Clinical trials: Hypophosphatemic Rickets
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
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency
The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of multiple ascending doses of INZ-701, an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) enzyme…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
- Trial name
- NCT04686175
- Testing
- INZ-701
- Where
- 7 sites in United States, Canada and 3 more
- Volunteers
- 13 people
- Sponsor
- Inozyme Pharma
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
Primary Hypophosphatemic Rickets
Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets
The purpose of this study is to investigate the efficacy and safety of oral phosphate (Z-521) in subjects with primary hypophosphatemic rickets.
- Trial name
- NCT01237288
- Testing
- Z-521
- Where
- 4 sites in Japan
- Volunteers
- 16 people
- Sponsor
- Zeria Pharmaceutical
Hypophosphatemia, Hypophosphatemic Rickets
Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets
A 52 week, open label trial to assess the safety and efficacy of KRN23, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome(ENS) and associated hypophosphatemic rickets A 26 weeks…
- Conditions
- Hypophosphatemia, Hypophosphatemic Rickets, Pain, Chronic
- Trial name
- NCT03581591
- Testing
- Burosumab
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Redwood Dermatology Sciences
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
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy
Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency
The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency longitudinally.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Adenosine Triphosphate Binding Cassette Transporter Protein Subfamily C Member 6
- Trial name
- NCT05050669
- Testing
- No Intervention for this observational study
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Inozyme Pharma
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.
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette…
- Trial name
- NCT06302439
- Testing
- No Intervention for this observational study
- Where
- 14 sites in United States, Canada and 7 more
- Volunteers
- 54 people
- Sponsor
- Inozyme Pharma
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.
X-linked Hypophosphatemic Rickets/Osteomalacia
A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
The objective of this study is to assess the safety and tolerability of KRN23 after a single subcutaneous (SC) administration in subjects with X-linked hypophosphatemic rickets/osteomalacia (XLH) in Japan or Korea.
- Trial name
- NCT02181764
- Testing
- KRN23
- Where
- 2 sites in Japan, South Korea
- Volunteers
- 15 people
- Sponsor
- Kyowa Kirin Co., Ltd.
X-linked Hypophosphatemia
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
A first-in-human study of KK8123 in adults with X-linked hypophosphatemia.
- Trial name
- NCT06525636
- Testing
- KK8123
- Where
- 10 sites in United States, Canada and 3 more
- Volunteers
- 39 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association