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Can a drug for one bone disease help another? a Rare-Disorder trial puts it to the test
NCT ID NCT03993821
First seen Jul 30, 2026 · Last updated Jul 31, 2026 · Updated 1 time
Summary
This early-phase trial is testing whether burosumab, a drug already approved for X-linked hypophosphatemia (XLH), can safely raise phosphate levels in a single patient with cutaneous skeletal hypophosphatemia syndrome (CSHS). Both conditions involve abnormally high FGF23 activity leading to low phosphate. The patient will receive burosumab injections over 52 weeks, with the main goal of measuring changes in blood phosphate levels.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- burosumab (Crysvita), an antibody that blocks FGF23 to raise phosphate levels
- What this could lead to
- If successful, burosumab could offer a treatment option for people with CSHS, a rare condition with no approved therapies.
- What could go wrong
- This is a very early, single-patient trial, so results may not apply to others. Burosumab is not yet approved for CSHS, and side effects are possible.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Early phase 1
The earliest testing in people: a first look at safety, in a very small group.
- Participants
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1 person
The number who actually took part.
- Started
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Jul 2019
- Finished
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Mar 2026
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Patient has confirmed CSHS by physician diagnosis 2. Patient has confirmed FGF23 elevations in the context of a low fasting serum phosphorous \< 2.5 mg/dL 3. Patient able to tolerate burosumab treatment 4. Have a corrected serum calcium level \< 10.8 mg/dL 5. Have an eGFR \>25 mL/min/1.73m2 (using CKD-EPI equation) 6. Must be willing in the opinion of the investigators, to comply with study procedures and schedule 7. Provide written informed consent by the subject or a Legal Authorized Representative (LAR) after the study has been explained and prior to any research related procedures begin 8. Must have a negative pregnancy test at Screening and be willing to have additional pregnancy tests during the study. 9. Must be willing to use a highly effective method of contraception for the duration of the study and for at least 12 weeks after the last dose of the study drug. Highly effective methods of contraception include: combined (estrogen and progestogen containing) hormonal contraception associated with inhibition of ovulation (e.g., oral, intravaginal, transdermal), progestogen-only hormonal contraception associated with inhibition of ovulation (e.g., oral, injectable, implantable), intrauterine device (IUD) or intrauterine hormone-releasing system (IUS), bilateral tubal occlusion, or sexual abstinence (i.e., refraining from heterosexual intercourse during the entire period of risk associated with the study treatments, when this is in line with the preferred and usual lifestyle of the subject) Exclusion Criteria: An individual who meets any of the following criteria will be excluded from participation in this study: 1. Concomitant use of active vitamin D (i.e. calcitriol) and/or exogenous phosphate supplementation during burosumab therapy. Subjects will be allowed over the counter Vitamin D should levels drop below \<20 ng/ml 2. Blood phosphorus level within or above the normal range while not taking phosphate or active Vitamin D. 3. Severe renal impairment or end-stage renal disease, defined as an eGFR of less than 25 ml/min/1.73m2 4. The use or enrollment in studies using other investigational therapies including other monoclonal antibodies 5. Subject or Legally Authorized Representative not willing or not able to give written informed consent 6. In the investigator's opinion, the subject may not be able to meet all the requirements for study participation 7. History of hypersensitivity to burosumab excipients that in the opinion of the investigator, places the subject at an increased risk of adverse effects 8. Subject has a condition that in the opinion of the investigator could present a concern for subject safety or data interpretation.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Children's National Hospital
Washington D.C., District of Columbia, 20010, United States