Hypophosphatemic Rickets, X Linked Dominant
Calcitonin for Treating X-linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is the most common form of inherited rickets in the United States. It also causes bone disease in adults.
- Trial name
- NCT01652573
- Testing
- nasal salmon calcitonin
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Yale University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Rare Diseases, X-linked Hypophosphatemia
Burosumab in Children and Adolescents With X-linked Hypophosphatemia
In this prospective longitudinal cohort study we studied the efficacy and safety of burosumab in real-clinical practice for <13- and >13-years old children affected with X-linked hypophosphatemia.
- Trial name
- NCT04419363
- Testing
- Burosumab Injection
- Where
- France
- Volunteers
- 57 people
- Sponsor
- Bicetre Hospital
X-linked Hypophosphatemia
Dental Implants in Patients With X-linked Hypophosphatemia
X-linked hypophosphatemia (XLH) is a rare genetic skeletal disease where increased phosphate wasting in the kidney leads to hypophosphatemia and prevents normal mineralization of bone and dentin, with osteomalacia as a principal…
- Trial name
- IMPLANTS-XLH (NCT03879915)
- Testing
- Dental Implant placement
- Where
- France
- Volunteers
- 36 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
X-Linked Hypophosphatemia
Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)
The primary objectives of this study are to: Assess the long-term safety of KRN23 subcutaneous (SC) administration in adult subjects with XLH Assess the proportion of subjects achieving serum phosphorus levels in the normal range…
- Trial name
- NCT02312687
- Testing
- KRN23
- Where
- 5 sites in United States
- Volunteers
- 20 people
- Sponsor
- Kyowa Kirin, Inc.
X-linked Hypophosphatemia
Foot Disorders in X-linked Hypophosphatemia
This study aimed to characterize foot pathologies using X-rays and clinical examination and assess related outcome scores in adolescents and adults with X-linked Hypophophatemia
- Trial name
- NCT06067932
- Testing
- Foot X rays, Clinical examination + scores
- Where
- Austria
- Volunteers
- 28 people
- Sponsor
- Orthopedic Hospital Vienna Speising
X-linked Hypophosphatemia (XLH)
Retrospective and Prospective Disease Progression and Quality of Life in XLH
There is limited empirical data documenting disease progression and impact on quality of life for patients with X-linked hypophosphatemia (XLH).
- Trial name
- NCT04049877
- Testing
- None - Observational study
- Where
- United Kingdom
- Volunteers
- 11 people
- Sponsor
- Medialis Ltd.